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PINK1 Gene

protein-coding   GIFtS: 67
GCID: GC01P020959

PTEN Induced Putative Kinase 1

(Previous name: Parkinson disease (autosomal recessive) 6)
(Previous symbol: PARK6)
Alzheimer's & Parkinson's Diseases Congress
  See related diseases
at  

(According to 1HGNC, 2Entrez Gene,
3UniProtKB/Swiss-Prot, 4UniProtKB/TrEMBL, 5OMIM, 6GeneLoc, 7Ensembl, 8DME, 9miRBase, 10fRNAdb, 12H-InvDB, 13NCBI, 14NONCODE, and/or 15RNAdb)
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Aliases
PTEN Induced Putative Kinase 11 2     Parkinson Disease (Autosomal Recessive) 61
PARK61 2 5     Protein Kinase BRPK2
BRPK2 3     Serine/Threonine-Protein Kinase PINK1, Mitochondrial2
PTEN-Induced Putative Kinase Protein 12 3     EC 2.7.11.13

External Ids:    HGNC: 145811   Entrez Gene: 650182   Ensembl: ENSG000001588287   OMIM: 6083095   UniProtKB: Q9BXM73   

Export aliases for PINK1 gene to outside databases

Previous GC identifers: GC01P020530 GC01P019995 GC01P020105 GC01P020429 GC01P020705 GC01P020832 GC01P019206


(According to Entrez Gene, GeneCards, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
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Entrez Gene summary for PINK1 Gene:
This gene encodes a serine/threonine protein kinase that localizes to mitochondria. It is thought to protect cells
from stress-induced mitochondrial dysfunction. Mutations in this gene cause one form of autosomal recessive
early-onset Parkinson disease. (provided by RefSeq, Jul 2008)

GeneCards Summary for PINK1 Gene:
PINK1 (PTEN induced putative kinase 1) is a protein-coding gene. Diseases associated with PINK1 include parkinson disease 6, early onset, and pink1 type of young-onset parkinson disease. GO annotations related to this gene include protein serine/threonine kinase activity and ubiquitin protein ligase binding.

UniProtKB/Swiss-Prot: PINK1_HUMAN, Q9BXM7
Function: Protects against mitochondrial dysfunction during cellular stress, potentially by phosphorylating
mitochondrial proteins. Involved in the clearance of damaged mitochondria via selective autophagy (mitophagy).
Targets PARK2 to dysfunctional depolarized mitochondria through the phosphorylation of MFN2

Gene Wiki entry for PINK1 Gene


(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 75), Regulatory elements and Epigenetics data according to QIAGEN, and/or SwitchGear Genomics)
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RefSeq DNA sequence:
NC_000001.11  NC_018912.2  NT_032977.10  
Regulatory elements:
   Regulatory transcription factor binding sites in the PINK1 gene promoter:
         NF-1/L   NF-1   LHX3b/Lhx3b   AP-1   SREBP-1c   ATF-2   SREBP-1b   SREBP-1a   LHX3a/Lhx3a   c-Jun   
         Other transcription factors

Browse SwitchGear Promoter luciferase reporter plasmids
   Search Chromatin IP Primers for PINK1

Epigenetics:
DNA Methylation CpG Assay Predesigned for Pyrosequencing in human, mouse, rat PINK1


Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 1p36   Ensembl cytogenetic band:  1p36.12   HGNC cytogenetic band: 1p36.12

PINK1 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
PINK1 gene location

GeneLoc information about chromosome 1         GeneLoc Exon Structure

GeneLoc location for GC01P020959:  view genomic region     (about GC identifiers)

Start:
20,959,948 bp from pter      End:
20,978,004 bp from pter
Size:
18,057 bases      Orientation:
plus strand

(According to 1UniProtKB, HORDE, 2neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Antibodies by EMD Millipore, R&D Systems, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
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UniProtKB/Swiss-Prot: PINK1_HUMAN, Q9BXM7 (See protein sequence)
Recommended Name: Serine/threonine-protein kinase PINK1, mitochondrial precursor  
Size: 581 amino acids; 62769 Da
Cofactor: Magnesium
Subunit: Interacts with PARK2. Interacts with FBXO7
Secondary accessions: Q8N6T9 Q8NBU3 Q96DE4
Alternative splicing: 2 isoforms:  Q9BXM7-1   Q9BXM7-2   (No experimental confirmation available)

Explore the universe of human proteins at neXtProt for PINK1: NX_Q9BXM7

Explore proteomics data for PINK1 at MOPED

Post-translational modifications: 

  • Autophosphorylation at Ser-228 and Ser-402 is essential for Parkin/PARK2 recruitment to depolarized mitochondria1
  • Modification sites at neXtProt
  • Modification sites at PhosphoSitePlus

  • See PINK1 Protein Expression from SPIRE MOPED, PaxDB, and MaxQB

    REFSEQ proteins: NP_115785.1  
    ENSEMBL proteins: 
     ENSP00000364204  

    PINK1 Human Recombinant Protein Products:

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    OriGene Protein Over-expression Lysate for PINK1
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    Novus Biologicals PINK1 Lysates
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    Cloud-Clone Corp. ELISAs for PINK1
    Cloud-Clone Corp. CLIAs for PINK1


    (According to HGNC, IUPHAR, InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
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    HGNC Gene Families:
    PARK: Parkinson disease

    IUPHAR Guide to PHARMACOLOGY protein family classification: PTEN induced putative kinase 1
    NKF2 family

    3 InterPro protein domains:
     IPR011009 Kinase-like_dom
     IPR008271 Ser/Thr_kinase_AS
     IPR000719 Prot_kinase_dom

    Graphical View of Domain Structure for InterPro Entry Q9BXM7

    ProtoNet protein and cluster: Q9BXM7

    UniProtKB/Swiss-Prot: PINK1_HUMAN, Q9BXM7
    Similarity: Belongs to the protein kinase superfamily. Ser/Thr protein kinase family
    Similarity: Contains 1 protein kinase domain


    PINK1 for domains           About GeneDecksing


    (According to 1UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or 2DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory, genOway,
    transcription factor targeting from QIAGEN and/or HOMER, miRNA Gene Targets from miRTarBase, shRNA from OriGene, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, SwitchGear Genomics, Gene Editing from DNA2.0, Clones from OriGene, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, ESI BIO, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Molecular Function:

         UniProtKB/Swiss-Prot Summary: PINK1_HUMAN, Q9BXM7
    Function: Protects against mitochondrial dysfunction during cellular stress, potentially by phosphorylating
    mitochondrial proteins. Involved in the clearance of damaged mitochondria via selective autophagy (mitophagy).
    Targets PARK2 to dysfunctional depolarized mitochondria through the phosphorylation of MFN2
    Catalytic activity: ATP + a protein = ADP + a phosphoprotein

         Enzyme Number (IUBMB): EC 2.7.11.11

         Gene Ontology (GO): Selected molecular function terms (see all 11):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000287magnesium ion binding IDA14607334
    GO:0004672protein kinase activity ----
    GO:0004674protein serine/threonine kinase activity IDA14607334
    GO:0004713protein tyrosine kinase activity ----
    GO:0005515protein binding IPI--
         
    PINK1 for ontologies           About GeneDecksing


    Phenotypes:
         6 GenomeRNAi human phenotypes for PINK1:
     Decreased viability  Increased 8N DNA content  Increased cell size  Increased cell spreading 
     Synthetic lethal with Ras  Wnt reporter downregulated 

         9 MGI mutant phenotypes (inferred from 9 alleles(MGI details for Pink1):
     behavior/neurological  cellular  endocrine/exocrine gland  growth/size/body  homeostasis/metabolism 
     immune system  nervous system  no phenotypic analysis  taste/olfaction 

    PINK1 for phenotypes           About GeneDecksing

    Animal Models:
         MGI mouse knock-outs for PINK1: Pink1tm1Zhzh Pink1tm1Vbae Pink1tm1Hlw Pink1tm1Shn Pink1tm1.1Wrst Pink1tm1Hbu
                                                         Pink1tm1Ncw

       inGenious Targeting Laboratory: Let us create your new Knockout/Knockin mouse model for PINK1
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       genOway customized KO model: permanent, tissue-specific or time-controlled inactivation for PINK1
       genOway customized Knockin model: humanization, point mutation, expression monitoring, etc. for PINK1

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    hsa-miR-222* hsa-miR-532-3p
    SwitchGear 3'UTR luciferase reporter plasmidPINK1 3' UTR sequence
    Inhib. RNA
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    (According to UniProtKB, COMPARTMENTS Subcellular localization database, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene.)
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    Subcellular locations from UniProtKB/Swiss-Prot
    PINK1_HUMAN, Q9BXM7: Mitochondrion outer membrane; Single-pass membrane protein. Cytoplasm, cytosol
    Subcellular locations from COMPARTMENTS: 

    CompartmentConfidence
    cytosol5
    mitochondrion5

    Gene Ontology (GO): 5 cellular component terms:    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0005739mitochondrion IDA15087508
    GO:0005741mitochondrial outer membrane IEA--
    GO:0005743mitochondrial inner membrane IEA--
    GO:0005829cytosol IDA19880420
    GO:0016021integral component of membrane IEA--

    PINK1 for ontologies           About GeneDecksing


    (SuperPaths according to PathCards, Pathways according to R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to QIAGEN, and/or STRING, Interactions according to 1UniProtKB, 2MINT, 3I2D, and/or 4STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Apr 2014 via Entrez Gene).
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    SuperPaths for PINK1 About                                                                                                See pathways by source

    SuperPathContained pathways About
    1Respiratory electron transport, ATP synthesis by chemiosmotic coupling, and heat production by uncoupling proteins.
    Parkinson's disease0.57
    2CDK-mediated phosphorylation and removal of Cdc6
    Parkinson's Disease Pathway0.31
    3Parkinsons Disease Pathway
    Parkinsons Disease Pathway
    4Neuroscience
    Neuroscience

    Pathways by source                                                                                                                                                                 See SuperPaths
    Show all pathways

    1 Downloadable PowerPoint Slide of GeneGlobe Pathway Central Maps for PINK1
        Parkinson's Disease Pathway

    1 Cell Signaling Technology (CST) Pathway for PINK1
        Neuroscience

    1 BioSystems Pathway for PINK1
        Parkinsons Disease Pathway



    1 Kegg Pathway  (Kegg details for PINK1):
        Parkinson's disease


    PINK1 for pathways           About GeneDecksing

        Pathway & Disease-focused RT2 Profiler PCR Arrays including PINK1: 
              Parkinson's Disease in human mouse rat
              Autophagy in human mouse rat

    Interactions:

        GeneGlobe Interaction Network for PINK1

    STRING Interaction Network Preview (showing 5 interactants - click image to see 22)

    Selected Interacting proteins for PINK1 (Q9BXM71, 2, 3 ENSP000003642044) via UniProtKB, MINT, STRING, and/or I2D (see all 25)
    InteractantInteraction Details
    GeneCardExternal ID(s)
    TOMM20Q153882, 3, ENSP000003555664MINT-7557121 MINT-7557138 I2D: score=1 STRING: ENSP00000355566
    PARK2O602602, 3, ENSP000003558654MINT-7557138 I2D: score=2 STRING: ENSP00000355865
    MAP1LC3BQ9GZQ81, 2, 3, ENSP000002686074EBI-2846068,EBI-373144 MINT-7557195 MINT-7557109 MINT-7557173 I2D: score=1 STRING: ENSP00000268607
    PTENP604843, ENSP000003610214I2D: score=1 STRING: ENSP00000361021
    RHOT1Q8IXI21, ENSP000003511324EBI-2846068,EBI-1396430 STRING: ENSP00000351132
    About this table

    Gene Ontology (GO): Selected biological process terms (see all 17):    About this table

    GO IDQualified GO termEvidencePubMed IDs
    GO:0000422mitochondrion degradation IMP--
    GO:0006468protein phosphorylation IDA14607334
    GO:0006950response to stress IDA15087508
    GO:0008219cell death IEA--
    GO:0016567protein ubiquitination IMP--

    PINK1 for ontologies           About GeneDecksing



    (Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience, ApexBio, HMDB, BitterDB, and/or Novoseek, Ligands according to IUPHAR, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB)
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    Browse Small Molecules at EMD Millipore
       Browse drugs & compounds from Enzo Life Sciences
      Browse compounds at ApexBio 

    Browse Tocris compounds for PINK1

    3 HMDB Compounds for PINK1    About this table
    CompoundSynonyms CAS #PubMed Ids
    ADPadenosindiphosphorsaeure (see all 8)58-64-0--
    Adenosine triphosphate5'-(tetrahydrogen triphosphate) Adenosine (see all 24)56-65-5--
    MagnesiumMagnesium (see all 2)7439-95-4--

    6 Novoseek inferred chemical compound relationships for PINK1 gene    About this table
    Compound   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    levodopa 53.4 2 18307263 (1), 16179113 (1)
    threonine 49.5 18 19087301 (2), 16672981 (1), 19270741 (1), 17000703 (1) (see all 12)
    dopamine 41.2 7 19895857 (1), 17563363 (1), 19694908 (1), 17713119 (1) (see all 8)
    serine 35.8 17 19087301 (2), 16672981 (1), 19270741 (1), 17000703 (1) (see all 11)
    atp 17.2 6 19546216 (1), 16966503 (1), 19242547 (1)
    methionine 0 1 16179113 (1)



    PINK1 for compounds           About GeneDecksing



    (Secondary structures according to fRNAdb,
    GenBank/EMBL/DDBJ Accessions according to
    Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
    RefSeq according to Entrez Gene,
    DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
    Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
    siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN, SwitchGear Genomics,
    Tagged/untagged cDNA clones from OriGene, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, and/or QIAGEN )
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    REFSEQ mRNAs for PINK1 gene: 
    NM_032409.2  

    Unigene Cluster for PINK1:

    PTEN induced putative kinase 1
    Hs.389171  [show with all ESTs]
    Unigene Representative Sequence: AB053323
    3 Ensembl transcripts including schematic representations, and UCSC links where relevant:
    ENST00000321556(uc001bdm.3) ENST00000492302 ENST00000400490(uc001bdn.3)


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    2 qRT-PCR Assays for microRNAs that regulate PINK1:
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    SwitchGear 3'UTR luciferase reporter plasmidPINK1 3' UTR sequence
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      QuantiFast Probe-based Assays in human, mouse, rat PINK1

    Additional mRNA sequence: 

    AB053323.1 AF316873.1 BC009534.1 BC028215.1 

    16 DOTS entries:

    DT.95148807  DT.99990789  DT.445984  DT.100824921  DT.100801355  DT.100824919  DT.95226113  DT.100824908 
    DT.80100175  DT.86836539  DT.100824911  DT.100824917  DT.40191712  DT.95148814  DT.95148815  DT.86853366 

    Selected AceView cDNA sequences (see all 368):

    BU751789 AA879128 AI424391 BG055986 CD558848 BM352779 CB153545 BF448942 
    BU625739 AJ709870 CR601045 CB215266 CD679228 BF196557 N75032 CB118069 
    CB122562 BQ672284 AI536608 CF131513 BE531293 AA304888 AA551902 AL042585 

    GeneLoc Exon Structure

    3 Alternative Splicing Database (ASD) splice patterns (SP) for PINK1    About this scheme

    ExUns: 1 ^ 2 ^ 3a · 3b ^ 4 ^ 5a · 5b ^ 6 ^ 7 ^ 8a · 8b
    SP1:              -                 -                                 
    SP2:                                -                                 
    SP3:                                                                  


    ECgene alternative splicing isoforms for PINK1

    (RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, Protein expression images according to data from SPIRE 1MOPED, 2PaxDb, and 3MaxQB, plus additional links to SOURCE, and/or BioGPS, and/or UniProtKB,
    PCR Arrays from QIAGEN, Primers from OriGene, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
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    PINK1 expression in normal human tissues (normalized intensities)      PINK1 embryonic expression: see
    See probesets specificity/sensitivity at GeneAnnot
    About this imageBioGPS <intensity>2/3
    CGAP TAG: AGGCCTGGGC
    PINK1 Expression
    About this image


    PINK1 expression in embryonic tissues and stem cells    About this table
    Data from LifeMap, the Embryonic Development and Stem Cells Database
     selected tissues (see all 9) fully expand
     
     Brain (Nervous System)    fully expand to see all 2 entries
             Cerebral Cortex
     
     Neural Tube (Nervous System)
             Metencephalon
     
     Blood (Hematopoietic System)
             Granulocytes Peripheral Blood
     
     Kidney (Urinary System)
     
     Thyroid (Endocrine System)
    PINK1 Protein expression data from MOPED1, PaxDb2 and MaxQB3    About this image

    PINK1 Protein Expression

    SOURCE GeneReport for Unigene cluster: Hs.389171

    UniProtKB/Swiss-Prot: PINK1_HUMAN, Q9BXM7
    Tissue specificity: Highly expressed in heart, skeletal muscle and testis, and at lower levels in brain, placenta,
    liver, kidney, pancreas, prostate, ovary and small intestine. Present in the embryonic testis from an early stage
    of development

        Pathway & Disease-focused RT2 Profiler PCR Arrays including PINK1: 
              Parkinson's Disease in human mouse rat
              Autophagy in human mouse rat

    Primer
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    OriGene qPCR primer pairs and template standards for PINK1
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    In Situ
    Assay Products:
     

     
    Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PINK1

    (Orthologs according to 1,2HomoloGene (2older version, for species not in 1newer version), 3euGenes, 4SGD , 5MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or 6Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
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    This gene was present in the common ancestor of animals.

    Orthologs for PINK1 gene from Selected species (see all 13)    About this table
    Organism Taxonomic
    classification
    Gene Description Human
    Similarity
    Orthology
    Type
    Details
    mouse
    (Mus musculus)
    Mammalia Pink11 , 5 PTEN induced putative kinase 11, 5 81.98(n)1
    81.69(a)1
      4 (70.14 cM)5
    689431  NM_026880.21  NP_081156.21 
     1383134095 
    chicken
    (Gallus gallus)
    Aves PINK11 PTEN induced putative kinase 1 66.08(n)
    64.05(a)
      425370  XM_423139.4  XP_423139.3 
    zebrafish
    (Danio rerio)
    Actinopterygii pink11 PTEN induced putative kinase 1 58.32(n)
    57.48(a)
      494085  NM_001008628.1  NP_001008628.1 
    fruit fly
    (Drosophila melanogaster)
    Insecta CG45233 protein kinase 43(a)   6C6   --
    worm
    (Caenorhabditis elegans)
    Secernentea EEED8.93
    pink-11
    pink-11 31(a)3
    43.7(n)1
    35.5(a)1
      II(5393440-5395652)3
    1739181  NM_062616.41  NP_495017.11 


    ENSEMBL Gene Tree for PINK1 (if available)
    TreeFam Gene Tree for PINK1 (if available)

    (Paralogs according to 1HomoloGene,
    2Ensembl, and 3SIMAP, Pseudogenes according to 4Pseudogene.org Build 68)
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      --

    (SNPs/Variants according to the 1NCBI SNP Database, 2Ensembl, 3PupaSUITE, 4UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD), the Human Cytochrome P450 Allele Nomenclature Database, and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers, Cancer Mutation PCR Arrays and Assays, and Copy Number PCR Arrays from QIAGEN)
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    Selected SNPs for PINK1 (see all 714)    About this table    
    Genomic DataTranscription Related DataAllele Frequencies
    SNP IDValidClinical
    significance
    Chr 1 posSequence#AA
    Chg
    TypeMore#Allele
    freq
    PopTotal
    sample
    More
    ----------
    VAR_0189944
    Parkinson disease 6 (PARK6)4--see VAR_0189942 G D mis40--------
    VAR_0465754
    Parkinson disease 6 (PARK6)4--see VAR_0465752 A P mis40--------
    VAR_0465774
    Parkinson disease 6 (PARK6)4--see VAR_0465772 P L mis40--------
    VAR_0465784
    Parkinson disease 6 (PARK6)4--see VAR_0465782 A D mis40--------
    VAR_0465964
    Parkinson disease 6 (PARK6)4--see VAR_0465962 C R mis40--------
    VAR_0465814
    Parkinson disease 6 (PARK6)4--see VAR_0465812 E K mis40--------
    VAR_0465994
    Parkinson disease 6 (PARK6)4--see VAR_0465992 E G mis40--------
    VAR_0465894
    Parkinson disease 6 (PARK6)4--see VAR_0465892 T M mis40--------
    VAR_0465844
    Parkinson disease 6 (PARK6)4--see VAR_0465842 L V mis40--------
    VAR_0627754
    Parkinson disease 6 (PARK6)4--see VAR_0627752 L P mis40--------

    HapMap Linkage Disequilibrium report for PINK1 (20959948 - 20978004 bp)

    Structural Variations
         Database of Genomic Variants (DGV) 2 variations for PINK1:    About this table    
    Variant IDTypeSubtypePubMed ID
    nsv834369CNV Loss17160897
    nsv870827CNV Gain21882294

    Human Gene Mutation Database (HGMD): PINK1
    Locus Specific Mutation Databases (LSDB): PINK1

    Site Specific Mutation Identification with PCR Assays
    SeqTarget long-range PCR primers for resequencing PINK1
    DNA2.0 Custom Variant and Variant Library Synthesis for PINK1

    (in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Conferences by KenesGroup, Novoseek, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
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    OMIM gene information: 608309   
    OMIM disorders: 605909  
    UniProtKB/Swiss-Prot: PINK1_HUMAN, Q9BXM7
  • Parkinson disease 6 (PARK6) [MIM:605909]: A neurodegenerative disorder characterized by parkinsonian
    signs such as rigidity, resting tremor and bradykinesia. A subset of patients manifest additional symptoms
    including hyperreflexia, autonomic instability, dementia and psychiatric disturbances. Symptoms show diurnal
    fluctuation and can improve after sleep. Note=The disease is caused by mutations affecting the gene represented
    in this entry

  • 16 diseases for PINK1:    About MalaCards
    parkinson disease 6, early onset    pink1 type of young-onset parkinson disease    parkinson disease 10    parkinson disease 1
    parkinson's disease    tremor    multiple system atrophy    alzheimer's disease
    dementia    multiple sclerosis    schizophrenia    neuronitis
    breast cancer    multiple myeloma    myeloma    prostatitis

    1 disease from the University of Copenhagen DISEASES database for PINK1:
    Parkinson's disease

    PINK1 for disorders           About GeneDecksing


    Congresses - knowledge worth sharing:
    Alzheimer's & Parkinson's Diseases Congress (ADPD) 18 - 22 March 2015

    9 Novoseek inferred disease relationships for PINK1 gene    About this table

    Disease   -log (P-Val)   Hits   PubMed IDs for Articles with Shared Sentences (# sentences)
    autosomal recessive parkinsonism 94.7 15 11462174 (1), 15955954 (1), 17989306 (1), 17914725 (1) (see all 12)
    parkinson disease 89.5 151 15596610 (5), 17499497 (4), 16702191 (3), 15349859 (3) (see all 84)
    parkinsonism 86.3 95 19087301 (4), 17713119 (4), 18546294 (3), 15349860 (3) (see all 51)
    neurodegenerative diseases 73.3 1 16702191 (1)
    movement disorders 71.9 2 16769864 (1), 18704525 (1)
    neurodegeneration 63.6 14 17579517 (1), 19631006 (1), 19780893 (1), 20012177 (1) (see all 8)
    muscle degeneration 51.2 4 16672981 (1), 16701203 (1), 18230723 (1)
    sterility male 41.7 6 16672981 (2), 16701203 (1), 20457924 (1)
    alzheimers disease 4.84 1 16702191 (1)

    GeneTests: PINK1
    GeneReviews: PINK1
    Genetic Association Database (GAD): PINK1
    Human Genome Epidemiology (HuGE) Navigator: PINK1 (54 documents)

    Export disorders for PINK1 gene to outside databases

    (in PubMed. Associations of this gene to articles via 1Entrez Gene, 2UniProtKB/Swiss-Prot, 3HGNC, 4GAD, 5PharmGKB, 6HMDB, 7DrugBank, 8UniProtKB/TrEMBL, 9 Novoseek, and/or 10fRNAdb)
    About This Section

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    PubMed articles for PINK1 gene, integrated from 10 sources (see all 341) (see top 10):
    (articles sorted by number of sources associating them with PINK1)
        Utopia: connect your pdf to the dynamic
    world of online information

    1. PINK1 mutations are associated with sporadic early-onset parkinsonism. (PubMed id 15349860)1, 2, 3, 4, 9 Valente E.M.... Bentivoglio A.R. (Ann. Neurol. 2004)
    2. PINK1, Parkin, and DJ-1 mutations in Italian patients with early- onset parkinsonism. (PubMed id 15970950)1, 2, 4, 9 Klein C.... Pramstaller P.P. (Eur. J. Hum. Genet. 2005)
    3. PINK1 (PARK6) associated Parkinson disease in Ireland. (PubMed id 15505171)1, 2, 4, 9 Healy D.G.... Lynch T. (Neurology 2004)
    4. Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease. (PubMed id 15596610)1, 2, 4, 9 Rogaeva E.... Singleton A.B. (Arch. Neurol. 2004)
    5. PINK1 heterozygous rare variants: prevalence, significance and phenotypic spectrum. (PubMed id 18330912)1, 2, 4 Marongiu R.... Valente E.M. (Hum. Mutat. 2008)
    6. PINK1 mutations in sporadic early-onset Parkinson's disease. (PubMed id 16482571)1, 2, 4 Tan E.-K.... Tan L. (Mov. Disord. 2006)
    7. Analysis of the PINK1 gene in a cohort of patients with sporadic early-onset parkinsonism in Taiwan. (PubMed id 16257123)1, 2, 4 Fung H.-C....Wu Y.-R. (Neurosci. Lett. 2006)
    8. A heterozygous effect for PINK1 mutations in Parkinson's disease? (PubMed id 16969854)1, 2, 4 Abou-Sleiman P.M.... Wood N.W. (Ann. Neurol. 2006)
    9. Early-onset parkinsonism associated with PINK1 mutations: frequency, genotypes, and phenotypes. (PubMed id 16009891)1, 2, 4 Bonifati V.... Oostra B.A. (Neurology 2005)
    10. Growth-suppressive effects of BPOZ and EGR2, two genes involved in the PTEN signaling pathway. (PubMed id 11494141)1, 2, 3 Unoki M. and Nakamura Y. (Oncogene 2001)
    11. [Establishment and application of an analytical method for PINK1 gene exon copy number]. (PubMed id 20376796)1, 4, 9 Zhang H.N....Tang B.S. (Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2010)
    12. Association of PINK1 and DJ-1 confers digenic inheritance of early- onset Parkinson's disease. (PubMed id 16632486)1, 2, 9 Tang B.... Zhang Z. (Hum. Mol. Genet. 2006)
    13. Exclusion of PINK1 as candidate gene for the late-onset form of Parkinson's disease in two European populations. (PubMed id 16354302)1, 4, 9 Schlitter A.M....Dekomien G. (J Negat Results Biomed 2005)
    14. A comparative study of LRRK2, PINK1 and genetically undefined familial Parkinson's disease. (PubMed id 19726410)1, 4, 9 Nishioka K....Hentati F. (J. Neurol. Neurosurg. Psychiatr. 2010)
    15. PINK1 stabilized by mitochondrial depolarization recruits Parkin to damaged mitochondria and activates latent Parkin for mitophagy. (PubMed id 20404107)1, 2, 9 Matsuda N.... Tanaka K. (J. Cell Biol. 2010)
    16. PINK1 mutations in a Brazilian cohort of early-onset Parkinson's disease patients. (PubMed id 19562775)1, 4, 9 Godeiro-Junior C....Ferraz H.B. (Mov. Disord. 2009)
    17. Subclinical sensory abnormalities in unaffected PINK1 heterozygotes. (PubMed id 18584234)1, 4, 9 Fiorio M....Tinazzi M. (J. Neurol. 2008)
    18. Juvenile-onset Parkinsonism as a result of the first mutation in the adenosine triphosphate orientation domain of PINK1. (PubMed id 16966503)1, 2, 9 Leutenegger A.-L.... Brice A. (Arch. Neurol. 2006)
    19. The gene responsible for PARK6 Parkinson's disease, PINK1, does not influence common forms of parkinsonism. (PubMed id 15349859)1, 4, 9 Healy D.G....Wood N.W. (Ann. Neurol. 2004)
    20. Mutation analysis of parkin and PINK1 genes in early-onset Parkinson's disease in China. (PubMed id 20399249)1, 4, 9 Zhang B.R....Luo W. (Neurosci. Lett. 2010)
    21. Genotypic and phenotypic characteristics of Dutch patients with early onset Parkinson's disease. (PubMed id 18973254)1, 4, 9 Macedo M.G....Heutink P. (Mov. Disord. 2009)
    22. PINK1 mutation heterozygosity and the risk of Parkinson's disease. (PubMed id 17172567)1, 4, 9 Toft M....Farrer M.J. (J. Neurol. Neurosurg. Psychiatr. 2007)
    23. Heterozygous carriers of a Parkin or PINK1 mutation share a common functional endophenotype. (PubMed id 19038850)1, 4, 9 van Nuenen B.F....Siebner H.R. (Neurology 2009)
    24. Bilateral subthalamic stimulation in Parkin and PINK1 parkinsonism. (PubMed id 18378882)1, 4, 9 Moro E....Klein C. (Neurology 2008)
    25. Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism. (PubMed id 16207731)1, 2, 9 Silvestri L.... Casari G. (Hum. Mol. Genet. 2005)
    26. Responsiveness to distracting stimuli, though increased in Parkinson's disease, is decreased in asymptomatic PINK1 and Parkin mutation carriers. (PubMed id 19822161)1, 4, 9 Verleger R....Klein C. (Neuropsychologia 2010)
    27. Genotype-phenotype correlates in Taiwanese patients with early-onset recessive Parkinsonism. (PubMed id 19006224)1, 4, 9 Lee M.J....Wu R.M. (Mov. Disord. 2009)
    28. Analysis of PARK genes in a Korean cohort of early-onset Parkinson disease. (PubMed id 18704525)1, 4, 9 Choi J.M....Kim Y.J. (Neurogenetics 2008)
    29. A common A340T variant in PINK1 gene associated with late-onset Parkinson's disease in Chinese. (PubMed id 17084972)1, 4, 9 Wang F....Chan P. (Neurosci. Lett. 2006)
    30. Genetic association study of PINK1 coding polymorphisms in Parkinson's disease. (PubMed id 15542245)1, 4, 9 Groen J.L....Rogaeva E. (Neurosci. Lett. 2004)
    31. G309D and W437OPA PINK1 mutations in Caucasian Parkinson's disease patients. (PubMed id 15876334)1, 4, 9 Deng H....Jankovic J. (Acta Neurol. Scand. 2005)
    32. The Parkinson's disease-linked proteins Fbxo7 and Parkin interact to mediate mitophagy. (PubMed id 23933751)1, 2 Burchell V.S....Plun-Favreau H. (Nat. Neurosci. 2013)
    33. PINK1 autophosphorylation upon membrane potential dissipation is essential for Parkin recruitment to damaged mitochondria. (PubMed id 22910362)1, 2 Okatsu K.... Matsuda N. (Nat. Commun. 2012)
    34. Systematic review and UK-based study of PARK2 (parkin), PINK1, PARK7 (DJ-1) and LRRK2 in early-onset Parkinson's disease. (PubMed id 22956510)1, 2 Kilarski L.L....Morris H.R. (Mov. Disord. 2012)
    35. Mutational analysis of parkin and PINK1 in multiple system atrophy. (PubMed id 20034704)1, 4 Brooks J.A....Scholz S.W. (Neurobiol. Aging 2011)
    36. Assessing the prevalence of PINK1 genetic variants in South African patients diagnosed with early- and late-onset Parkinson's disease. (PubMed id 20558144)1, 4 Keyser R.J....Bardien S. (Biochem. Biophys. Res. Commun. 2010)
    37. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)1, 4 Rose J.E....Uhl G.R. (Mol. Med. 2010)
    38. Evaluation of PINK1 variants in Indian Parkinson's disease patients. (PubMed id 19889566)1, 4 Biswas A....Ray J. (amp 2010)
    39. PINK1 polymorphism IVS1-7 A--&gt;G, exposure to environmental risk factors and anticipation of disease onset in Brazilian patients with early-onset Parkinson's Disease. (PubMed id 19944740)1, 4 Godeiro C....Ferraz H.B. (Neurosci. Lett. 2010)
    40. Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression. (PubMed id 20877624)1, 4 Hendrickson S.L....O'Brien S.J. (PLoS ONE 2010)
    41. Clinical and demographic characteristics of PINK1 mutation carriers--a meta-analysis. (PubMed id 20461815)1, 4 Kasten M....Klein C. (Mov. Disord. 2010)
    42. Structural imaging in the presymptomatic stage of genetically determined parkinsonism. (PubMed id 20483373)1, 4 Reetz K....Binkofski F. (Neurobiol. Dis. 2010)
    43. Mutation analysis of Parkin, PINK1 and DJ-1 genes in Chinese patients with sporadic early onset parkinsonism. (PubMed id 20146068)1, 4 Guo J.F....Tang B.S. (J. Neurol. 2010)
    44. The PINK1/Parkin-mediated mitophagy is compromised by PD-associated mutations. (PubMed id 20798600)1, 2 Geisler S.... Springer W. (Autophagy 2010)
    45. Familial Parkinsonism and early onset Parkinson's disease in a Brazilian movement disorders clinic: phenotypic characterization and frequency of SNCA, PRKN, PINK1, and LRRK2 mutations. (PubMed id 19205068)1, 4 Camargos S.T....Cardoso F. (Mov. Disord. 2009)
    46. Relative contribution of simple mutations vs. copy number variations in five Parkinson disease genes in the Belgian population. (PubMed id 19405094)1, 4 Nuytemans K....Theuns J. (Hum. Mutat. 2009)
    47. Do polymorphisms in the familial Parkinsonism genes contribute to risk for sporadic Parkinson's disease? (PubMed id 19224617)1, 4 Sutherland G.T....Mellick G.D. (Mov. Disord. 2009)
    48. Screening PARK genes for mutations in early-onset Parkinson's disease patients from Queensland, Australia. (PubMed id 18486522)1, 4 Mellick G.D....Hattori N. (amp 2009)
    49. PINK1 mutations and parkinsonism. (PubMed id 18685134)1, 4 Ishihara-Paul L....Farrer M.J. (Neurology 2008)
    50. Analysis of Parkinson disease patients from Portugal for mutations in SNCA, PRKN, PINK1 and LRRK2. (PubMed id 18211709)1, 4 Bras J....Singleton A. (BMC Neurol 2008)
    51. Genomic variants at the PINK1 locus are associated with transcript abundance and plasma nonesterified fatty acid concentrations in European whites. (PubMed id 18495756)1, 4 Franks P.W....Timmons J.A. (FASEB J. 2008)
    52. Clinical and molecular characterisation of a Parkinson family with a novel PINK1 mutation. (PubMed id 18286320)1, 2 Prestel J.... Gasser T. (J. Neurol. 2008)
    53. [PINK1 IVS5-5 G&gt;A polymorphism may contribute to the risk of late onset Parkinson disease in Chinese]. (PubMed id 17557243)1, 4 Wang F....Li Y.J. (Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2007)
    54. PINK1 mutation in Taiwanese early-onset parkinsonism : clinical, genetic, and dopamine transporter studies. (PubMed id 17960343)1, 4 Weng Y.H....Lu C.S. (J. Neurol. 2007)
    55. Assessment of PINK1 (PARK6) polymorphisms in Finnish PD. (PubMed id 16046032)1, 4 ClarimA^n J....Singleton A.B. (Neurobiol. Aging 2006)
    56. The DNA sequence and biological annotation of human chromosome 1. (PubMed id 16710414)1, 2 Gregory S.G.... Bentley D.R. (Nature 2006)
    57. Clinicogenetic study of PINK1 mutations in autosomal recessive early- onset parkinsonism. (PubMed id 15955953)1, 2 Li Y.... Hattori N. (Neurology 2005)
    58. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)1, 2 Ota T.... Sugano S. (Nat. Genet. 2004)
    59. Novel PINK1 mutations in early-onset parkinsonism. (PubMed id 15349870)1, 2 Hatano Y.... Hattori N. (Ann. Neurol. 2004)
    60. Hereditary early-onset Parkinson's disease caused by mutations in PINK1. (PubMed id 15087508)1, 2 Valente E.M.... Wood N.W. (Science 2004)
    61. The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)1, 2 Gerhard D.S.... Malek J. (Genome Res. 2004)
    62. BRPK, a novel protein kinase showing increased expression in mouse cancer cell lines with higher metastatic potential. (PubMed id 14607334)1, 2 Nakajima A.... Huh N.-H. (Cancer Lett. 2003)
    63. Pink1 forms a multiprotein complex with Miro and Milton, linking Pink1 function to mitochondrial trafficking. (PubMed id 19152501)1, 9 Weihofen A....Selkoe D.J. (Biochemistry 2009)
    64. Drosophila pink1 is required for mitochondrial function and interacts genetically with parkin. (PubMed id 16672981)1, 9 Clark I.E....Guo M. (Nature 2006)
    65. Characterization of PINK1 processing, stability, and subcellular localization. (PubMed id 18397367)1, 9 Lin W. and Kang U.J. (J. Neurochem. 2008)
    66. Pink1 Parkinson mutations, the Cdc37/Hsp90 chaperones and Parkin all influence the maturation or subcellular distribution of Pink1. (PubMed id 18003639)1, 9 Weihofen A....Selkoe D.J. (Hum. Mol. Genet. 2008)
    67. FOXO3a-dependent regulation of Pink1 (Park6) mediates survival signaling in response to cytokine deprivation. (PubMed id 19276113)1, 9 Mei Y....You H. (Proc. Natl. Acad. Sci. U.S.A. 2009)
    68. Wild-type PINK1 prevents basal and induced neuronal apoptosis, a protective effect abrogated by Parkinson disease-related mutations. (PubMed id 16079129)1, 9 Petit A....Tandon A. (J. Biol. Chem. 2005)
    69. Mitochondrial alterations in PINK1 deficient cells are influenced by calcineurin-dependent dephosphorylation of dynamin-related protein 1. (PubMed id 19492085)1, 9 Sandebring A....Cookson M.R. (PLoS ONE 2009)
    70. C-terminal truncation and Parkinson's disease-associated mutations down-regulate the protein serine/threonine kinase activity of PTEN-induced kinase-1. (PubMed id 17000703)1, 9 Sim C.H....Cheng H.C. (Hum. Mol. Genet. 2006)
    71. Parkin stabilizes PINK1 through direct interaction. (PubMed id 19358826)1, 9 Shiba K....Hattori N. (Biochem. Biophys. Res. Commun. 2009)
    72. Cytoplasmic localization and proteasomal degradation of N-terminally cleaved form of PINK1. (PubMed id 18031932)1, 9 Takatori S....Iwatsubo T. (Neurosci. Lett. 2008)
    73. Loss of PINK1 function promotes mitophagy through effects on oxidative stress and mitochondrial fission. (PubMed id 19279012)1, 9 Dagda R.K....Chu C.T. (J. Biol. Chem. 2009)
    74. The human PINK1 locus is regulated in vivo by a non-coding natural antisense RNA during modulation of mitochondrial function. (PubMed id 17362513)1, 9 Scheele C....Timmons J.A. (BMC Genomics 2007)
    75. PINK1 mutants associated with recessive Parkinson's disease are defective in inhibiting mitochondrial release of cytochrome c. (PubMed id 17707122)1, 9 Wang H.L....Yu S.T. (Neurobiol. Dis. 2007)
    76. PINK1 protects against oxidative stress by phosphorylating mitochondrial chaperone TRAP1. (PubMed id 17579517)1, 9 Pridgeon J.W....Li L. (PLoS Biol. 2007)
    77. Loss-of-function of human PINK1 results in mitochondrial pathology and can be rescued by parkin. (PubMed id 17989306)1, 9 Exner N....Haass C. (J. Neurosci. 2007)
    78. Perturbations in mitochondrial dynamics induced by human mutant PINK1 can be rescued by the mitochondrial division inhibitor mdivi-1. (PubMed id 20164189)1, 9 Cui M....Tieu K. (J. Biol. Chem. 2010)
    79. PINK1-dependent recruitment of Parkin to mitochondria in mitophagy. (PubMed id 19966284)2, 9 Vives-Bauza C.... Przedborski S. (Proc. Natl. Acad. Sci. U.S.A. 2010)
    80. Parkin and PINK1 mutations in early-onset Parkinson's disease: comprehensive screening in publicly available cases and control. (PubMed id 19351622)1, 9 Brooks J....Scholz S.W. (J. Med. Genet. 2009)
    81. Altered cleavage and localization of PINK1 to aggresomes in the presence of proteasomal stress. (PubMed id 16805805)1, 9 Muqit M.M....Latchman D.S. (J. Neurochem. 2006)
    82. Clinical spectrum of homozygous and heterozygous PINK1 mutations in a large German family with Parkinson disease: role of a single hit? (PubMed id 16769864)1, 9 Hedrich K....Klein C. (Arch. Neurol. 2006)
    83. Small interfering RNA targeting the PINK1 induces apoptosis in dopaminergic cells SH-SY5Y. (PubMed id 16226715)1, 9 Deng H....Le W. (Biochem. Biophys. Res. Commun. 2005)
    84. Molecular interaction between parkin and PINK1 in mammalian neuronal cells. (PubMed id 19167501)1, 9 Um J.W....Chung K.C. (Mol. Cell. Neurosci. 2009)
    85. PINK1 defect causes mitochondrial dysfunction, proteasomal deficit and alpha-synuclein aggregation in cell culture models of Parkinson's disease. (PubMed id 19242547)1, 9 Liu W....Li C. (PLoS ONE 2009)
    86. Familial Parkinsonism with digenic parkin and PINK1 mutations. (PubMed id 18546294)1, 9 Funayama M....Hattori N. (Mov. Disord. 2008)
    87. L347P PINK1 mutant that fails to bind to Hsp90/Cdc37 chaperones is rapidly degraded in a proteasome-dependent manner. (PubMed id 18359116)1, 9 Moriwaki Y....Takahashi R. (Neurosci. Res. 2008)
    88. Significance of the parkin and PINK1 gene in Jordanian families with incidences of young-onset and juvenile parkinsonism. (PubMed id 19087301)1, 9 Myhre R....Klungland H. (BMC Neurol 2008)
    89. Mutational analysis of the PINK1 gene in early-onset parkinsonism in Europe and North Africa. (PubMed id 16401616)2, 9 Ibanez P.... Brice A. (Brain 2006)
    90. PINK1 is recruited to mitochondria with parkin and associates with LC3 in mitophagy. (PubMed id 20153330)1, 9 Kawajiri S....Hattori N. (FEBS Lett. 2010)
    91. Formation of parkin aggregates and enhanced PINK1 accumulation during the pathogenesis of Parkinson's disease. (PubMed id 20171192)1, 9 Um J.W....Chung K.C. (Biochem. Biophys. Res. Commun. 2010)
    92. Parkin, PINK1, and DJ-1 form a ubiquitin E3 ligase complex promoting unfolded protein degradation. (PubMed id 19229105)1, 9 Xiong H....Zhang Z. (J. Clin. Invest. 2009)
    93. Silencing of PINK1 expression affects mitochondrial DNA and oxidative phosphorylation in dopaminergic cells. (PubMed id 19270741)1, 9 Gegg M.E....Taanman J.W. (PLoS ONE 2009)
    94. Transcranial sonography findings in a large family with homozygous and heterozygous PINK1 mutations. (PubMed id 18469032)1, 9 Hagenah J.M....Seidel G. (J. Neurol. Neurosurg. Psychiatr. 2008)
    95. Mutation analysis of the PINK1 gene in 391 patients with Parkinson disease. (PubMed id 18541801)1, 9 Kumazawa R....Hattori N. (Arch. Neurol. 2008)
    96. Expression of PINK1 mRNA in human and rodent brain and in Parkinson's disease. (PubMed id 17950257)1, 9 Blackinton J.G....Galter D. (Brain Res. 2007)
    97. Phosphorylation of parkin by Parkinson disease-linked kinase PINK1 activates parkin E3 ligase function and NF-kappaB signaling. (PubMed id 19880420)1, 9 Sha D....Li L. (Hum. Mol. Genet. 2010)
    98. Differential effects of PINK1 nonsense and missense mutations on mitochondrial function and morphology. (PubMed id 19500570)1, 9 GrA1newald A....Schapira A.H. (Exp. Neurol. 2009)
    99. PINK1 controls mitochondrial localization of Parkin through direct phosphorylation. (PubMed id 18957282)1, 9 Kim Y....Chung J. (Biochem. Biophys. Res. Commun. 2008)
    100. The kinase domain of mitochondrial PINK1 faces the cytoplasm. (PubMed id 18687899)2, 9 Zhou C.... Przedborski S. (Proc. Natl. Acad. Sci. U.S.A. 2008)
    101. Morphometric fingerprint of asymptomatic Parkin and PINK1 mutation carriers in the basal ganglia. (PubMed id 17724286)1, 9 Binkofski F....Klein C. (Neurology 2007)
    102. T313M PINK1 mutation in an extended highly consanguineous Saudi family with early-onset Parkinson disease. (PubMed id 17030667)2, 9 Chishti M.A.... Rogaeva E. (Arch. Neurol. 2006)
    103. Mutation analysis of the parkin and PINK1 genes in American Caucasian early-onset Parkinson disease families. (PubMed id 18068301)1, 9 Deng H....Jankovic J. (Neurosci. Lett. 2008)
    104. Late onset sporadic Parkinson's disease caused by PINK1 mutations: clinical and functional study. (PubMed id 18307263)1, 9 Gelmetti V....Valente E.M. (Mov. Disord. 2008)
    105. Mutation analysis of Parkin, PINK1, DJ-1 and ATP13A2 genes in Chinese patients with autosomal recessive early-onset Parkinsonism. (PubMed id 18785233)1, 9 Guo J.F....Tang B.S. (Mov. Disord. 2008)
    106. What have PINK1 and HtrA2 genes told us about the role of mitochondria in Parkinson's disease? (PubMed id 19076428)1, 9 Plun-Favreau H....Wood N.W. (Ann. N. Y. Acad. Sci. 2008)
    107. Whole gene deletion and splicing mutations expand the PINK1 genotypic spectrum. (PubMed id 17154281)1, 9 Marongiu R....Valente E.M. (Hum. Mutat. 2007)
    108. Mutations in PTEN-induced putative kinase 1 associated with recessive parkinsonism have differential effects on protein stability. (PubMed id 15824318)1, 9 Beilina A....Cookson M.R. (Proc. Natl. Acad. Sci. U.S.A. 2005)
    109. Decreased expression of Drp1 and Fis1 mediates mitochondrial elongation in senescent cells and enhances resistance to oxidative stress through PINK1. (PubMed id 20179104)1, 9 Mai S....Jendrach M. (J. Cell. Sci. 2010)
    110. PINK1/Parkin-mediated mitophagy is dependent on VDAC1 and p62/SQSTM1. (PubMed id 20098416)1, 9 Geisler S....Springer W. (Nat. Cell Biol. 2010)
    111. Mitochondrial quality control: insights on how Parkinson's disease related genes PINK1, parkin, and Omi/HtrA2 interact to maintain mitochondrial homeostasis. (PubMed id 20012177)1, 9 Dagda R.K. and Chu C.T. (J. Bioenerg. Biomembr. 2009)
    112. Leucine-Rich Repeat Kinase 2 interacts with Parkin, DJ-1 and PINK-1 in a Drosophila melanogaster model of Parkinson's disease. (PubMed id 19692353)1, 9 Venderova K....Park D.S. (Hum. Mol. Genet. 2009)
    113. Co-occurrence of affective and schizophrenia spectrum disorders with PINK1 mutations. (PubMed id 17202228)1, 9 Steinlechner S....Lencer R. (J. Neurol. Neurosurg. Psychiatr. 2007)
    114. The mitochondrial protease HtrA2 is regulated by Parkinson's disease-associated kinase PINK1. (PubMed id 17906618)1, 9 Plun-Favreau H....Downward J. (Nat. Cell Biol. 2007)
    115. PINK1 homozygous W437X mutation in a patient with apparent dominant transmission of parkinsonism. (PubMed id 16700027)1, 9 Criscuolo C....De Michele G. (Mov. Disord. 2006)
    116. Coexistence of mutations in PINK1 and mitochondrial DNA in early onset parkinsonism. (PubMed id 18524835)1, 9 Piccoli C....Capitanio N. (J. Med. Genet. 2008)
    117. The PINK1 phenotype can be indistinguishable from idiopathic Parkinson disease. (PubMed id 15955954)1, 9 Albanese A....Dallapiccola B. (Neurology 2005)
    118. LRRK2 gene in Parkinson disease: mutation analysis and case control association study. (PubMed id 16157901)1, 9 Paisan-Ruiz C....Rogaeva E. (Neurology 2005)
    119. PINK1 rendered temperature sensitive by disease-associated and engineered mutations. (PubMed id 23459931)1 Narendra D.P....Walker J.E. (Hum. Mol. Genet. 2013)
    120. PINK1 drives Parkin self-association and HECT-like E3 activity upstream of mitochondrial binding. (PubMed id 23319602)1 Lazarou M....Youle R.J. (J. Cell Biol. 2013)
    121. A dimeric PINK1-containing complex on depolarized mitochondria stimulates Parkin recruitment. (PubMed id 24189060)1 Okatsu K....Matsuda N. (J. Biol. Chem. 2013)
    122. Incidence of mutations in the PARK2, PINK1, PARK7 genes in Polish early-onset Parkinson disease patients. (PubMed id 23986421)1 Koziorowski D....Friedman A. (Neurol. Neurochir. Pol. 2013)
    123. Pathway Analysis of ChIP-Seq-Based NRF1 Target Genes Suggests a Logical Hypothesis of their Involvement in the Pathogenesis of Neurodegenerative Diseases. (PubMed id 24250222)1 Satoh J....Yamamoto Y. (Gene Regul Syst Bio 2013)
    124. AF-6 is a positive modulator of the PINK1/parkin pathway and is deficient in Parkinson's disease. (PubMed id 23393160)1 Haskin J....Engelender S. (Hum. Mol. Genet. 2013)
    125. Phosphatase and tensin homolog (PTEN)-induced putative kinase 1 (PINK1)-dependent ubiquitination of endogenous Parkin attenuates mitophagy: study in human primary fibroblasts and induced pluripotent stem cell-derived neurons. (PubMed id 23212910)1 Rakovic A....Klein C. (J. Biol. Chem. 2013)
    126. Altered expression of DJ-1 and PINK1 in sporadic ALS and in the SOD1(G93A) ALS mouse model. (PubMed id 24128678)1 Knippenberg S....Petri S. (J. Neuropathol. Exp. Neurol. 2013)
    127. PINK1 regulates histone H3 trimethylation and gene expression by interaction with the polycomb protein EED/WAIT1. (PubMed id 23959866)1 Berthier A....Pulido R. (Proc. Natl. Acad. Sci. U.S.A. 2013)
    128. Tom70 is essential for PINK1 import into mitochondria. (PubMed id 23472196)1 Kato H....Kozjak-Pavlovic V. (PLoS ONE 2013)
    129. PINK1 protects against cell death induced by mitochondrial depolarization, by phosphorylating Bcl-xL and impairing its pro-apoptotic cleavage. (PubMed id 23519076)1 Arena G....Valente E.M. (Cell Death Differ. 2013)
    130. TRAP1 rescues PINK1 loss-of-function phenotypes. (PubMed id 23525905)1 Zhang L....Voigt A. (Hum. Mol. Genet. 2013)
    131. Increase of oxidative stress by a novel PINK1 mutation, P209A. (PubMed id 23261939)1 Chien W.L....Fu W.M. (amp 2013)
    132. PINK1-phosphorylated mitofusin 2 is a Parkin receptor for culling damaged mitochondria. (PubMed id 23620051)2 Chen Y. and Dorn G.W. II (Science 2013)
    133. SARM1 and TRAF6 bind to and stabilize PINK1 on depolarized mitochondria. (PubMed id 23885119)1 Murata H....Huh N.H. (Mol. Biol. Cell 2013)
    134. Parkin mitochondrial translocation is achieved through a novel catalytic activity coupled mechanism. (PubMed id 23670163)1 Zheng X. and Hunter T. (Cell Res. 2013)
    135. Characterization of PINK1 (PTEN-induced putative kinase 1) mutations associated with Parkinson disease in mammalian cells and Drosophila. (PubMed id 23303188)1 Song S....Chung J. (J. Biol. Chem. 2013)
    136. The principal PINK1 and Parkin cellular events triggered in response to dissipation of mitochondrial membrane potential occur in primary neurons. (PubMed id 23751051)1 Koyano F....Matsuda N. (amp 2013)
    137. The BAG2 protein stabilises PINK1 by decreasing its ubiquitination. (PubMed id 24383081)1 Che X....Guo J. (Biochem. Biophys. Res. Commun. 2013)
    138. Function and characteristics of PINK1 in mitochondria. (PubMed id 23533695)1 Matsuda S....Kobayashi M. (Oxid Med Cell Longev 2013)
    139. Genetic bases and phenotypes of autosomal recessive Parkinson disease in a Turkish population. (PubMed id 22233331)1 Lohmann E....Emre M. (Eur. J. Neurol. 2012)
    140. PINK1 positively regulates IL-1I^-mediated signaling through Tollip and IRAK1 modulation. (PubMed id 23244239)1 Lee H.J. and Chung K.C. (J Neuroinflammation 2012)
    141. Microtubule affinity-regulating kinase 2 (MARK2) turns on phosphatase and tensin homolog (PTEN)-induced kinase 1 (PINK1) at Thr-313, a mutation site in Parkinson disease: effects on mitochondrial transport. (PubMed id 22238344)1 Matenia D....Mandelkow E.M. (J. Biol. Chem. 2012)
    142. PINK1 is activated by mitochondrial membrane potential depolarization and stimulates Parkin E3 ligase activity by phosphorylating Serine 65. (PubMed id 22724072)1 Kondapalli C....Muqit M.M. (Open Biol 2012)
    143. PINK1-mediated phosphorylation of the Parkin ubiquitin-like domain primes mitochondrial translocation of Parkin and regulates mitophagy. (PubMed id 23256036)1 Shiba-Fukushima K....Hattori N. (Sci Rep 2012)
    144. Pink1 kinase and its membrane potential (DeltaI8)-dependent cleavage product both localize to outer mitochondrial membrane by unique targeting mode. (PubMed id 22547060)1 Becker D....Voos W. (J. Biol. Chem. 2012)
    145. Partial sensitization of human bladder cancer cells to a gene-therapeutic adenovirus carrying REIC/Dkk-3 by downregulation of BRPK/PINK1. (PubMed id 22076283)1 Jin Y....Huh N.H. (Oncol. Rep. 2012)
    146. Regulation of parkin and PINK1 by neddylation. (PubMed id 22388932)1 Choo Y.S....Zhang Z. (Hum. Mol. Genet. 2012)
    147. Compensatory premotor activity during affective face processing in subclinical carriers of a single mutant Parkin allele. (PubMed id 22434215)1 Anders S....Binkofski F. (Brain 2012)
    148. Mitochondrial processing peptidase regulates PINK1 processing, import and Parkin recruitment. (PubMed id 22354088)1 Greene A.W....Fon E.A. (EMBO Rep. 2012)
    149. Mutation analysis of the PINK1 gene in Southern Italian patients with early- and late-onset parkinsonism. (PubMed id 21925922)1 Scornaienchi V....Quattrone A. (amp 2012)
    150. Parkinson's disease-associated kinase PINK1 regulates Miro protein level and axonal transport of mitochondria. (PubMed id 22396657)1 Liu S....Lu B. (PLoS Genet. 2012)
    151. Role of PINK1 binding to the TOM complex and alternate intracellular membranes in recruitment and activation of the E3 ligase Parkin. (PubMed id 22280891)1 Lazarou M....Youle R.J. (Dev. Cell 2012)
    152. Analysis of LRRK2, SNCA, Parkin, PINK1, and DJ-1 in Zambian patients with Parkinson's disease. (PubMed id 22445250)1 Yonova-Doing E....Bonifati V. (amp 2012)
    153. PINK1 stimulates interleukin-1I^-mediated inflammatory signaling via the positive regulation of TRAF6 and TAK1. (PubMed id 22643835)1 Lee H.J....Chung K.C. (Cell. Mol. Life Sci. 2012)
    154. The bioenergetic status relates to dopamine neuron loss in familial PD with PINK1 mutations. (PubMed id 23251494)1 Hilker R....Hattingen E. (PLoS ONE 2012)
    155. PINK1 overexpression protects against C2-ceramide-induced CAD cell death through the PI3K/AKT pathway. (PubMed id 22212487)1 SA!nchez-Mora R.M....Arboleda G. (J. Mol. Neurosci. 2012)
    156. Kinase signaling dysfunction in Parkinson's disease: a reverse genetic approach in Drosophila. (PubMed id 22486164)1 Huang Y....Li C. (J. Neurogenet. 2012)
    157. Combined expression of BUB1B, DLGAP5, and PINK1 as predictors of poor outcome in adrenocortical tumors: validation in a Brazilian cohort of adult and pediatric patients. (PubMed id 22048964)1 Fragoso M.C....Lerario A.M. (Eur. J. Endocrinol. 2012)
    158. Parkin, PINK1 and mitochondrial integrity: emerging concepts of mitochondrial dysfunction in Parkinson's disease. (PubMed id 22057787)1 Pilsl A. and Winklhofer K.F. (Acta Neuropathol. 2012)
    159. Quantitative analysis of HSP90-client interactions reveals principles of substrate recognition. (PubMed id 22939624)1 Taipale M....Lindquist S. (Cell 2012)
    160. Phylogenetic and in silico structural analysis of the Parkinson disease-related kinase PINK1. (PubMed id 21412950)1 Cardona F....PAcrez-Tur J. (Hum. Mutat. 2011)
    161. Genetic mutations and functions of PINK1. (PubMed id 21784538)1 Kawajiri S....Hattori N. (Trends Pharmacol. Sci. 2011)
    162. Impairment of oxidative stress-induced heme oxygenase-1 expression by the defect of Parkinson-related gene of PINK1. (PubMed id 21366594)1 Chien W.L....Fu W.M. (J. Neurochem. 2011)
    163. Association of Parkinson disease-related protein PINK1 with Alzheimer disease and multiple sclerosis brain lesions. (PubMed id 21145388)1 Wilhelmus M.M....Van Horssen J. (amp 2011)
    164. Global identification of modular cullin-RING ligase substrates. (PubMed id 21963094)1 Emanuele M.J....Elledge S.J. (Cell 2011)
    165. Variation in the PTEN-induced putative kinase 1 gene associated with the increase risk of type 2 diabetes in northern Chinese. (PubMed id 21677397)1 Qu Y....Han R. (J. Genet. 2011)
    166. PINK1 and Parkin target Miro for phosphorylation and degradation to arrest mitochondrial motility. (PubMed id 22078885)1 Wang X....Schwarz T.L. (Cell 2011)
    167. Ubiquitin ligase substrate identification through quantitative proteomics at both the protein and peptide levels. (PubMed id 21987572)1 Lee K.A....Doedens J.R. (J. Biol. Chem. 2011)
    168. Bioenergetic consequences of PINK1 mutations in Parkinson disease. (PubMed id 22043288)1 Abramov A.Y....Schapira A.H. (PLoS ONE 2011)
    169. PINK1 displays tissue-specific subcellular location and regulates apoptosis and cell growth in breast cancer cells. (PubMed id 20971498)1 Berthier A....Pulido R. (Hum. Pathol. 2011)
    170. A new cytosolic pathway from a Parkinson disease-associated kinase, BRPK/PINK1: activation of AKT via mTORC2. (PubMed id 21177249)1 Murata H....Huh N.H. (J. Biol. Chem. 2011)
    171. PTEN-inducible kinase 1 (PINK1)/Park6 is indispensable for normal heart function. (PubMed id 21606348)1 Billia F....Mak T.W. (Proc. Natl. Acad. Sci. U.S.A. 2011)
    172. Regulation of PINK1-Parkin-mediated mitophagy. (PubMed id 21187721)1 Springer W. and Kahle P.J. (Autophagy 2011)
    173. Functional alteration of PARL contributes to mitochondrial dysregulation in Parkinson's disease. (PubMed id 21355049)1 Shi G....Bulman D.E. (Hum. Mol. Genet. 2011)
    174. The mitochondrial intramembrane protease PARL cleaves human Pink1 to regulate Pink1 trafficking. (PubMed id 21426348)1 Meissner C....Lemberg M.K. (J. Neurochem. 2011)
    175. PRKN, DJ-1, and PINK1 screening identifies novel splice site mutation in PRKN and two novel DJ-1 mutations. (PubMed id 21322020)1 Ghazavi F....Elahi E. (Mov. Disord. 2011)
    176. PINK1 cleavage at position A103 by the mitochondrial protease PARL. (PubMed id 21138942)1 Deas E....Wood N.W. (Hum. Mol. Genet. 2011)
    177. Mutation analysis of PINK1 gene in patients with early-onset Parkinsonism. (PubMed id 21743139)1 Zhang X....Tang B. (Zhong Nan Da Xue Xue Bao Yi Xue Ban 2011)
    178. Mutations in PINK1 and Parkin impair ubiquitination of Mitofusins in human fibroblasts. (PubMed id 21408142)1 Rakovic A....Klein C. (PLoS ONE 2011)
    179. Parallel high-throughput RNA interference screens identify PINK1 as a potential therapeutic target for the treatment of DNA mismatch repair-deficient cancers. (PubMed id 21242281)1 Martin S.A....Ashworth A. (Cancer Res. 2011)
    180. Inhibition of mitochondrial fusion by I+-synuclein is rescued by PINK1, Parkin and DJ-1. (PubMed id 20842103)1 Kamp F....Haass C. (EMBO J. 2010)
    181. Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update. (PubMed id 20506312)1 Nuytemans K....Van Broeckhoven C. (Hum. Mutat. 2010)
    182. Progression of subtle motor signs in PINK1 mutation carriers with mild dopaminergic deficit. (PubMed id 20513816)1 Eggers C....Klein C. (Neurology 2010)
    183. R492X mutation in PTEN-induced putative kinase 1 induced cellular mitochondrial dysfunction and oxidative stress. (PubMed id 20547144)1 Yuan X.L....Tang B.S. (Brain Res. 2010)
    184. PINK1-linked parkinsonism is associated with Lewy body pathology. (PubMed id 20356854)1 Samaranch L....Pastor P. (Brain 2010)
    185. The loss of PGAM5 suppresses the mitochondrial degeneration caused by inactivation of PINK1 in Drosophila. (PubMed id 21151955)1 Imai Y....Takahashi R. (PLoS Genet. 2010)
    186. Effect of endogenous mutant and wild-type PINK1 on Parkin in fibroblasts from Parkinson disease patients. (PubMed id 20508036)1 Rakovic A....Klein C. (Hum. Mol. Genet. 2010)
    187. Single-nucleotide polymorphisms, acute rejection, and severity of tubulitis in kidney transplantation, accounting for center-to-center variation. (PubMed id 21085059)4 Israni A....Oetting W.S. (Transplantation 2010)
    188. Mitofusin 1 and mitofusin 2 are ubiquitinated in a PINK1/parkin-dependent manner upon induction of mitophagy. (PubMed id 20871098)1 Gegg M.E....Taanman J.W. (Hum. Mol. Genet. 2010)
    189. Enhanced vulnerability of PARK6 patient skin fibroblasts to apoptosis induced by proteasomal stress. (PubMed id 20045449)1 Klinkenberg M....KAPgel D. (Neuroscience 2010)
    190. Oxidative stress alters the regulatory control of p66Shc and Akt in PINK1 deficient cells. (PubMed id 20637729)1 Maj M.C....Robinson B.H. (Biochem. Biophys. Res. Commun. 2010)
    191. Gene expression profiling reveals a new classification of adrenocortical tumors and identifies molecular predictors of malignancy and survival. (PubMed id 19139432)1 de ReyniA"s A....Bertherat J. (J. Clin. Oncol. 2009)
    192. Mitochondrial respiratory dysfunction and mutations in mitochondrial DNA in PINK1 familial parkinsonism. (PubMed id 19904588)1 Papa S....Piccoli C. (J. Bioenerg. Biomembr. 2009)
    193. Clinically reported heterozygous mutations in the PINK1 kinase domain exert a gene dosage effect. (PubMed id 19847793)1 Tan E.K....Zhao Y. (Hum. Mutat. 2009)
    194. A new complex homozygous large rearrangement of the PINK1 gene in a Sudanese family with early onset Parkinson's disease. (PubMed id 19214605)1 Cazeneuve C....Salih M.A. (Neurogenetics 2009)
    195. PINK1-associated Parkinson's disease is caused by neuronal vulnerability to calcium-induced cell death. (PubMed id 19285945)1 Gandhi S....Abramov A.Y. (Mol. Cell 2009)
    196. Olfactory dysfunction in Parkinsonism caused by PINK1 mutations. (PubMed id 19890973)1 Ferraris A....Bentivoglio A.R. (Mov. Disord. 2009)
    197. Different saccadic abnormalities in PINK1 mutation carriers and in patients with non-genetic Parkinson's disease. (PubMed id 19330279)1 Hertel S....Kimmig H. (J. Neurol. 2009)
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    200. Limbic and frontal cortical degeneration is associated with psychiatric symptoms in PINK1 mutation carriers. (PubMed id 18261714)1 Reetz K....Binkofski F. (Biol. Psychiatry 2008)
    201. PINK1 is necessary for long term survival and mitochondrial function in human dopaminergic neurons. (PubMed id 18560593)1 Wood-Kaczmar A....Wood N.W. (PLoS ONE 2008)
    202. Sleep quality in a family with hereditary parkinsonism (PARK6). (PubMed id 17766179)1 Tuin I....Auburger G. (Sleep Med. 2008)
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    204. Patterns of somatic mutation in human cancer genomes. (PubMed id 17344846)2 Greenman C.... Stratton M.R. (Nature 2007)
    205. Novel features in a patient homozygous for the L347P mutation in the PINK1 gene. (PubMed id 17055324)1 Doostzadeh J....SchA1le B. (amp 2007)
    206. Mitochondrial dysfunction, peroxidation damage and changes in glutathione metabolism in PARK6. (PubMed id 17141510)1 Hoepken H.H....Auburger G. (Neurobiol. Dis. 2007)
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    208. Altered regulation of the PINK1 locus: a link between type 2 diabetes and neurodegeneration? (PubMed id 17567565)1 Scheele C....Timmons J.A. (FASEB J. 2007)
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    211. Synphilin-1 and parkin show overlapping expression patterns in human brain and form aggresomes in response to proteasomal inhibition. (PubMed id 15894486)1 Bandopadhyay R....Lees A.J. (Neurobiol. Dis. 2005)
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    227. The Parkinson-associated protein PINK1 interacts with Beclin1 and promotes autophagy. (PubMed id 20057503)9 Michiorri S....Casari G. (Cell Death Differ. 2010)
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    229. Pink1 suppresses alpha-synuclein-induced phenotypes in a Drosophila model of Parkinson's disease. (PubMed id 19088817)9 Todd A.M. and Staveley B.E. (Genome 2008)
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    232. Existence of Pink1 antisense RNAs in mouse and their localization. (PubMed id 20068297)9 Chiba M....Yasue H. (Cytogenet. Genome Res. 2009)
    233. Loss of parkin or PINK1 function increases Drp1-dependent mitochondrial fragmentation. (PubMed id 19546216)9 Lutz A.K....Winklhofer K.F. (J. Biol. Chem. 2009)
    234. Cytoplasmic Pink1 activity protects neurons from dopaminergic neurotoxin MPTP. (PubMed id 18218782)9 Haque M.E....Park D.S. (Proc. Natl. Acad. Sci. U.S.A. 2008)
    235. The mitochondrial fusion-promoting factor mitofusin is a substrate of the PINK1/parkin pathway. (PubMed id 20383334)9 Poole A.C....Pallanck L. (PLoS ONE 2010)
    236. Drosophila HtrA2 is dispensable for apoptosis but acts downstream of PINK1 independently from Parkin. (PubMed id 19282869)9 Tain L.S....Tapon N. (Cell Death Differ. 2009)
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    254. Mapping preclinical compensation in Parkinson's disease: an imaging genomics approach. (PubMed id 19877238)9 van Nuenen B.F....Siebner H.R. (Mov. Disord. 2009)
    255. Mitochondrial dysfunction and Parkinson's disease genes: insights from Drosophila. (PubMed id 19553694)9 Park J....Chung J. (amp 2009)
    256. Myocardial 123metaiodobenzylguanidine uptake in genetic Parkinson's disease. (PubMed id 17975812)9 Quattrone A....Condino F. (Mov. Disord. 2008)
    257. Mitochondrial respiratory dysfunction in familiar parkinsonism associated with PINK1 mutation. (PubMed id 18473170)9 Piccoli C....Papa S. (Neurochem. Res. 2008)
    258. Emerging pathways in genetic Parkinson's disease: autosomal-recessive genes in Parkinson's disease--a common pathway? (PubMed id 19021753)9 Fitzgerald J.C. and Plun-Favreau H. (FEBS J. 2008)
    259. High-throughput homogeneous mass cleave assay technology for the diagnosis of autosomal recessive Parkinson's disease. (PubMed id 18403612)9 Schroeder C....Bonin M. (J Mol Diagn 2008)
    260. Loss-of-function analysis suggests that Omi/HtrA2 is not an essential component of the PINK1/PARKIN pathway in vivo. (PubMed id 19118185)9 Yun J....Guo M. (J. Neurosci. 2008)
    261. Multiplex ligation-dependent probe amplification assay for simultaneous detection of Parkinson's disease gene rearrangements. (PubMed id 17914726)9 Scarciolla O....Dallapiccola B. (Mov. Disord. 2007)
    262. Impaired dopamine release and synaptic plasticity in the striatum of PINK1-deficient mice. (PubMed id 17563363)9 Kitada T....Shen J. (Proc. Natl. Acad. Sci. U.S.A. 2007)
    263. DJ-1: a newcomer in Parkinson's disease pathology. (PubMed id 18045143)9 da Costa C.A. (Curr. Mol. Med. 2007)
    264. Etiology of Parkinson's disease. (PubMed id 16717248)9 Schapira A.H. (Neurology 2006)
    265. The biochemistry of Parkinson's disease. (PubMed id 15952880)9 Cookson M.R. (Annu. Rev. Biochem. 2005)
    266. Genetics of Parkinson's disease. (PubMed id 16175160)9 Bonifati V. (Minerva Med. 2005)
    267. Homozygous PINK1 C-terminus mutation causing early-onset parkinsonism. (PubMed id 15349871)9 RohAc C.F....Bonifati V. (Ann. Neurol. 2004)
    268. Mitochondrial metabolism modulation: a new therapeutic approach for Parkinson's disease. (PubMed id 20201821)9 ArduA-no D.M....Cardoso S.M. (amp 2010)
    269. Genetic basis of Parkinson disease. (PubMed id 20043722)9 Xiromerisiou G....Hadjigeorgiou G.M. (Neurosurg Focus 2010)
    270. Curcumin exposure induces expression of the Parkinson's disease-associated leucine-rich repeat kinase 2 (LRRK2) in rat mesencephalic cells. (PubMed id 19879924)9 Ortiz-Ortiz M.A....Fuentes J.M. (Neurosci. Lett. 2010)
    271. Parkinson's disease: insights from pathways. (PubMed id 20421364)9 Cookson M.R. and Bandmann O. (Hum. Mol. Genet. 2010)
    272. Synphilin-1A inhibits seven in absentia homolog (SIAH) and modulates alpha-synuclein monoubiquitylation and inclusion formation. (PubMed id 19224863)9 Szargel R.... Engelender S. (J. Biol. Chem. 2009)
    273. Mutation analysis for DJ-1 in sporadic and familial parkinsonism: screening strategy in parkinsonism. (PubMed id 19429112)9 Tomiyama H....Hattori N. (Neurosci. Lett. 2009)
    274. Cell death pathways in Parkinson's disease: role of mitochondria. (PubMed id 19422283)9 Yao Z. and Wood N.W. (amp 2009)
    275. Etiology and pathogenesis of Parkinson disease. (PubMed id 19555823)9 Schapira A.H. (Neurol Clin 2009)
    276. Imaging the impact of genes on Parkinson's disease. (PubMed id 19409223)9 van der Vegt J.P....Siebner H.R. (Neuroscience 2009)
    277. Mutant Pink1 induces mitochondrial dysfunction in a neuronal cell model of Parkinson's disease by disturbing calcium flux. (PubMed id 19166511)9 Marongiu R....Masliah E. (J. Neurochem. 2009)
    278. Impaired mitochondrial dynamics and function in the pathogenesis of Parkinson's disease. (PubMed id 19303005)9 BA1eler H. (Exp. Neurol. 2009)
    279. Caenorhabditits elegans LRK-1 and PINK-1 act antagonistically in stress response and neurite outgrowth. (PubMed id 19251702)9 SAomann J....Schmidt E. (J. Biol. Chem. 2009)
    280. Molecular pathogenesis of Parkinson disease: insights from genetic studies. (PubMed id 19631006)9 Gasser T. (Expert Rev Mol Med 2009)
    281. Protein degradation in Parkinson disease revisited: it's complex. (PubMed id 19306499)9 Li H. and Guo M. (J. Clin. Invest. 2009)
    282. Parkinson's disease: from monogenic forms to genetic susceptibility factors. (PubMed id 19297401)9 Lesage S. and Brice A. (Hum. Mol. Genet. 2009)
    283. Molecular basis of Parkinson's disease. (PubMed id 19151598)9 Yang Y.X....Latchman D.S. (Neuroreport 2009)
    284. Mitochondrial kinases in Parkinson's disease: converging insights from neurotoxin and genetic models. (PubMed id 19563915)9 Dagda R.K....Chu C.T. (Mitochondrion 2009)
    285. Mitochondrial dysfunction and biogenesis in the pathogenesis of Parkinson's disease. (PubMed id 20035637)9 Lin T.K....Chuang J.H. (Chang Gung Med J 2009)
    286. From genes to proteins in mendelian Parkinson's disease: an overview. (PubMed id 19943343)9 Pirkevi C....BaA9ak A.N. (Anat Rec (Hoboken) 2009)
    287. Complicated recessive dystonia parkinsonism syndromes. (PubMed id 19185014)9 Schneider S.A....Hardy J. (Mov. Disord. 2009)
    288. The role of PTEN-induced kinase 1 in mitochondrial dysfunction and dynamics. (PubMed id 19703660)9 Thomas K.J. and Cookson M.R. (amp 2009)
    289. Is there a pathogenic role for mitochondria in Parkinson's disease? (PubMed id 20083000)9 Vives-Bauza C....Przedborski S. (amp 2009)
    290. Neurodegeneration in Parkinson's disease: genetics enlightens physiopathology. (PubMed id 20411780)9 Corti O....Brice A. (J. Neural Transm. Suppl. 2009)
    291. Transgenic rodent models of Parkinson's disease. (PubMed id 18642640)9 Harvey B.K....Hoffer B.J. (Acta Neurochir. Suppl. 2008)
    292. Mitochondrial biology and oxidative stress in Parkinson disease pathogenesis. (PubMed id 18978800)9 Henchcliffe C. and Beal M.F. (Nat Clin Pract Neurol 2008)
    293. Genetic findings in Parkinson's disease and translation into treatment: a leading role for mitochondria? (PubMed id 17680806)9 Bogaerts V....van Broeckhoven C. (Genes Brain Behav. 2008)
    294. Parkinson's disease: a genetic perspective. (PubMed id 18279377)9 Belin A.C. and Westerlund M. (FEBS J. 2008)
    295. Parkinson's disease in Arabs: a systematic review. (PubMed id 18442138)9 Benamer H.T....Grosset D.G. (Mov. Disord. 2008)
    296. Mitochondria in the aetiology and pathogenesis of Parkinson's disease. (PubMed id 18093566)9 Schapira A.H. (Lancet Neurol 2008)
    297. [Parkin and mitochondria]. (PubMed id 18717196)9 Mitsui T....Kaji R. (Brain Nerve 2008)
    298. Mutation analyses in amyotrophic lateral sclerosis/parkinsonism-dementia complex of the Kii peninsula, Japan. (PubMed id 18759352)9 Tomiyama H....Kuzuhara S. (Mov. Disord. 2008)
    299. Update on the pathogenesis of Parkinson's disease. (PubMed id 18787877)9 Schulz J.B. (J. Neurol. 2008)
    300. Parkinson's disease. (PubMed id 17911161)9 Thomas B. and Beal M.F. (Hum. Mol. Genet. 2007)
    301. Mitochondrial dysfunction in neurodegenerative disorders. (PubMed id 17956319)9 Baron M....Kunz W.S. (Biochem. Soc. Trans. 2007)
    302. Mitochondria mass is low in mouse substantia nigra dopamine neurons: implications for Parkinson's disease. (PubMed id 17010972)9 Liang C.L....German D.C. (Exp. Neurol. 2007)
    303. Genetics of parkinsonism. (PubMed id 18267242)9 Bonifati V. (amp 2007)
    304. [The role of JNK pathway in familial Parkinson's disease]. (PubMed id 18399358)9 Jankowski M. (Postepy Biochem. 2007)
    305. Prevalence of spinocerebellar ataxia type 2 mutation among Italian Parkinsonian patients. (PubMed id 17149720)9 Modoni A....Silvestri G. (Mov. Disord. 2007)
    306. [Pathology of familial Parkinson's disease]. (PubMed id 17713121)9 Wakabayashi K. and Takahashi H. (Brain Nerve 2007)
    307. Effects of gender on nigral gene expression and parkinson disease. (PubMed id 17412603)9 Cantuti-Castelvetri I....Standaert D.G. (Neurobiol. Dis. 2007)
    308. Pathogenic mutations in Parkinson disease. (PubMed id 17385668)9 Tan E.K. and Skipper L.M. (Hum. Mutat. 2007)
    309. Neuronal death and survival under oxidative stress in Alzheimer and Parkinson diseases. (PubMed id 18220780)9 Nunomura A....Perry G. (amp 2007)
    310. Parkinson disease, 10 years after its genetic revolution: multiple clues to a complex disorder. (PubMed id 17761553)9 Klein C. and Schlossmacher M.G. (Neurology 2007)
    311. Environmental neurotoxic chemicals-induced ubiquitin proteasome system dysfunction in the pathogenesis and progression of Parkinson's disease. (PubMed id 17521740)9 Sun F....Kanthasamy A.G. (amp 2007)
    312. Impact of recent genetic findings in Parkinson's disease. (PubMed id 17620882)9 Klein C. and Lohmann-Hedrich K. (Curr. Opin. Neurol. 2007)

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    Entrez Gene: 65018 HGNC: 14581 AceView: PINK1 Ensembl:ENSG00000158828 euGenes: HUgn65018
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