PFKM Gene

Aliases
for PFKM gene

Previous GC identifers: GC12P048525 GC12P048412 GC12P048229 GC12P046802 GC12P046788 GC12P046785 GC12P045531

Summaries
for PFKM gene

Genomic Views
for PFKM gene

RefSeq DNA sequence:

NC_000012.11  NC_018923.1  NT_029419.12  

SwitchGear Promoter luciferase reporter plasmids (see all 3): PFKM promoter sequence

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

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


GeneLoc information about chromosome 12         GeneLoc Exon Structure

GeneLoc location for GC12P048501:  view genomic region     (about GC identifiers)

Proteins
for PFKM gene

Explore the universe of human proteins at neXtProt for PFKM: NX_P08237

Post-translational modifications:

	Browse Purified and Recombinant Proteins at EMD Millipore
	Browse R&D Systems for human recombinant proteins
	Browse recombinant and purified proteins available from Enzo Life Sciences
	OriGene Purified Protein: PFKM OriGene Protein Over-expression Lysate: PFKM OriGene Custom Protein Services for PFKM
	GenScript Custom Purified and Recombinant Proteins Services for PFKM
	Novus Biologicals PFKM Proteins Novus Biologicals PFKM Lysates
	Browse Sino Biological Recombinant Proteins
	ProSpec Recombinant Protein for PFKM
	Uscn Proteins for PFKM

Gene Ontology (GO): 4 cellular component terms (GO ID links to tree view):    About this table

	EMD Millipore Mono- and Polyclonal Antibodies for the study of PFKM
	R&D Systems Antibodies for PFKM (Muscle Phosphofructokinase/PFKM)
	OriGene Antibodies: PFKM OriGene Custom Antibody Services for PFKM
	GenScript Custom Superior Antibodies Services for PFKM
	Novus Biologicals PFKM Antibodies
	Abcam antibodies for PFKM
	Uscn Antibodies for PFKM
	ThermoFisher Antibodies for PFKM

	Browse Kits and Assays available from EMD Millipore
	OriGene Custom Immunoassay Development Browse OriGene Fluorogenic Cell Assay Kits
	Browse R&D Systems for biochemical assays
	GenScript Custom Assay Services for PFKM
	Browse Enzo Life Sciences for kits & assays
	Uscn ELISAs and CLIAs for PFKM

Protein Domains /
Families
for PFKM gene

ProtoNet protein and cluster: P08237

Function
for PFKM gene

     Gene Ontology (GO): 5/11 molecular function terms (GO ID links to tree view) (see all 11):    About this table

(inferred from 2 alleles) (MGI details for Pfkm)

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

miRNA Products:		OriGene 3'-UTR Clone: PFKM Browse MicroRNA Expression Plasmids
		QIAGEN Custom miScript Target Protector blocks miRNA-binding site of human, mouse, rat PFKM
		8/24 QIAGEN miScript miRNA Assays for microRNAs that regulate PFKM (see all 24):
		hsa-miR-320a hsa-miR-128 hsa-miR-3133 hsa-miR-3916 hsa-miR-3125 hsa-miR-320e hsa-miR-591 hsa-miR-542-3p
		SwitchGear 3'UTR luciferase reporter plasmid: PFKM 3' UTR sequence

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for PFKM (see all 7) OriGene shRNA RFP: PFKM OriGene siRNA: PFKM
		QIAGEN FlexiTube/FlexiPlate siRNA for gene silencing in human, mouse, rat PFKM
		Sirion Biotech Custom design and validation of potent shRNA sequences against PFKM

Gene Editing Products:			DNA2.0 Custom Protein Engineering Service for PFKM
			Sirion Biotech Customized adenovirus for overexpression of PFKM  Sirion Biotech Customized adenovirus for potent knockdown of PFKM

Clone Products:		Browse Clones for the Expression of Recombinant Proteins Available from EMD Millipore
		OriGene Myc/DDK tagged cDNA clones in CMV expression vector in human, mouse, rat for PFKM (see all 8) OriGene untagged cDNA clones in CMV expression vector in human, mouse, rat for PFKM (see all 4) OriGene custom cloning services - gene synthesis, subcloning, mutagenesis, variant library, vector shuttling
		GenScript: all cDNA clones in your preferred vector (see all 4): PFKM (NM_001166686)
		Browse Sino Biological Human cDNA Clones
		DNA2.0 Custom Codon Optimized Gene Synthesis Service for PFKM
		Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat PFKM

Cell Line Products:		GenScript Custom overexpressing Cell Line Services for PFKM
		Search LifeMap BioReagents cell lines for PFKM
		Sirion Biotech Customized stable knockdown cell line services for PFKM  Sirion Biotech Customized inducible knockdown cell line services for PFKM Sirion Biotech Customized stable overexpressing cell line services for PFKM Sirion Biotech Customized inducible overexpressing cell line services for PFKM

In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PFKM

Pathways & Interactions
for PFKM gene

	Super-pathway	contained gene-specific pathways
1	Glycolysis and gluconeogenesis (short map)	Glycolysis and gluconeogenesis (short map) 1.00 Glycolysis and Gluconeogenesis 0.60 Glycolysis and gluconeogenesis (short map) 0.97 Glycolysis / Gluconeogenesis 0.41
2	Glucose metabolism	Glucose metabolism 1.00 Glycolysis 0.44
3	Metabolism	Metabolism 1.00 Metabolic pathways 0.38
4	AMPK Enzyme Complex Pathway	AMPK Enzyme Complex Pathway 1.00
5	Akt Signaling	Akt Signaling 1.00

1 EMD Millipore Pathway for PFKM

Glycolysis and gluconeogenesis (short map)

2 Downloadable PowerPoint Slides of QIAGEN Pathway Central Maps for PFKM

	AMPK Enzyme Complex Pathway
	Akt Signaling

1 GeneGo (Thomson Reuters) Pathway for PFKM

Glycolysis and gluconeogenesis (short map)

4 BioSystems Pathways for PFKM

	Glycolysis and Gluconeogenesis
	Insulin Signaling
	glycolysis I
	Validated targets of C-MYC transcriptional activation

4        Reactome Pathways for PFKM

	Metabolism of carbohydrates
	Metabolism
	Glucose metabolism
	Glycolysis

5         Kegg Pathways  (Kegg details for PFKM)

	Glycolysis / Gluconeogenesis
	Pentose phosphate pathway
	Fructose and mannose metabolism
	Galactose metabolism
	Metabolic pathways

PFKM for pathways           About GeneDecksing

Interactions:

    SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for PFKM

STRING Interaction Network Preview (showing 5 interactants - click image to see 25)

5/791 Interacting proteins for PFKM (P08237^{1, 2, 3} ENSP00000352842⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 791)

Gene Ontology (GO): 5/11 biological process terms (GO ID links to tree view) (see all 11):    About this table

Drugs & Compounds
for PFKM gene

Transcripts
for PFKM gene

Expression
for PFKM gene

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

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

SOURCE GeneReport for Unigene cluster: Hs.75160
    SABiosciences Custom PCR Arrays for PFKM

Primer Products:		OriGene genome-wide validated SYBR primer pairs in human, mouse, rat for PFKM Browse OriGene validated miRNA SYBR primer pairs
		SABiosciences RT2 qPCR Primer Assay in human, mouse, rat PFKM
		QIAGEN QuantiTect SYBR Green Assays in human, mouse, rat PFKM
		QIAGEN QuantiFast Probe-based Assays in human, mouse, rat PFKM

In Situ Assay Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for PFKM

Orthologs
for PFKM gene

Paralogs
for PFKM gene

Paralogs for PFKM gene

PFKP²  PFKL²  

11 SIMAP similar genes for PFKM using alignment to 23 protein entries:     K6PF_HUMAN (see all proteins):

DKFZp779O048    PKP2    PFKP    PFK-P    DKFZp686L2097    GART

DKFZp686G1648    PS1TP6    PFKL    DKFZp666K083    PHACTR1

PFKM for paralogs           About GeneDecksing

Genomic Variants
for PFKM gene

10/765 NCBI SNPs in PFKM are shown (see all 765)     About this table

Genomic Data					Transcription Related Data				Allele Frequencies
SNP ID	Valid	Clinical significance	Chr 12 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd	--	--	--	-1st2nd3rd	--	--	-1st2nd3rd	-1st2nd3rd	-1st2nd3rd
rs1219181931,2	C	pathogenic	48524176(+)	GGTTCA/C/G/T          AGTTG	16	Q P R L	mis1		0	--	--	--	--
rs1455948571,2		--	48497678(+)	TGTCTA/GGGGCT	5	--	us2k1 int1		0	--	--	--	--
rs558200561,2	C,F	--	48497737(+)	ACACCA/TGTAAT	5	--	int1 us2k1		4		NA WA CSA	7
rs1454193201,2		--	48497742(+)	TGTAAC/TCCCAG	5	--	int1 us2k1		0	--	--	--	--
rs1380118321,2		--	48497772(+)	GGGCAA/GATCAC	5	--	int1 us2k1		0	--	--	--	--
rs1891392631,2		--	48497830(+)	CTCTAC/GGAAAA	5	--	int1 us2k1		0	--	--	--	--
rs1813114911,2		--	48497918(+)	GAACCC/TGGGAG	5	--	int1 us2k1		0	--	--	--	--
rs717479471,2	C	--	48498018(+)	TATAT-/AGAGAGA	5	--	int1 us2k1		0	--	--	--	--
rs582809061,2	C	--	48498019(+)	ATATAT/GAGAGA	5	--	us2k1 int1		2		WA CSA	4
rs1853814511,2		--	48498066(+)	GGGAGA/GGAGAG	5	--	us2k1 int1		0	--	--	--	--

HapMap Linkage Disequilibrium report for PFKM (48498922 - 48540187 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 2 variations for PFKM
     2 CNVs: 30600 3888
Human Gene Mutation Database (HGMD): PFKM

SABiosciences Cancer Mutation PCR Assays

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

DNA2.0 Custom Variant and Variant Library Synthesis for PFKM

Disorders / Diseases
for PFKM gene

20/24 diseases for PFKM

9 Novoseek disease relationships for PFKM gene    About this table

Publications
for PFKM gene

PubMed articles for PFKM gene, integrated from 9 sources (see all 120) (see top 10): (articles sorted by number of sources associating them with PFKM)

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

1. Identification of three novel mutations in non-Ashkenazi Italian patients with muscle phosphofructokinase deficiency. (PubMed id 7513946)^{1, 2, 9} Tsujino S.... DiMauro S. (1994)
2. Functional expression of human mutant phosphofructokinase in yeast: genetic defects in French Canadian and Swiss patients with phosphofructokinase deficiency. (PubMed id 7825568)^{1, 2, 9} Raben N....Heinisch J.J. (1995)
3. Mutations in muscle phosphofructokinase gene. (PubMed id 7550225)^{1, 2, 9} Raben N. and Sherman J.B. (1995)
4. Structure of the entire human muscle phosphofructokinase-encoding gene: a two-promoter system. (PubMed id 1833270)^{1, 2, 9} Yamasaki T.... Tarui S. (1991)
5. Alternative splicing of the transcript encoding the human muscle isoenzyme of phosphofructokinase. (PubMed id 2140567)^{1, 2, 9} Sharma P.M.... McLachlan A. (1990)
6. 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)
7. Novel missense mutation (W686C) of the phosphofructokinase-M gene in a Japanese patient with a mild form of glycogenosis VII. (PubMed id 8889589)^{1, 2} Hamaguchi T.... Matsuzawa Y. (1996)
8. Cloning and expression of a human muscle phosphofructokinase cDNA. (PubMed id 2526045)^{1, 2} Sharma P.M.... McLachlan A. (1989)
9. Human 6-phosphofructo-1-kinase gene has an additional intron upstream of start codon. (PubMed id 2526044)^{1, 2} Valdez B.C.... Chang S.H. (1989)
10. Cloning of human muscle phosphofructokinase cDNA. (PubMed id 2822475)^{1, 2} Nakajima H.... Tarui S. (1987)
11. Interaction of neuronal nitric-oxide synthase and phosphofructokinase-M. (PubMed id 10187848)^{1, 9} Firestein B.L. and Bredt D.S. (1999)
12. Physical and genetic mapping of the muscle phosphofructokinase gene (PFKM): reassignment to human chromosome 12q. (PubMed id 8661033)^{1, 9} Howard T.D....Bowden D.W. (1996)
13. Novel testis- and embryo-specific isoforms of the phosphofructokinase-1 muscle type gene. (PubMed id 15020257)^{1, 9} Yamada S....Kuehn M.R. (2004)
14. Nonsense mutation in the phosphofructokinase muscle subunit gene associated with retention of intron 10 in one of the isolated transcripts in Ashkenazi Jewish patients with Tarui disease. (PubMed id 7479776)^{1, 9} Vasconcelos O.... Goldfarb L.G. (1995)
15. Genetic defect in muscle phosphofructokinase deficiency. Abnormal splicing of the muscle phosphofructokinase gene due to a point mutation at the 5'-splice site. (PubMed id 2140573)^{1, 9} Nakajima H.... Tarui S. (1990)
16. Combined defects of muscle phosphofructokinase and AMP deaminase in a child with myoglobinuria. (PubMed id 9443500)^{1, 9} Bruno C....DiMauro S. (1998)
17. A 5' splice junction mutation leading to exon deletion in an Ashkenazic Jewish family with phosphofructokinase deficiency (Tarui disease). (PubMed id 8444874)^{1, 9} Raben N....Plotz P. (1993)
18. A census of human soluble protein complexes. (PubMed id 22939629)¹ Havugimana P.C....Emili A. (2012)
19. A high-throughput approach for measuring temporal chan ges in the interactome. (PubMed id 22863883)¹ Kristensen A.R....Foster L.J. (2012)
20. Functional linkage of adenine nucleotide binding sites in mammalian muscle 6-phosphofructokinase. (PubMed id 22474333)¹ Bruser A....Schoneberg T. (2012)
21. Clinical features and new molecular findings in muscle phosphofructokinase deficiency (GSD type VII). (PubMed id 22133655)¹ Musumeci O....Toscano A. (2012)
22. Initial characterization of the human central proteome. (PubMed id 21269460)² Burkard T.R.... Colinge J. (2011)
23. Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)¹ Kim W....Gygi S.P. (2011)
24. Posttranslational modification of 6-phosphofructo-1-k inase as an important feature of cancer metabolism. (PubMed id 21573193)¹ A merc A....LegiA!a M. (2011)
25. Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)¹ Danielsen J.M....Nielsen M.L. (2011)
26. Evolution of allosteric citrate binding sites on 6-ph osphofructo-1-kinase. (PubMed id 21124851)¹ Usenik A. and LegiA!a M. (2010)
27. Physiogenomic analysis of statin-treated patients: do main-specific counter effects within the ACACB gene on low-density lipoprotein cholesterol? (PubMed id 20602615)¹ RuaA+o G....Wu A.H. (2010)
28. Differential expression of phosphofructokinase-1 isof orms correlates with the glycolytic efficiency of breast cancer cells. (PubMed id 20483646)¹ Zancan P....Da Silva D. (2010)
29. Proliferating cell nuclear antigen in the cytoplasm i nteracts with components of glycolysis and cancer. (PubMed id 20849852)¹ Naryzhny S.N. and Lee H. (2010)
30. Dynamics of cullin-RING ubiquitin ligase network revea led by systematic quantitative proteomics. (PubMed id 21145461)¹ Bennett E.J....Harper J.W. (2010)
31. Personalized smoking cessation: interactions between nicotine dose, dependence and quit-success genotype score. (PubMed id 20379614)¹ Rose J.E....Uhl G.R. (2010)
32. Quantitative phosphoproteomics reveals widespread full phosphorylation site occupancy during mitosis. (PubMed id 20068231)² Olsen J.V....Mann M. (2010)
33. Investigation of genetic susceptibility factors for h uman longevity - A targeted nonsynonymous SNP study. (PubMed id 20800603)¹ Flachsbart F....Nebel A. (2010)
34. Proteomic analysis reveals Hrs ubiquitin-interacting motif-mediated ubiquitin signaling in multiple cellular processes. (PubMed id 19019082)¹ Pridgeon J.W....Chin L.S. (2009)
35. Prefrontal cortex shotgun proteome analysis reveals altered calcium homeostasis and immune system imbalance in schizophrenia. (PubMed id 19165527)¹ Martins-de-Souza D....Turck C.W. (2009)
36. Direct binding of CoREST1 to SUMO-2/3 contributes to gene-specific repression by the LSD1/CoREST1/HDAC complex. (PubMed id 19394292)¹ Ouyang J....Gill G. (2009)
37. Physiogenomic comparison of edema and BMI in patients receiving rosiglitazone or pioglitazone. (PubMed id 18996102)¹ RuaA+o G....Hanks S. (2009)
38. Quantitative analysis of global ubiquitination in HeLa cells by mass spectrometry. (PubMed id 18781797)¹ Meierhofer D.... Kaiser P. (2008)
39. Toward a confocal subcellular atlas of the human proteome. (PubMed id 18029348)¹ Barbe L....Andersson-Svahn H. (2008)
40. Protein interaction data set highlighted with human Ras-MAPK/PI3K signaling pathways. (PubMed id 18624398)¹ Wang J....He F. (2008)
41. Chimeric phosphofructokinases involving exchange of the N- and C-terminal halves of mammalian isozymes: implications for ligand binding sites. (PubMed id 17544406)¹ Martinez-Costa O.H....Aragon J.J. (2007)
42. Broad spectrum identification of SUMO substrates in m elanoma cells. (PubMed id 17549794)¹ Ganesan A.K....White M.A. (2007)
43. The finished DNA sequence of human chromosome 12. (PubMed id 16541075)² Scherer S.E.... Gibbs R.A. (2006)
44. 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)
45. Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)² Ota T.... Sugano S. (2004)
46. Proteomic identification of brain proteins that interact with dynein light chain LC8. (PubMed id 14760703)¹ Navarro-Lerida I....Rodriguez-Crespo I. (2004)
47. The a-subunit of the V-type H+-ATPase interacts with phosphofructokinase-1 in humans. (PubMed id 12649290)¹ Su Y....Karet F.E. (2003)
48. Subcellular targeting of metabolic enzymes to titin in heart muscle may be mediated by DRAL/FHL-2. (PubMed id 12432079)¹ Lange S.... Ehler E. (2002)
49. 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)
50. Deficiency of phosphofructo-1-kinase/muscle subtype in humans impairs insulin secretion and causes insulin resistance. (PubMed id 9389749)¹ Ristow M....Pfeiffer A. (1997)
51. Association of phosphofructokinase-M with caveolin-3 in differentiated skeletal myotubes. Dynamic regulation by extracellular glucose and intracellular metabolites. (PubMed id 9252390)¹ Scherer P.E. and Lisanti M.P. (1997)
52. Normalization and subtraction: two approaches to facilitate gene discovery. (PubMed id 8889548)¹ Bonaldo M.F.... Soares M.B. (1996)
53. Isozyme analysis of human polymorphonuclear leukocyte phosphofructokinase from insulin resistant individuals. (PubMed id 8780720)¹ Durante P....Ryder E. (1996)
54. Muscle phosphofructokinase deficiency in man: expression of the defect in blood cells and cultured fibroblasts. (PubMed id 6459054)¹ Kahn A....Dreyfus J.C. (1981)
55. The molecular mechanism of the inherited phosphofructokinase deficiency associated with hemolysis and myopathy. (PubMed id 6444532)¹ Vora S....Piomelli S. (1980)
56. Isozymes of human phosphofructokinase: identification and subunit structural characterization of a new system. (PubMed id 6444721)¹ Vora S....Piomelli S. (1980)
57. Phosphofructokinase (PFK) isozymes in man. I. Studies of adult human tissues. (PubMed id 156693)¹ Kahn A....Dreyfus J.C. (1979)
58. Erythrocyte phosphofructokinase deficiency associated with an unstable variant of muscle phosphofructokinase. (PubMed id 125160)¹ Kahn A....Bovin P. (1975)
59. Characterization of expression of phosphofructokinase isoforms in isolated rat pancreatic islets and purified beta cells and cloning and expression of the rat phosphofructokinase-A isoform. (PubMed id 8764833)⁹ Ma Z....Turk J. (1996)
60. Phosphofructokinase muscle-specific isoform requires caveolin-3 expression for plasma membrane recruitment and caveolar targeting: implications for the pathogenesis of caveolin-related muscle diseases. (PubMed id 14633633)⁹ Sotgia F....Lisanti M.P. (2003)
61. Mapping of the Na+, K(+)-ATPase subunit alpha 2 (ATP1A2) and muscle phosphofructokinase (PFKM) genes in pig by somatic cell hybrid analysis. (PubMed id 10050286)⁹ Fontanesi L....Russo V. (1999)
62. Sequence analysis of mouse muscle-type phosphofructokinase gene introns 10 and 11 with special reference to the exon skipping. (PubMed id 17564308)⁹ Yamasaki T....Noguchi T. (2004)
63. Glucose-induced exertional fatigue in muscle phosphofructokinase deficiency. (PubMed id 1824792)⁹ Haller R.G. and Lewis S.F. (1991)
64. Tissue specificity in expression and alternative RNA splicing of human phosphofructokinase-M and -L genes. (PubMed id 2148476)⁹ Nakajima H....Tarui S. (1990)
65. Muscle phosphofructokinase deficiency with neonatal seizures and nonprogressive course. (PubMed id 17608317)⁹ Al-Hassnan Z.N....Al-Dhalaan H. (2007)
66. Two types of phosphofructokinase-1 differentially regulate the glycolytic pathway in insulin-stimulated chicken skeletal muscle. (PubMed id 16413217)⁹ Seki Y....Akiba Y. (2006)
67. Nuclear localization and chromatin targets of p21-activated kinase 1. (PubMed id 15749698)⁹ Singh R.R....Kumar R. (2005)
68. No spontaneous second wind in muscle phosphofructokinase deficiency. (PubMed id 14718702)⁹ Haller R.G. and Vissing J. (2004)
69. Glycogenosis type VII (Tarui disease) in a Swedish family: two novel mutations in muscle phosphofructokinase gene (PFK-M) resulting in intron retentions. (PubMed id 8659544)⁹ Nichols R.C....Raben N. (1996)
70. A new variant of muscle phosphofructokinase deficiency in a Japanese case with abnormal RNA splicing. (PubMed id 7518679)⁹ Hamaguchi T....Matsuzawa Y. (1994)
71. KpnI RFLP at the human muscle-type phosphofructokinas e (PFKM) gene locus. (PubMed id 1674138)⁹ Dionne F.T....Bouchard C. (1991)
72. Genomic organization, 5'flanking region and tissue-specific expression of mouse phosphofructokinase C gene. (PubMed id 11137296)⁹ Gunasekera D. and Kemp R.G. (2000)
73. Improvement of hemolysis in muscle phosphofructokinase deficiency by restriction of exercise. (PubMed id 8785459)⁹ Toyoda H....Kono N. (1996)
74. Paradoxically enhanced glucose production during exercise in humans with blocked glycolysis caused by muscle phosphofructokinase deficiency. (PubMed id 8797477)⁹ Vissing J....Haller R.G. (1996)
75. Phosphofructokinase deficiency: recent advances in mo lecular biology. (PubMed id 7603524)⁹ Nakajima H....Tarui S. (1995)
76. A new variant case of muscle phosphofructokinase deficiency, coexisting with gastric ulcer, gouty arthritis, and increased hemolysis. (PubMed id 7603526)⁹ Nakagawa C....Tarui S. (1995)
77. Syntenic assignment of human chromosome 1 homologous loci in the bovine. (PubMed id 8001974)⁹ Threadgill D.S....Womack J.E. (1994)
78. Muscle phosphofructokinase deficiency in a myopathic child with severe mental retardation and aplasia of cerebellar vermis. (PubMed id 1394261)⁹ Pastoris O....Bianchi E. (1992)
79. Abnormal oxidative metabolism and O2 transport in muscle phosphofructokinase deficiency. (PubMed id 1826293)⁹ Lewis S.F....Haller R.G. (1991)
80. Regulation of muscle phosphofructokinase by physiolog ical concentrations of bisphosphorylated hexoses: effect of alkalinization. (PubMed id 2145837)⁹ AndrAcs V....CussA^ R. (1990)
81. Expression of phosphofructokinase in Neisseria mening itidis. (PubMed id 19797358)⁹ Baart G.J....Martens D.E. (2010)
82. Transcriptional adaptations of lipid metabolism in tibialis anterior muscle of endurance-trained athletes. (PubMed id 14565968)⁹ Schmitt B....Hoppeler H. (2003)
83. Modulation of polyglutamine-induced cell death by genes identified by expression profiling. (PubMed id 12217956)⁹ Kita H....Kato K. (2002)
84. [Glycogenosis type VII (glycogen storage disease type VII, human muscle-phosphofructokinase deficiency, Tarui's disease)] (PubMed id 11596390)⁹ Yamasaki T. and Nakajima H. (2001)
85. Other erythrocyte enzyme deficiencies associated with non-haematological symptoms: phosphoglycerate kinase and phosphofructokinase deficiency. (PubMed id 10916683)⁹ Fujii H. and Miwa S. (2000)
86. Quantitative characterization of homo- and heteroassociations of muscle phosphofructokinase with aldolase. (PubMed id 11004548)⁹ Rais B....Cascante M. (2000)
87. Muscle phosphofructokinase deficiency (Tarui's disease): report of a case. (PubMed id 10365541)⁹ Lin H.C....Shen Y.Z. (1999)
88. Impaired aerobic glycolysis in muscle phosphofructokinase deficiency results in biphasic post-exercise phosphocreatine recovery in 31P magnetic resonance spectroscopy. (PubMed id 9829278)⁹ Grehl T....Zange J. (1998)
89. Muscle phosphofructokinase deficiency. (PubMed id 9305371)⁹ Massa R....Bernardi G. (1997)
90. Muscle phosphofructokinase deficiency in two generations. (PubMed id 8880699)⁹ Vorgerd M....Malin J.P. (1996)
91. Specific characteristics of phosphofructokinase-microtubule interaction. (PubMed id 8635590)⁹ Vertessy B.G....Ovadi J. (1996)
92. A cDNA encoding canine muscle-type phosphofructokinas e. (PubMed id 8654960)⁹ Smith B.F....Giger U. (1996)
93. Various classes of mutations in patients with phosphofructokinase deficiency (Tarui's disease). (PubMed id 7603525)⁹ Raben N....Plotz P. (1995)
94. Cloning and characterization of the human muscle phosphofructokinase gene. (PubMed id 1388024)⁹ Vaisanen P.A....McLachlan A. (1992)
95. Abnormal high-energy phosphate metabolism in human muscle phosphofructokinase deficiency. (PubMed id 1827789)⁹ Bertocci L.A....Nunnally R.L. (1991)
96. A genetic defect in muscle phosphofructokinase deficiency, a typical clinical entity presenting myogenic hyperuricemia. (PubMed id 1838230)⁹ Nakajima H....Noguchi T. (1991)
97. Vanadate promotes photooxidative cleavage and inactivation of muscle phosphofructokinase. (PubMed id 2146958)⁹ Signorini M. and Bergamini C.M. (1990)
98. Subunit interactions and composition of the fructose 6-phosphate catalytic site and the fructose 2,6-bisphosphate allosteric site of mammalian phosphofructokinase. (PubMed id 19218242)⁹ Ferreras C....AragA^n J.J. (2009)
99. Extraction and detection of mRNA from horsehair. (PubMed id 16757896)⁹ Sato T....Sakai T. (2006)
100. [Rapid prenatal detection of Down syndrome by homologous gene quantitative PCR] (PubMed id 15793789)⁹ Wang Q....Sun K. (2005)
101. Free Mg2+ concentration in the calf muscle of glycogen phosphorylase and phosphofructokinase deficiency patients assessed in different metabolic conditions by 31P MRS. (PubMed id 15938748)⁹ Malucelli E....Iotti S. (2005)
102. [Rapid diagnosis of 21 trisomy syndrome by fluorescen ce quantitative polymerase chain reaction] (PubMed id 15300645)⁹ Jing C.X....Lan D. (2004)
103. Molecular cloning of equine muscle-type phosphofructo kinase cDNA. (PubMed id 12808221)⁹ Sato T....Sakai T. (2003)
104. Metabolic adaptation of the fetal and postnatal ovine heart: regulatory role of hypoxia-inducible factors and nuclear respiratory factor-1. (PubMed id 12149506)⁹ Nau P.N....Scholz T.D. (2002)
105. Phosphoglycerate kinase deficiency in two brothers with McArdle-like clinical symptoms. (PubMed id 10809925)⁹ Aasly J....Bronstad G. (2000)
106. Coordinate induction of energy gene expression in tissues of mitochondrial disease patients. (PubMed id 10438462)⁹ Heddi A....Wallace D.C. (1999)
107. Sympathetic activation in exercise is not dependent on muscle acidosis. Direct evidence from studies in metabolic myopathies. (PubMed id 9541495)⁹ Vissing J....Haller R.G. (1998)
108. Rapid detection of trisomy 21 by homologous gene quan titative PCR (HGQ-PCR). (PubMed id 9050924)⁹ Lee H.H....Ng H.T. (1997)
109. Are metabolic oscillations responsible for normal oscillatory insulin secretion? (PubMed id 9287034)⁹ Tornheim K. (1997)
110. Molecular basis of erythroenzymopathies associated with hereditary hemolytic anemia: tabulation of mutant enzymes. (PubMed id 8579052)⁹ Miwa S. and Fujii H. (1996)
111. Red cell enzymopathies as a model of inborn errors of metabolism. (PubMed id 8629088)⁹ Miwa S....Fujii H. (1995)
112. Myogenic hyperuricemia: what can we learn from metabolic myopathies? (PubMed id 7603532)⁹ Mineo I. and Tarui S. (1995)
113. Glycolytic defects in muscle: aspects of collaboratio n between basic science and clinical medicine. (PubMed id 7603522)⁹ Tarui S. (1995)
114. Novel clustering of Sp1 transcription factor binding sites at the transcription initiation site of the human muscle phosphofructokinase P1 promoter. (PubMed id 7800504)⁹ Johnson J.L. and McLachlan A. (1994)
115. Expression of mouse phosphofructokinase-M gene alternative transcripts: evidence for the conserved two-promoter system. (PubMed id 7980403)⁹ Nakajima H....Matsuzawa Y. (1994)

External Searches for PFKM gene

Genome Databases showing PFKM gene

Other Databases showing PFKM gene

Specialized Databases showing PFKM gene

Products
for PFKM gene