PFKM

Phosphofructokinase, muscle, also known as PFKM, is a human gene.cite web | title = Entrez Gene: PFKM phosphofructokinase, muscle| url = http://www.ncbi.nlm.nih.gov/sites/entrez?Db=gene&Cmd=ShowDetailView&TermToSearch=5213| accessdate = ]

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References

Further reading

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*cite journal | author=Raben N, Sherman JB |title=Mutations in muscle phosphofructokinase gene. |journal=Hum. Mutat. |volume=6 |issue= 1 |pages= 1–6 |year= 1995 |pmid= 7550225 |doi= 10.1002/humu.1380060102
*cite journal | author=Kahn A, Etiemble J, Meienhofer MC, Bovin P |title=Erythrocyte phosphofructokinase deficiency associated with an unstable variant of muscle phosphofructokinase. |journal=Clin. Chim. Acta |volume=61 |issue= 3 |pages= 415–9 |year= 1975 |pmid= 125160 |doi=
*cite journal | author=Zhao ZZ, Malencik DA, Anderson SR |title=Protein-induced inactivation and phosphorylation of rabbit muscle phosphofructokinase. |journal=Biochemistry |volume=30 |issue= 8 |pages= 2204–16 |year= 1991 |pmid= 1825608 |doi=
*cite journal | author=Yamasaki T, Nakajima H, Kono N, "et al." |title=Structure of the entire human muscle phosphofructokinase-encoding gene: a two-promoter system. |journal=Gene |volume=104 |issue= 2 |pages= 277–82 |year= 1991 |pmid= 1833270 |doi=
*cite journal | author=Sharma PM, Reddy GR, Babior BM, McLachlan A |title=Alternative splicing of the transcript encoding the human muscle isoenzyme of phosphofructokinase. |journal=J. Biol. Chem. |volume=265 |issue= 16 |pages= 9006–10 |year= 1990 |pmid= 2140567 |doi=
*cite journal | author=Nakajima H, Kono N, Yamasaki T, "et al." |title=Genetic defect in muscle phosphofructokinase deficiency. Abnormal splicing of the muscle phosphofructokinase gene due to a point mutation at the 5'-splice site. |journal=J. Biol. Chem. |volume=265 |issue= 16 |pages= 9392–5 |year= 1990 |pmid= 2140573 |doi=
*cite journal | author=Valdez BC, Chen Z, Sosa MG, "et al." |title=Human 6-phosphofructo-1-kinase gene has an additional intron upstream of start codon. |journal=Gene |volume=76 |issue= 1 |pages= 167–9 |year= 1989 |pmid= 2526044 |doi=
*cite journal | author=Sharma PM, Reddy GR, Vora S, "et al." |title=Cloning and expression of a human muscle phosphofructokinase cDNA. |journal=Gene |volume=77 |issue= 1 |pages= 177–83 |year= 1989 |pmid= 2526045 |doi=
*cite journal | author=Nakajima H, Noguchi T, Yamasaki T, "et al." |title=Cloning of human muscle phosphofructokinase cDNA. |journal=FEBS Lett. |volume=223 |issue= 1 |pages= 113–6 |year= 1987 |pmid= 2822475 |doi=
*cite journal | author=Vora S, Seaman C, Durham S, Piomelli S |title=Isozymes of human phosphofructokinase: identification and subunit structural characterization of a new system. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=77 |issue= 1 |pages= 62–6 |year= 1980 |pmid= 6444721 |doi=
*cite journal | author=Kahn A, Weil D, Cottreau D, Dreyfus JC |title=Muscle phosphofructokinase deficiency in man: expression of the defect in blood cells and cultured fibroblasts. |journal=Ann. Hum. Genet. |volume=45 |issue= Pt 1 |pages= 5–14 |year= 1982 |pmid= 6459054 |doi=
*cite journal | author=Vasconcelos O, Sivakumar K, Dalakas MC, "et al." |title=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. |journal=Proc. Natl. Acad. Sci. U.S.A. |volume=92 |issue= 22 |pages= 10322–6 |year= 1995 |pmid= 7479776 |doi=
*cite journal | author=Tsujino S, Servidei S, Tonin P, "et al." |title=Identification of three novel mutations in non-Ashkenazi Italian patients with muscle phosphofructokinase deficiency. |journal=Am. J. Hum. Genet. |volume=54 |issue= 5 |pages= 812–9 |year= 1994 |pmid= 7513946 |doi=
*cite journal | author=Raben N, Exelbert R, Spiegel R, "et al." |title=Functional expression of human mutant phosphofructokinase in yeast: genetic defects in French Canadian and Swiss patients with phosphofructokinase deficiency. |journal=Am. J. Hum. Genet. |volume=56 |issue= 1 |pages= 131–41 |year= 1995 |pmid= 7825568 |doi=
*cite journal | author=Raben N, Sherman J, Miller F, "et al." |title=A 5' splice junction mutation leading to exon deletion in an Ashkenazic Jewish family with phosphofructokinase deficiency (Tarui disease). |journal=J. Biol. Chem. |volume=268 |issue= 7 |pages= 4963–7 |year= 1993 |pmid= 8444874 |doi=
*cite journal | author=Howard TD, Akots G, Bowden DW |title=Physical and genetic mapping of the muscle phosphofructokinase gene (PFKM): reassignment to human chromosome 12q. |journal=Genomics |volume=34 |issue= 1 |pages= 122–7 |year= 1996 |pmid= 8661033 |doi= 10.1006/geno.1996.0250
*cite journal | author=Hamaguchi T, Nakajima H, Noguchi T, "et al." |title=Novel missense mutation (W686C) of the phosphofructokinase-M gene in a Japanese patient with a mild form of glycogenosis VII. |journal=Hum. Mutat. |volume=8 |issue= 3 |pages= 273–5 |year= 1997 |pmid= 8889589 |doi= 10.1002/(SICI)1098-1004(1996)8:3<273::AID-HUMU13>3.0.CO;2-#
*cite journal | author=Scherer PE, Lisanti MP |title=Association of phosphofructokinase-M with caveolin-3 in differentiated skeletal myotubes. Dynamic regulation by extracellular glucose and intracellular metabolites. |journal=J. Biol. Chem. |volume=272 |issue= 33 |pages= 20698–705 |year= 1997 |pmid= 9252390 |doi=
*cite journal | author=Ristow M, Vorgerd M, Möhlig M, "et al." |title=Deficiency of phosphofructo-1-kinase/muscle subtype in humans impairs insulin secretion and causes insulin resistance. |journal=J. Clin. Invest. |volume=100 |issue= 11 |pages= 2833–41 |year= 1998 |pmid= 9389749 |doi=

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