Literature DB >> 2822475

Cloning of human muscle phosphofructokinase cDNA.

H Nakajima1, T Noguchi, T Yamasaki, N Kono, T Tanaka, S Tarui.   

Abstract

Three overlapping cDNA clones for human muscle phosphofructokinase (HMPFK) covering the complete coding sequence were isolated. The sequence included a poly(A) tail, a 399 bp 3'-untranslated region, a 2337 bp coding region for 779 amino acid residues and a part of the 5'-untranslated region. Homologies between HMPFK and rabbit muscle phosphofructokinase (RMPFK) were 96% of the amino acids and 89% of the nucleotides in the coding region. Like RMPFK, HMPFK also possessed the internal homology between C- and N-halves in its primary structure. Cloning of HMPFK cDNA will help to identify the molecular defect in patients with glycogenosis type VII (HMPFK deficiency).

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Year:  1987        PMID： 2822475     DOI： 10.1016/0014-5793(87)80519-7

Source DB:  PubMed          Journal:  FEBS Lett        ISSN： 0014-5793            Impact factor:   4.124


  11 in total

1.  Acute regulation by insulin of phosphatidylinositol-3-kinase, Rad, Glut 4, and lipoprotein lipase mRNA levels in human muscle.

Authors:  M Laville; D Auboeuf; Y Khalfallah; N Vega; J P Riou; H Vidal
Journal:  J Clin Invest       Date:  1996-07-01       Impact factor: 14.808

2.  Glycogenosis type VII (Tarui disease) in a Swedish family: two novel mutations in muscle phosphofructokinase gene (PFK-M) resulting in intron retentions.

Authors:  R C Nichols; O Rudolphi; B Ek; R Exelbert; P H Plotz; N Raben
Journal:  Am J Hum Genet       Date:  1996-07       Impact factor: 11.025

3.  Identification of ATP-dependent phosphofructokinase as a regulatory step in the glycolytic pathway of the actinomycete Streptomyces coelicolor A3(2).

Authors:  A M Alves; G J Euverink; M J Bibb; L Dijkhuizen
Journal:  Appl Environ Microbiol       Date:  1997-03       Impact factor: 4.792

4.  Novel clustering of Sp1 transcription factor binding sites at the transcription initiation site of the human muscle phosphofructokinase P1 promoter.

Authors:  J L Johnson; A McLachlan
Journal:  Nucleic Acids Res       Date:  1994-11-25       Impact factor: 16.971

5.  Expression of mouse phosphofructokinase-M gene alternative transcripts: evidence for the conserved two-promoter system.

Authors:  H Nakajima; T Noguchi; T Hamaguchi; K Tomita; T Hanafusa; N Kono; T Tanaka; M Kuwajima; Y Matsuzawa
Journal:  Biochem J       Date:  1994-10-15       Impact factor: 3.857

6.  Common mutations in the phosphofructokinase-M gene in Ashkenazi Jewish patients with glycogenesis VII--and their population frequency.

Authors:  J B Sherman; N Raben; C Nicastri; Z Argov; H Nakajima; E M Adams; C M Eng; T M Cowan; P H Plotz
Journal:  Am J Hum Genet       Date:  1994-08       Impact factor: 11.025

7.  Characterization and phylogeny of the pfp gene of Amycolatopsis methanolica encoding PPi-dependent phosphofructokinase.

Authors:  A M Alves; W G Meijer; J W Vrijbloed; L Dijkhuizen
Journal:  J Bacteriol       Date:  1996-01       Impact factor: 3.490

8.  Functional expression of human mutant phosphofructokinase in yeast: genetic defects in French Canadian and Swiss patients with phosphofructokinase deficiency.

Authors:  N Raben; R Exelbert; R Spiegel; J B Sherman; H Nakajima; P Plotz; J Heinisch
Journal:  Am J Hum Genet       Date:  1995-01       Impact factor: 11.025

9.  Identification of three novel mutations in non-Ashkenazi Italian patients with muscle phosphofructokinase deficiency.

Authors:  S Tsujino; S Servidei; P Tonin; S Shanske; G Azan; S DiMauro
Journal:  Am J Hum Genet       Date:  1994-05       Impact factor: 11.025

10.  Expression of phosphofructokinase in skeletal muscle is influenced by genetic variation and associated with insulin sensitivity.

Authors:  Sarah Keildson; Joao Fadista; Claes Ladenvall; Åsa K Hedman; Targ Elgzyri; Kerrin S Small; Elin Grundberg; Alexandra C Nica; Daniel Glass; J Brent Richards; Amy Barrett; James Nisbet; Hou-Feng Zheng; Tina Rönn; Kristoffer Ström; Karl-Fredrik Eriksson; Inga Prokopenko; Timothy D Spector; Emmanouil T Dermitzakis; Panos Deloukas; Mark I McCarthy; Johan Rung; Leif Groop; Paul W Franks; Cecilia M Lindgren; Ola Hansson
Journal:  Diabetes       Date:  2013-12-04       Impact factor: 9.461
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