| 1 | PFKL, PFKM, PFKP
|
| Differential expression of phosphofructokinase-1 isoforms correlates with the glycolytic efficiency of breast cancer cells.
|
| Zancan P, Sola-Penna M, Furtado CM, Da Silva D.
|
| Mol Genet Metab 100(4):372-8. doi: 10.1016/j.ymgme.2010.04.006. Epub 2010 Apr 18.
2010
|
| 2 | GSD7, PFKM
|
| Phosphofructo-1-kinase deficiency leads to a severe cardiac and hematological disorder in addition to skeletal muscle glycogenosis.
|
| García M, Pujol A, Ruzo A, Riu E, Ruberte J, Arbós A, Serafín A, Albella B, Felíu JE, Bosch F.
|
| PLoS Genet 5(8):e1000615. Epub 2009 Aug 21.PMID: 19696889 2009
|
| 3 | PFKM, PFKP
|
| Chimeric phosphofructokinases involving exchange of the N- and C-terminal halves of mammalian isozymes: implications for ligand binding sites.
|
| Martínez-Costa OH, Sánchez-Martínez C, Sánchez V, Aragón JJ.
|
| FEBS Lett 581(16):3033-8. Epub 2007 May 29.PMID: 17544406 2007
|
| 4 | PFKM
|
| Novel testis- and embryo-specific isoforms of the phosphofructokinase-1 muscle type gene.
|
| Yamada S, Nakajima H, Kuehn MR.
|
| Biochem Biophys Res Commun 316(2):580-7.PMID: 15020257 2004
|
| 5 | PFKM
|
| Deficiency of phosphofructo-1-kinase/muscle subtype in humans impairs insulin secretion and causes insulin resistance.
|
| Ristow M, Vorgerd M, Mohlig M, Schatz H, Pfeiffer A.
|
| J Clin Invest 100(11):2833-41. 1997
|
| 6 | GSD7, PFKM
|
| Late-onset muscle weakness in partial phosphofructokinase deficiency : a unique myopathy with vacuoles, abnormal mitochondria, and absence of the common exon 5/intron 5 junction point mutation.
|
| Sivakumar K, et al.
|
| Neurology 46 : 1337-1342. 1996
|
| 7 | GSD7, PFKM
|
| Glycogenosis type VII (Tarui disease) in a Swedish family : two novel mutations in muscle phosphofructokinase gene (PFK-M) resulting in intron retentions.
|
| Nichols RC, et al.
|
| Am J Hum Genet 59 : 59-65. 1996
|
| 8 | GSD7, PFKM
|
| Novel missense mutation (W686C) of the phosphofructokinase-M gene in a Japanese patient with a mild form of glycogenosis VII.
|
| Hamaguchi T, et al.
|
| Hum Mutat 8 : 273-275. 1996
|
| 9 | MLNR, CXCR3, PFKM
|
| Physical and genetic mapping of the muscle phosphofructokinase gene (PFKM) : reassignment to human chromosome 12q.
|
| Howard TD, et al.
|
| Genomics 34 : 122-127. 1996
|
| 10 | GSD7, PFKM
|
| 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.
|
| Vasconcelos O, et al.
|
| Proc Natl Acad Sci U S A 92 : 10322-10326. 1995
|
| 11 | GSD7, PFKM
|
| Mutations in muscle phosphofructokinase gene.
|
| Raben N, et al.
|
| Hum Mutat 6 : 1-6. 1995
|
| 12 | GSD7, PFKM
|
| Functional expression of human mutant phosphofructokinase in yeast : genetic defects in French Canadian and Swiss patients with phosphofructokinase deficiency.
|
| Raben N, et al.
|
| Am J Hum Genet 56 : 131-141. 1995
|
| 13 | GSD7, PFKM
|
| Identification of three novel mutations in non-Ashkenazi Italian patients with muscle phosphofructokinase deficiency.
|
| Tsujino S, et al.
|
| Am J Hum Genet 54 : 812-819. 1994
|
| 14 | GSD7, PFKM
|
| Common mutations in the phosphofructokinase-M gene in Ashkenazi Jewish patients with glycogenesis VII-and their population frequency.
|
| Sherman JB, et al.
|
| Am J Hum Genet 55 : 305-313. 1994
|
| 15 | GSD7, PFKM
|
| A 5' splice junction mutation leading to exon deletion in an ashkenazic Jewish family with phosphofructokinase deficiency (Tarui disease).
|
| Raben N, et al.
|
| J Biol Chem 268 : 4963-4967. 1993
|
| 16 | PFKM
|
| KpnI RFLP at the human muscle-type phosphofructokinase (PFKM) gene locus.
|
| Dionne FT, et al.
|
| Nucleic Acids Res 19 : 1720. 1991
|
| 17 | GSD7, PFKM
|
| Genetic defect in muscle phosphofructokinase deficiency. Abnormal splicing of the muscle phosphofructokinase gene due to a point mutation at the 5'-splice site.
|
| Nakajima H, et al.
|
| J Biol Chem 265 : 9392-9395. 1990
|
| 18 | PFKM
|
| An expressed phosphofructokinase gene (PFKX) maps to human chromosome 12 and mouse chromosome 15.
|
| Ashley PL, et al.
|
| (HGM9) Cytogenet Cell Genet 46 : 573. 1987
|
| 19 | PFKL, PFKM, PFKP
|
| Identification of novel phosphofructokinase loci in mouse and man.
|
| Ashley PL, et al.
|
| Am J Hum Genet 39 : A186. 1986
|
| 20 | GSD7, PFKM
|
| Heterogeneity of the molecular lesions in inherited phosphofructokinase deficiency.
|
| Vora S, et al.
|
| J Clin Invest 72 : 1995-2006. 1983
|
| 21 | GSD7, PFKM
|
| Phosphofructokinase deficiency in skeletal muscle : a new type of glycogenosis.
|
| Tarui S, et al.
|
| Biochem Biophys Res Commun 19 : 517-523. 1965
|