CLN3 Gene

Aliases
for CLN3 gene

Previous GC identifers: GC16P028406 GC16P028790 GC16P028559 GC16P028601 GC16M028396 GC16M026514

Summaries
for CLN3 gene

Genomic Views
for CLN3 gene

RefSeq DNA sequence:

NC_000016.9  NC_018927.1  NT_010393.16  

SwitchGear Promoter luciferase reporter plasmid: CLN3 promoter sequence

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat CLN3

CLN3 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)


GeneLoc information about chromosome 16         GeneLoc Exon Structure

GeneLoc location for GC16M028488:  view genomic region     (about GC identifiers)

Proteins
for CLN3 gene

Explore the universe of human proteins at neXtProt for CLN3: NX_Q13286

Post-translational modifications:

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	Novus Biologicals CLN3 Protein Novus Biologicals CLN3 Lysates
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	Uscn Proteins for CLN3

Gene Ontology (GO): 5/21 cellular component terms (GO ID links to tree view) (see all 21):    About this table

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	Abcam antibodies for CLN3
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	Uscn ELISAs and CLIAs for CLN3

Protein Domains /
Families
for CLN3 gene

ProtoNet protein and cluster: Q13286

Function
for CLN3 gene

     Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view):    About this table

(inferred from 5 alleles) (MGI details for Cln3)

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for CLN3

miRNA Products:		OriGene 3'-UTR Clone (see all 2): CLN3 Browse MicroRNA Expression Plasmids
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		SwitchGear 3'UTR luciferase reporter plasmid: CLN3 3' UTR sequence

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		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for CLN3 (see all 7) OriGene shRNA RFP: CLN3 Browse OriGene siRNA
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In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CLN3

Pathways & Interactions
for CLN3 gene

	Super-pathway	contained gene-specific pathways
1	Lysosome	Lysosome 1.00

1         Kegg Pathway  (Kegg details for CLN3)

Lysosome

Gene Ontology (GO): 5/32 biological process terms (GO ID links to tree view) (see all 32):    About this table

Drugs & Compounds
for CLN3 gene

Transcripts
for CLN3 gene

Expression
for CLN3 gene

CLN3 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: CCTTCTGAAT

About this image
See CLN3 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for CLN3

SOURCE GeneReport for Unigene cluster: Hs.534667
    SABiosciences Expression via Pathway-Focused PCR Arrays including CLN3: 

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for CLN3 Browse OriGene validated miRNA SYBR primer pairs
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In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for CLN3

Orthologs
for CLN3 gene

Paralogs
for CLN3 gene

Paralogs for CLN3 gene

ENSG00000261832²  

CLN3 for paralogs           About GeneDecksing

Genomic Variants
for CLN3 gene

10/352 NCBI SNPs in CLN3 are shown (see all 352)     About this table

Genomic Data					Transcription Related Data				Allele Frequencies
SNP ID	Valid	Clinical significance	Chr 16 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	--	--	--	-1st2nd3rd	--	--	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd
rs798429251,2	C,F	--	26513800(+)	GCATGA/GATGAA	2	--	ds5001		1		WA	118
rs746889221,2	C	--	26514092(+)	GCCTAC/GGTGAC	2	--	ds5001		1		WA	2
rs10649121,2	C	--	26514286(-)	GCCTTC/TTGAAT	2	--	ut31		2		NA	4
rs1131127661,2	C	--	26514341(+)	CCCCCG/TGCAAG	2	--	ut31		1		CSA	2
rs1138452991,2		--	26514397(+)	GGCTGG/AGAGCA	2	--	ut31		1		CSA	2
rs10648861,2	C	--	26514571(-)	TGCATC/TTCTGA	4	I	syn1 ese3		2		NA	4
rs740168151,2	C	--	26514912(+)	GGAGAG/AGTGGC	2	--	int1		2		WA	120
rs25204251,2	C	--	26515641(-)	CTTCCT/CTTAAG	2	--	int1		1		NA	2
rs1126855171,2		--	26516098(+)	CCAGCC/ACTGAC	2	--	int1		1		CSA	2
rs26503681,2	C,H	--	26516936(-)	TATGGC/AAAAAG	2	--	int1		2		NS NA	174

HapMap Linkage Disequilibrium report for CLN3 (28477983 - 28506896 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 4 variations for CLN3
     3 CNVs: 30770 4937 3999
     1 Indel: 11833
Human Gene Mutation Database (HGMD): CLN3

Locus Specific Mutation Databases (LSDB): CLN3

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing CLN3

DNA2.0 Custom Variant and Variant Library Synthesis for CLN3

Disorders / Diseases
for CLN3 gene

20/32 diseases for CLN3

10/12 Novoseek disease relationships for CLN3 gene (see all 12)    About this table

Publications
for CLN3 gene

PubMed articles for CLN3 gene, integrated from 9 sources (see all 172) (see top 10): (articles sorted by number of sources associating them with CLN3)

Utopia: connect your pdf to the dynamic world of online information

1. Expression studies of CLN3 protein (battenin) in fusion with the green fluorescent protein in mammalian cells in vitro. (PubMed id 10191115)^{1, 2, 9} Golabek A.A....Wisniewski K.E. (1999)
2. Genomic structure and complete nucleotide sequence of the Batten disease gene, CLN3. (PubMed id 9119403)^{1, 2, 9} Mitchison H.M.... Mole S.E. (1997)
3. C-terminal prenylation of the CLN3 membrane glycoprotein is required for efficient endosomal sorting to lysosomes. (PubMed id 17286803)^{1, 2, 9} Storch S....Braulke T. (2007)
4. Spectrum of mutations in the Batten disease gene, CLN3. (PubMed id 9311735)^{1, 2, 9} Munroe P.B.... Mole S.E. (1997)
5. Molecular screening of Batten disease: identification of a missense mutation (E295K) in the CLN3 gene. (PubMed id 9490299)^{1, 2, 9} Zhong N.... Brown W.T. (1998)
6. Isolation of a novel gene underlying Batten disease, CLN3. (PubMed id 7553855)^{1, 2, 9} Lerner T.J.... Mole S.E. (1995)
7. CLN3p impacts galactosylceramide transport, raft morphology, and lipid content. (PubMed id 18317235)^{1, 3, 9} Rusyn E....Boustany R.M. (2008)
8. Neuronal ceroid lipofuscinosis protein CLN3 interacts with motor proteins and modifies location of late endosomal compartments. (PubMed id 22261744)^{1, 2} Uusi-Rauva K.... Jalanko A. (2012)
9. Global, in vivo, and site-specific phosphorylation dynamics in signaling networks. (PubMed id 17081983)^{1, 2} Olsen J.V....Mann M. (2006)
10. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)^{1, 2} Ota T.... Sugano S. (2004)
11. An unappreciated role for RNA surveillance. (PubMed id 14759258)^{1, 2} Hillman R.T.... Brenner S.E. (2004)
12. 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. (2004)
13. Genome duplications and other features in 12 Mb of DNA sequence from human chromosome 16p and 16q. (PubMed id 10493829)^{1, 2} Loftus B.J.... Adams M.D. (1999)
14. Studies of membrane association of CLN3 protein. (PubMed id 10191112)^{1, 9} Kaczmarski W....Michalewski M. (1999)
15. CLN3 protein is targeted to neuronal synapses but excluded from synaptic vesicles: new clues to Batten disease. (PubMed id 11590129)^{1, 9} Luiro K....Jalanko A. (2001)
16. Intracellular trafficking of the JNCL protein CLN3. (PubMed id 10191111)^{1, 9} Haskell R.E....Davidson B.L. (1999)
17. Expression of cln3 in human NT2 neuronal precursor cells and neonatal rat brain. (PubMed id 10509355)^{1, 9} Pane M.A....Boustany R.M. (1999)
18. CLN3, the protein associated with batten disease: structure, function and localization. (PubMed id 15657902)^{1, 9} Phillips S.N....Pearce D.A. (2005)
19. Tissue expression and subcellular localization of CLN3, the Batten disease protein. (PubMed id 10191116)^{1, 9} Margraf L.R....Bennett M.J. (1999)
20. Interconnections of CLN3, Hook1 and Rab proteins link Batten disease to defects in the endocytic pathway. (PubMed id 15471887)^{1, 9} Luiro K....Jalanko A. (2004)
21. Novel CLN3 mutation predicted to cause complete loss of protein function does not modify the classical JNCL phenotype. (PubMed id 16087292)^{1, 9} Kwon J.M....Pearce D.A. (2005)
22. A dileucine motif and a cluster of acidic amino acids in the second cytoplasmic domain of the batten disease-related CLN3 protein are required for efficient lysosomal targeting. (PubMed id 15469932)^{1, 9} Storch S....Braulke T. (2004)
23. Two motifs target Batten disease protein CLN3 to lysosomes in transfected nonneuronal and neuronal cells. (PubMed id 14699076)^{1, 9} Kyttala A....Luzio J.P. (2004)
24. Interactions between the juvenile Batten disease gene, CLN3, and the Notch and JNK signalling pathways. (PubMed id 19028667)^{1, 9} Tuxworth R.I....Tear G. (2009)
25. A function retained by the common mutant CLN3 protein is responsible for the late onset of juvenile neuronal ceroid lipofuscinosis. (PubMed id 17947292)^{1, 9} Kitzmuller C.... Mole S.E. (2008)
26. Biosynthesis and intracellular targeting of the CLN3 protein defective in Batten disease. (PubMed id 9384607)^{1, 9} Jarvela I....Jalanko A. (1998)
27. Transcript and in silico analysis of CLN3 in juvenile neuronal ceroid lipofuscinosis and associated mouse models. (PubMed id 18678598)^{1, 9} Chan C.H....Pearce D.A. (2008)
28. btn1, the Schizosaccharomyces pombe homologue of the human Batten disease gene CLN3, regulates vacuole homeostasis. (PubMed id 16291725)^{1, 9} Gachet Y....Mole S.E. (2005)
29. CLN3 protein regulates lysosomal pH and alters intracellular processing of Alzheimer's amyloid-beta protein precursor and cathepsin D in human cells. (PubMed id 10924275)^{1, 9} Golabek A.A....Wisniewski K.E. (2000)
30. Interaction between Sdo1p and Btn1p in the Saccharomy ces cerevisiae model for Batten disease. (PubMed id 20015955)^{1, 9} Vitiello S.P....Pearce D.A. (2010)
31. Profound infantile neuroretinal dysfunction in a heterozygote for the CLN3 genetic defect. (PubMed id 15032383)^{1, 9} de los Reyes E....Mrak R.E. (2004)
32. A role in vacuolar arginine transport for yeast Btn1p and for human CLN3, the protein defective in Batten disease. (PubMed id 14660799)^{1, 9} Kim Y....Pearce D.A. (2003)
33. Motifs within the CLN3 protein: modulation of cell growth rates and apoptosis. (PubMed id 12189165)^{1, 9} Persaud-Sawin D.A....Boustany R.M. (2002)
34. Identification of a transactivation motif in the CLN3 protein. (PubMed id 11699874)^{1, 9} Leung K.Y....Mole S.E. (2001)
35. Protracted course of juvenile ceroid lipofuscinosis a ssociated with a novel CLN3 mutation (p.Y199X). (PubMed id 19489875)^{1, 9} Sarpong A....Schuelke M. (2009)
36. CLN3L, a novel protein related to the Batten disease protein, is overexpressed in Cln3-/- mice and in Batten disease. (PubMed id 15240430)^{1, 9} Narayan S.B.... Bennett M.J. (2004)
37. Loss of the Batten disease gene CLN3 prevents exit from the TGN of the mannose 6-phosphate receptor. (PubMed id 18817525)^{1, 9} Metcalf D.J....Cutler D.F. (2008)
38. Juvenile neuronal ceroid-lipofuscinosis (Batten disease): a brief review and update. (PubMed id 17896996)^{1, 9} Rakheja D....Bennett M.J. (2007)
39. A novel role of the Batten disease gene CLN3: association with BMP synthesis. (PubMed id 17482562)^{1, 9} Hobert J.A. and Dawson G. (2007)
40. Compound heterozygous genotype is associated with protracted juvenile neuronal ceroid lipofuscinosis. (PubMed id 9450775)^{1, 9} Wisniewski K.E....Wisniewski T.M. (1998)
41. Chromosome 16 microdeletion in a patient with juvenile neuronal ceroid lipofuscinosis (Batten disease). (PubMed id 7887420)^{1, 9} Taschner P.E....Breuning M.H. (1995)
42. Lysosome-related genes are regulated in the orbital fat of patients with graves' ophthalmopathy. (PubMed id 18552385)^{1, 9} Chen M.H....Chuang L.M. (2008)
43. Developmental impairments of select neurotransmitter systems in brains of Cln3(Deltaex7/8) knock-in mice, an animal model of juvenile neuronal ceroid lipofuscinosis. (PubMed id 18265413)^{1, 9} Herrmann P....Schliebs R. (2008)
44. Over-expression of CLN3P, the Batten disease protein, inhibits PANDER-induced apoptosis in neuroblastoma cells: further evidence that CLN3P has anti-apoptotic properties. (PubMed id 16515873)^{1, 9} Narayan S.B....Bennett M.J. (2006)
45. The Batten disease gene product (CLN3p) is a Golgi integral membrane protein. (PubMed id 9949212)^{1, 9} Kremmidiotis G....Callen D.F. (1999)
46. Proteome-wide identification of ubiquitylation sites b y conjugation of engineered lysine-less ubiquitin. (PubMed id 22053931)¹ Oshikawa K....Nakayama K.I. (2012)
47. A data set of human endogenous protein ubiquitination sites. (PubMed id 20972266)¹ Shi Y....Qin J. (2011)
48. Distinct early molecular responses to mutations causi ng vLINCL and JNCL presage ATP synthase subunit C accumulation in cerebellar ce lls. (PubMed id 21359198)¹ Cao Y....Cotman S.L. (2011)
49. The yeast Batten disease orthologue Btn1 controls end osome-Golgi retrograde transport via SNARE assembly. (PubMed id 21987636)¹ Kama R....Gerst J.E. (2011)
50. Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses. (PubMed id 21990111)² Kousi M.... Mole S.E. (2011)
51. A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)¹ Wagner S.A....Choudhary C. (2011)
52. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)¹ Kim W....Gygi S.P. (2011)
53. Global identification of modular cullin-RING ligase su bstrates. (PubMed id 21963094)¹ Emanuele M.J....Elledge S.J. (2011)
54. Screening for calcium channel modulators in CLN3 siRN A knock down SH-SY5Y neuroblastoma cells reveals a significant decrease of intr acellular calcium levels by selected L-type calcium channel blockers. (PubMed id 20933060)¹ An Haack K....Bennett M.J. (2011)
55. A knock-in reporter mouse model for Batten disease re veals predominant expression of Cln3 in visual, limbic and subcortical motor st ructures. (PubMed id 20875858)¹ Ding S.L....Davidson B.L. (2011)
56. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)¹ Danielsen J.M....Nielsen M.L. (2011)
57. System-wide temporal characterization of the proteome and phosphoproteome of human embryonic stem cell differentiation. (PubMed id 21406692)² Rigbolt K.T....Blagoev B. (2011)
58. Genotype does not predict severity of behavioural phe notype in juvenile neuronal ceroid lipofuscinosis (Batten disease). (PubMed id 20187884)¹ Adams H.R....Mink J.W. (2010)
59. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)² Olsen J.V....Mann M. (2010)
60. Genome-wide meta-analysis increases to 71 the number of confirmed Crohn's disease susceptibility loci. (PubMed id 21102463)¹ Franke A....Parkes M. (2010)
61. Network organization of the human autophagy system. (PubMed id 20562859)¹ Behrends C....Harper J.W. (2010)
62. Common variants at five new loci associated with earl y-onset inflammatory bowel disease. (PubMed id 19915574)¹ Imielinski M....McGovern D. (2009)
63. Ubiquitin-mediated proteolysis of HuR by heat shock. (PubMed id 19322201)¹ Abdelmohsen K....Gorospe M. (2009)
64. S. pombe btn1, the orthologue of the Batten disease g ene CLN3, is required for vacuole protein sorting of Cpy1p and Golgi exit of Vp s10p. (PubMed id 19299465)¹ Codlin S. and Mole S.E. (2009)
65. Quantitative phosphoproteomic analysis of T cell receptor signaling reveals system-wide modulation of protein-protein interactions. (PubMed id 19690332)² Mayya V.... Han D.K. (2009)
66. Kinase-selective enrichment enables quantitative phosphoproteomics of the kinome across the cell cycle. (PubMed id 18691976)² Daub H.... Mann M. (2008)
67. A quantitative atlas of mitotic phosphorylation. (PubMed id 18669648)² Dephoure N.... Gygi S.P. (2008)
68. Increased expression of lysosomal acid phosphatase in CLN3-defective cells and mouse brain tissue. (PubMed id 17868323)¹ Pohl S....Storch S. (2007)
69. Integral and associated lysosomal membrane proteins. (PubMed id 17897319)² Schroeder B.... Hasilik A. (2007)
70. Diversification of transcriptional modulation: large-scale identification and characterization of putative alternative promoters of human genes. (PubMed id 16344560)¹ Kimura K.... Sugano S. (2006)
71. Autophagy is disrupted in a knock-in mouse model of juvenile neuronal ceroid lipofuscinosis. (PubMed id 16714284)¹ Cao Y....Cotman S.L. (2006)
72. Defective lysosomal arginine transport in juvenile Batten disease. (PubMed id 16251196)¹ Ramirez-Montealegre D. and Pearce D.A. (2005)
73. AP-1 and AP-3 facilitate lysosomal targeting of Batten disease protein CLN3 via its dileucine motif. (PubMed id 15598649)¹ Kyttala A....Luzio J.P. (2005)
74. The sequence and analysis of duplication-rich human chromosome 16. (PubMed id 15616553)² Martin J.... Pennacchio L.A. (2004)
75. A galactosylceramide binding domain is involved in trafficking of CLN3 from Golgi to rafts via recycling endosomes. (PubMed id 15240864)¹ Persaud-Sawin D.A....Boustany R.M. (2004)
76. Large-scale characterization of HeLa cell nuclear phosphoproteins. (PubMed id 15302935)¹ Beausoleil S.A....Gygi S.P. (2004)
77. Characterization of Cln3p, the gene product responsible for juvenile neuronal ceroid lipofuscinosis, as a lysosomal integral membrane glycoprotein. (PubMed id 14622109)¹ Ezaki J....Kominami E. (2003)
78. Membrane topology of CLN3, the protein underlying Batten disease. (PubMed id 12706816)¹ Mao Q....Davidson B.L. (2003)
79. What are the requirements for lysosomal degradation of subunit c of mitochondrial ATPase? (PubMed id 12440525)¹ Kominami A.E. (2002)
80. Mutated genes in juvenile and variant late infantile neuronal ceroid lipofuscinoses encode lysosomal proteins. (PubMed id 12125809)¹ Vesa J. and Peltonen L. (2002)
81. Neuronal ceroid lipofuscinoses are connected at molecular level: interaction of CLN5 protein with CLN2 and CLN3. (PubMed id 12134079)¹ Vesa J....Peltonen L. (2002)
82. Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)¹ Strausberg R.L....Marra M.A. (2002)
83. Diverse transcriptional initiation revealed by fine, large-scale mapping of mRNA start sites. (PubMed id 11375929)¹ Suzuki Y....Sugano S. (2001)
84. Elevated lysosomal pH in neuronal ceroid lipofuscinoses (NCLs). (PubMed id 11722572)¹ Holopainen J.M....Jarvela I. (2001)
85. Batten's disease: clues to neuronal protein catabolism in lysosomes. (PubMed id 10740217)¹ Dawson G. and Cho S. (2000)
86. Defective intracellular transport of CLN3 is the molecular basis of Batten disease (JNCL) (PubMed id 10332042)¹ Jarvela I....Jalanko A. (1999)
87. A model for Batten disease protein CLN3: functional implications from homology and mutations. (PubMed id 8980123)¹ Janes R.W....Wallace B.A. (1996)
88. Rapid diagnostic test for the major mutation underlying Batten disease. (PubMed id 9004140)¹ Jarvela I....Syvanen A.C. (1996)
89. Genetic mapping of the Batten disease locus (CLN3) to the interval D16S288-D16S383 by analysis of haplotypes and allelic association. (PubMed id 7806237)⁴ Mitchison H.M....D'Arigo K. (1994)
90. Neuronal Ceroid-Lipofuscinoses (PubMed id 20301601)¹ Mole S.E. and Williams R.E. (1993)
91. Characterization of two new members of the pregnancy-specific beta 1- glycoprotein family from the myeloid cell line KG-1 and suggestion of two distinct classes of transcription unit. (PubMed id 2271648)¹ Barnett T.R.... Elting J.J. (1990)
92. CLN3 disease process: missense point mutations and protein depletion in vitro. (PubMed id 11589014)⁹ Golabek A.A....Wisniewski K.E. (2001)
93. Intracellular trafficking of CLN3, the protein underlying the childhood neurodegenerative disease, Batten disease. (PubMed id 14644441)⁹ Mao Q....Davidson B.L. (2003)
94. Localization and processing of CLN3, the protein associated to Batten disease: where is it and what does it do? (PubMed id 10658181)⁹ Pearce D.A. (2000)
95. Splicing variants in sheep CLN3, the gene underlying juvenile neuronal ceroid lipofuscinosis. (PubMed id 10356317)⁹ Oswald M.J....Damak S. (1999)
96. Batten disease gene, CLN3: linkage disequilibrium map ping in the Finnish population, and analysis of European haplotypes. (PubMed id 7887419)⁹ Mitchison H.M....JAorvelAo I.E. (1995)
97. Deletion of the Caenorhabditis elegans homologues of the CLN3 gene, involved in human juvenile neuronal ceroid lipofuscinosis, causes a mild progeric phenotype. (PubMed id 16435200)⁹ de Voer G....Taschner P.E. (2005)
98. Evidence for phosphorylation of CLN3 protein associated with Batten disease. (PubMed id 9878558)⁹ Michalewski M.P....Wisniewski K.E. (1998)
99. Analysis of CLN3-protein interactions using the yeast two-hybrid system. (PubMed id 11589015)⁹ Leung K.Y....Mole S.E. (2001)
100. Coding sequence and exon/intron organization of the canine CLN3 (Batten disease) gene and its exclusion as the locus for ceroid-lipofuscinosis in English setter dogs. (PubMed id 9590435)⁹ Shibuya H....Johnson G.S. (1998)
101. Refined localization of the Batten disease gene (CLN3 ) by haplotype and linkage disequilibrium mapping to D16S288-D16S383 and exclus ion from this region of a variant form of Batten disease with granular osmiophi lic deposits. (PubMed id 7668353)⁹ Mitchison H.M....Thompson A.D. (1995)
102. The fission yeast model for the lysosomal storage disorder Batten disease predicts disease severity caused by mutations in CLN3. (PubMed id 19132115)⁹ Haines R.L....Mole S.E. (2009)
103. Neural and extraneural expression of the neuronal ceroid lipofuscinoses genes CLN1, CLN2, and CLN3: functional implications for CLN3. (PubMed id 11001812)⁹ Chattopadhyay S. and Pearce D.A. (2000)
104. Full-field ERG in patients with Batten/Spielmeyer-Vogt disease caused by mutations in the CLN3 gene. (PubMed id 10916181)⁹ Eksandh L.B....Andreasson S. (2000)
105. Mouse gene knockout models for the CLN2 and CLN3 forms of ceroid lipofuscinosis. (PubMed id 11588979)⁹ Katz M.L. and Johnson G.S. (2001)
106. A mouse gene knockout model for juvenile ceroid-lipofuscinosis (Batten disease). (PubMed id 10440905)⁹ Katz M.L....Johnson G.S. (1999)
107. Structure of the CLN3 gene and predicted structure, location and function of CLN3 protein. (PubMed id 9151311)⁹ Mitchison H.M....Mole S.E. (1997)
108. [From gene to disease; from CLN1, CLN2 and CLN3 to neuronal ceroid lipofuscinosis] (PubMed id 15730038)⁹ Taschner P.E....van Diggelen O.P. (2005)
109. Targeted disruption of the Cln3 gene provides a mouse model for Batten disease. The Batten Mouse Model Consortium [corrected] (PubMed id 10527801)⁹ Mitchison H.M....Nussbaum R.L. (1999)
110. CLN3 defines a novel antiapoptotic pathway operative in neurodegeneration and mediated by ceramide. (PubMed id 10191118)⁹ Puranam K.L....Boustany R.M. (1999)
111. The transmembrane topology of Batten disease protein CLN3 determined by consensus computational prediction constrained by experimental data. (PubMed id 18314010)⁹ Nugent T....Jones D.T. (2008)
112. Clinicopathological and molecular characterization of neuronal ceroid lipofuscinosis in the Portuguese population. (PubMed id 12796825)⁹ Teixeira C....Ribeiro M.G. (2003)
113. Altered flurothyl seizure induction latency, phenotype, and subsequent mortality in a mouse model of juvenile neuronal ceroid lipofuscinosis/batten disease. (PubMed id 12366726)⁹ Kriscenski-Perry E....Pearce D.A. (2002)
114. Biochemistry of neuronal ceroid lipofuscinoses. (PubMed id 11332778)⁹ Junaid M.A. and Pullarkat R.K. (2001)
115. CLN-3 protein is expressed in the pancreatic somatostatin-secreting delta cells. (PubMed id 11589017)⁹ Boriack R.L. and Bennett M.J. (2001)
116. Action of BTN1, the yeast orthologue of the gene mutated in Batten disease. (PubMed id 10319861)⁹ Pearce D.A....Sherman F. (1999)
117. Analysis of intracellular distribution and trafficking of the CLN3 protein in fusion with the green fluorescent protein in vitro. (PubMed id 10191113)⁹ Kida E....Wisniewski K.E. (1999)
118. Atypical late infantile and juvenile forms of neuronal ceroid lipofuscinosis and their diagnostic difficulties. (PubMed id 9377079)⁹ Wisniewski K.E....Brown W.T. (1997)
119. Application of chromosome 16 markers in the differential diagnosis of neuronal ceroid-lipofuscinosis. (PubMed id 7668359)⁹ Taschner P.E....Breuning M.H. (1995)
120. A 30-year follow-up of a neuronal ceroid lipofuscinosis patient with mutations in CLN3 and protracted disease course. (PubMed id 19135632)⁹ Aberg L....Autti T. (2009)
121. Nitric oxide signaling is disrupted in the yeast model for Batten disease. (PubMed id 17475770)⁹ Osorio N.S....Rodrigues F. (2007)
122. Homogeneous PCR nucleobase quenching assays to detect four mutations that cause neuronal ceroid lipofuscinosis: T75P and R151X in CLN1, and IVS5-1G>C and R208X in CLN2. (PubMed id 16720047)⁹ Leman A.R....Rothberg P.G. (2006)
123. Cell death pathways in juvenile Batten disease. (PubMed id 16151633)⁹ Persaud-Sawin D.A. and Boustany R.M. (2005)
124. Juvenile neuronal ceroid lipofuscinosis (Batten disease) CLN3 mutation (Chrom 16p11.2) with different phenotypes in a sibling pair and low intensity in vivo autofluorescence. (PubMed id 15162299)⁹ Mantel I....Moore A.T. (2004)
125. CLN3P, the Batten disease protein, localizes to membrane lipid rafts (detergent-resistant membranes). (PubMed id 15094366)⁹ Rakheja D....Bennett M.J. (2004)
126. Homogeneous polymerase chain reaction nucleobase quen ching assay to detect the 1-kbp deletion in CLN3 that causes Batten disease. (PubMed id 15269304)⁹ Rothberg P.G....Pearce D.A. (2004)
127. The neuronal ceroid lipofuscinoses: mutations in different proteins result in similar disease. (PubMed id 12025857)⁹ Weimer J.M....Pearce D.A. (2002)
128. Flupirtine blocks apoptosis in batten patient lymphoblasts and in human postmitotic CLN3- and CLN2-deficient neurons. (PubMed id 11921051)⁹ Dhar S....Boustany R.M. (2002)
129. The neuronal ceroid-lipofuscinoses (Batten disease): a new class of lysosomal storage diseases. (PubMed id 10407785)⁹ Bennett M.J. and Hofmann S.L. (1999)
130. Strategy for mutation detection in CLN3: characterisation of two Finnish mutations. (PubMed id 9151312)⁹ Munroe P.B....Mole S.E. (1997)
131. Phenol sulfotransferases: candidate genes for Batten disease. (PubMed id 7668357)⁹ Dooley T.P....Mole S.E. (1995)
132. Novel interactions of CLN5 support molecular networki ng between Neuronal Ceroid Lipofuscinosis proteins. (PubMed id 19941651)⁹ Lyly A....KyttAolAo A. (2009)
133. Differentiation of primary human submandibular gland cells cultured on basement membrane extract. (PubMed id 18721074)⁹ Szlavik V....Vag J. (2008)
134. btn1 affects endocytosis, polarization of sterol-rich membrane domains and polarized growth in Schizosaccharomyces pombe. (PubMed id 18346214)⁹ Codlin S....Mole S.E. (2008)
135. The function of CLN3P, the Batten disease protein. (PubMed id 18688960)⁹ Rakheja D....Bennett M.J. (2008)
136. Attenuation of AMPA receptor activity improves motor skills in a mouse model of juvenile Batten disease. (PubMed id 17963751)⁹ Kovacs A.D. and Pearce D.A. (2008)
137. Analysis of NCL Proteins from an Evolutionary Standpoint. (PubMed id 19440452)⁹ Muzaffar N.E. and Pearce D.A. (2008)
138. Moving towards therapies for juvenile Batten disease? (PubMed id 18400221)⁹ Cooper J.D. (2008)
139. Neuronal ceroid lipofuscinosis: a common pathway? (PubMed id 17237713)⁹ Persaud-Sawin D.A....Boustany R.M. (2007)
140. Progress towards understanding disease mechanisms in small vertebrate models of neuronal ceroid lipofuscinosis. (PubMed id 17023146)⁹ Cooper J.D....Mitchison H.M. (2006)
141. Two novel CLN5 mutations in a Portuguese patient with vLINCL: insights into molecular mechanisms of CLN5 deficiency. (PubMed id 16814585)⁹ Bessa C.... Ribeiro M.G. (2006)
142. Selectively increased sensitivity of cerebellar granule cells to AMPA receptor-mediated excitotoxicity in a mouse model of Batten disease. (PubMed id 16483786)⁹ Kovacs A.D....Pearce D.A. (2006)
143. Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses. (PubMed id 15965709)⁹ Mole S.E....Goebel H.H. (2005)
144. CLN6, which is associated with a lysosomal storage disease, is an endoplasmic reticulum protein. (PubMed id 15265688)⁹ Mole S.E....Cutler D.F. (2004)
145. Spectrum of CLN6 mutations in variant late infantile neuronal ceroid lipofuscinosis. (PubMed id 12815591)⁹ Sharp J.D....Mole S.E. (2003)
146. An Australasian diagnostic service for the neuronal ceroid lipofuscinoses. (PubMed id 11588997)⁹ Muller V.J....Fietz M.J. (2001)
147. Neuronal ceroid lipofuscinoses: classification and diagnosis. (PubMed id 11332767)⁹ Wisniewski K.E....Zhong N. (2001)
148. Neuronal ceroid lipofuscinoses and possible pathogenic mechanism. (PubMed id 11001811)⁹ Zhong N. (2000)
149. Heterogeneity of late-infantile neuronal ceroid lipofuscinosis. (PubMed id 11339651)⁹ Zhong N.... Brown W.T. (2000)
150. Neuronal ceroid lipofuscinoses: pathological features of bioptic specimens from 28 patients. (PubMed id 11073230)⁹ Simonati A. and Rizzuto N. (2000)
151. Molecular diagnosis of and carrier screening for the neuronal ceroid lipofuscinoses. (PubMed id 11142754)⁹ Zhong N.A....Brown W.T. (2000)
152. Histopathologic and immunocytochemical analysis of the retina and ocular tissues in Batten disease. (PubMed id 10964839)⁹ Bensaoula T....Milam A.H. (2000)
153. A murine model for juvenile NCL: gene targeting of mouse Cln3. (PubMed id 10191119)⁹ Greene N.D....Mitchison H.M. (1999)
154. Reevaluation of neuronal ceroid lipofuscinoses: atypical juvenile onset may be the result of CLN2 mutations. (PubMed id 10191110)⁹ Wisniewski K.E....Zhong N. (1999)
155. Molecular genetics of the neuronal ceroid lipofuscinoses. (PubMed id 10446748)⁹ Mole S. and Gardiner M. (1999)
156. Genetic markers linked to neuronal ceroid lipofuscinosis in English setter dogs. (PubMed id 9800325)⁹ Lingaas F....Dolf G. (1998)
157. Studies of atypical JNCL suggest overlapping with other NCL forms. (PubMed id 9492089)⁹ Wisniewski K.E....Brown W.T. (1998)
158. Human cyclin K, a novel RNA polymerase II-associated cyclin possessing both carboxy-terminal domain kinase and Cdk-activating kinase activity. (PubMed id 9632813)⁹ Edwards M.C.... Elledge S.J. (1998)
159. Histone octamer function in vivo: mutations in the dimer-tetramer interfaces disrupt both gene activation and repression. (PubMed id 9171362)⁹ Santisteban M.S....Smith M.M. (1997)
160. Clinical and magnetic resonance imaging findings in Batten disease: analysis of the major mutation (1.02-kb deletion). (PubMed id 9392580)⁹ Jarvela I....Santavuori P. (1997)
161. Loci for classical and a variant late infantile neuronal ceroid lipofuscinosis map to chromosomes 11p15 and 15q21-23. (PubMed id 9097964)⁹ Sharp J.D....Williams R.E. (1997)
162. Rapid detection of the major deletion in the Batten disease gene CLN3 by allele specific PCR. (PubMed id 9391897)⁹ Taschner P.E....Breuning M.H. (1997)
163. [Neuronal ceroid lipofuscinosis. An unknown overload disease] (PubMed id 8692764)⁹ Echaniz-Laguna A....Warter J.M. (1996)
164. The clinical and genetic epidemiology of neuronal cer oid lipofuscinosis in Newfoundland. (PubMed id 18684116)⁹ Moore S.J....Parfrey P.S. (2008)
165. Batten disease: features to facilitate early diagnosi s. (PubMed id 16754648)⁹ Collins J....Adams G.G. (2006)
166. Sucrose-induced vacuolation results in increased expression of cholesterol biosynthesis and lysosomal genes. (PubMed id 14720509)⁹ Helip-Wooley A. and Thoene J.G. (2004)
167. Early changes in gene expression in two models of Batten disease. (PubMed id 12633880)⁹ Elshatory Y....Pearce D.A. (2003)
168. Advances in the genetics of progressive myoclonus epilepsy. (PubMed id 11579433)⁹ Delgado-Escueta A.V....Yamakawa K. (2001)
169. Northern epilepsy syndrome (NES, CLN8)--MRI and electrophysiological studies. (PubMed id 11588991)⁹ Lauronen L....Autti T. (2001)

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