Citations for
1GSD7, 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
2PFKM, 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
3PFKM
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
4PFKM
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
5GSD7, 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
6GSD7, 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
7GSD7, 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
8MLNR, 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
9GSD7, 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
10GSD7, PFKM
Mutations in muscle phosphofructokinase gene.
Raben N, et al.
Hum Mutat 6 : 1-6. 1995
11GSD7, 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
12GSD7, 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
13GSD7, 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
14GSD7, 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
15PFKM
KpnI RFLP at the human muscle-type phosphofructokinase (PFKM) gene locus.
Dionne FT, et al.
Nucleic Acids Res 19 : 1720. 1991
16GSD7, 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
17PFKM
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
18PFKL, PFKM, PFKP
Identification of novel phosphofructokinase loci in mouse and man.
Ashley PL, et al.
Am J Hum Genet 39 : A186. 1986
19GSD7, PFKM
Heterogeneity of the molecular lesions in inherited phosphofructokinase deficiency.
Vora S, et al.
J Clin Invest 72 : 1995-2006. 1983
20GSD7, PFKM
Phosphofructokinase deficiency in skeletal muscle : a new type of glycogenosis.
Tarui S, et al.
Biochem Biophys Res Commun 19 : 517-523. 1965