Literature DB >> 8530014

Human cDNA encoding the muscle isoform of the phosphorylase kinase gamma subunit (PHKG1).

M Wehner1, M W Kilimann.   

Abstract

Muscle glycogenosis caused by phosphorylase kinase (Phk) deficiency may lead to exercise intolerance, weakness and musculatur atrophy. The gene encoding the muscle isoform of the Phk gamma subunit (gamma M) is one of the candidate genes in which mutations responsible for this condition should be sought. Here, we report the cDNA sequence and the predicted primary structure of the human gamma M subunit.

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Year:  1995        PMID： 8530014     DOI： 10.1007/bf00197422

Source DB:  PubMed          Journal:  Hum Genet        ISSN： 0340-6717            Impact factor:   4.132


  20 in total

1.  cDNA cloning of a liver isoform of the phosphorylase kinase alpha subunit and mapping of the gene to Xp22.2-p22.1, the region of human X-linked liver glycogenosis.

Authors:  J J Davidson; T Ozçelik; C Hamacher; P J Willems; U Francke; M W Kilimann
Journal:  Proc Natl Acad Sci U S A       Date:  1992-03-15       Impact factor: 11.205

2.  Molecular cloning and enzymatic analysis of the rat homolog of "PhK-gamma T," an isoform of phosphorylase kinase catalytic subunit.

Authors:  M B Calalb; D T Fox; S K Hanks
Journal:  J Biol Chem       Date:  1992-01-25       Impact factor: 5.157

3.  Isoform diversity of phosphorylase kinase alpha and beta subunits generated by alternative RNA splicing.

Authors:  B Harmann; N F Zander; M W Kilimann
Journal:  J Biol Chem       Date:  1991-08-25       Impact factor: 5.157

4.  Fatal arthrogryposis with respiratory insufficiency: a possible case of muscle phosphorylase b-kinase deficiency.

Authors:  Y S Shin; E Plöchl; T Podskarbi; W Muss; P Pilz; R Puttinger
Journal:  J Inherit Metab Dis       Date:  1994       Impact factor: 4.982

5.  Isolation and characterization of transcribed sequences from a chromosome 16 hn-cDNA library and the physical mapping of genes and transcribed sequences using a high-resolution somatic cell panel of human chromosome 16.

Authors:  S A Whitmore; S Apostolou; S Lane; J K Nancarrow; H A Phillips; R I Richards; G R Sutherland; D F Callen
Journal:  Genomics       Date:  1994-03-15       Impact factor: 5.736

6.  Phosphorylase kinase deficiency in I-strain mice is associated with a frameshift mutation in the alpha subunit muscle isoform.

Authors:  A Schneider; J J Davidson; A Wüllrich; M W Kilimann
Journal:  Nat Genet       Date:  1993-12       Impact factor: 38.330

7.  Myopathy due to glycogen storage disease: pathological and biochemical studies in relation to glycogenosome formation.

Authors:  T Iwamasa; S Fukuda; S Tokumitsu; N Ninomiya; I Matsuda; M Osame
Journal:  Exp Mol Pathol       Date:  1983-06       Impact factor: 3.362

8.  Infantile glycogen storage myopathy in a girl with phosphorylase kinase deficiency.

Authors:  Y Ohtani; I Matsuda; T Iwamasa; H Tamari; Y Origuchi; T Miike
Journal:  Neurology       Date:  1982-08       Impact factor: 9.910

9.  Assignment of human genes for phosphorylase kinase subunits alpha (PHKA) to Xq12-q13 and beta (PHKB) to 16q12-q13.

Authors:  U Francke; B T Darras; N F Zander; M W Kilimann
Journal:  Am J Hum Genet       Date:  1989-08       Impact factor: 11.025

10.  The gamma phosphorylase kinase gene, Phkg, maps to mouse chromosome 5 near Gus.

Authors:  A J Maichele; J S Chamberlain
Journal:  Mamm Genome       Date:  1994-01       Impact factor: 2.957
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  1 in total

1.  Complete genomic structure and mutational spectrum of PHKA2 in patients with x-linked liver glycogenosis type I and II.

Authors:  J Hendrickx; P Lee; J P Keating; D Carton; I B Sardharwalla; M Tuchman; C Baussan; P J Willems
Journal:  Am J Hum Genet       Date:  1999-06       Impact factor: 11.025
  1 in total

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