Literature DB >> 588100

Muscle-type phosphorylase activity present in muscle cells cultured from three patients with myophosphorylase deficiency.

M C Meienhofer, V Askanas, D Proux-Daegelen, J C Dreyfus, W K Engel.   

Abstract

Skeletal muscle fibers cultured from three patients whose mature fibers are deficient in glycogen myophosphorylase (EC 2.4.1.1) were shown to become rather mature, to have no excessive glycogen accumulation, and to develop signifcant myophosphorylase activity. That activity was characterized electrophoretically and immunologically and shown to be muscle phosphorylase rather than a genetically different type, thereby demonstrating true "rejuvenation" in culture of an enzyme genetically programmed ultimately to be deficient.

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Year:  1977        PMID: 588100     DOI: 10.1001/archneur.1977.00500240067013

Source DB:  PubMed          Journal:  Arch Neurol        ISSN: 0003-9942


  8 in total

1.  The pathogenomics of McArdle disease--genes, enzymes, models, and therapeutic implications.

Authors:  Gisela Nogales-Gadea; Alfredo Santalla; Astrid Brull; Noemi de Luna; Alejandro Lucia; Tomàs Pinós
Journal:  J Inherit Metab Dis       Date:  2014-07-23       Impact factor: 4.982

2.  Carnitine transport in cultured muscle cells and skin fibroblasts from patients with primary systemic carnitine deficiency.

Authors:  C J Rebouche; A G Engel
Journal:  In Vitro       Date:  1982-05

3.  McArdle's disease. The unsolved mystery of the reappearing enzyme.

Authors:  A Martinuzzi; G Schievano; A Nascimbeni; M Fanin
Journal:  Am J Pathol       Date:  1999-06       Impact factor: 4.307

4.  Expression of glycogen phosphorylase isoforms in cultured muscle from patients with McArdle's disease carrying the p.R771PfsX33 PYGM mutation.

Authors:  Gisela Nogales-Gadea; Emma Mormeneo; Inés García-Consuegra; Juan C Rubio; Anna Orozco; Joaquin Arenas; Miguel A Martín; Alejandro Lucia; Anna M Gómez-Foix; Ramon Martí; Antoni L Andreu
Journal:  PLoS One       Date:  2010-10-05       Impact factor: 3.240

5.  Expression of muscle-gene-specific isozymes of phosphorylase and creatine kinase in innervated cultured human muscle.

Authors:  A Martinuzzi; V Askanas; T Kobayashi; W K Engel; S Di Mauro
Journal:  J Cell Biol       Date:  1986-10       Impact factor: 10.539

6.  Sodium valproate increases the brain isoform of glycogen phosphorylase: looking for a compensation mechanism in McArdle disease using a mouse primary skeletal-muscle culture in vitro.

Authors:  Noemí de Luna; Astrid Brull; Josep Maria Guiu; Alejandro Lucia; Miguel Angel Martin; Joaquin Arenas; Ramon Martí; Antoni L Andreu; Tomàs Pinós
Journal:  Dis Model Mech       Date:  2015-03-11       Impact factor: 5.758

Review 7.  Preclinical Research in McArdle Disease: A Review of Research Models and Therapeutic Strategies.

Authors:  Mónica Villarreal-Salazar; Astrid Brull; Gisela Nogales-Gadea; Antoni L Andreu; Miguel A Martín; Joaquín Arenas; Alfredo Santalla; Alejandro Lucia; John Vissing; Thomas O Krag; Tomàs Pinós
Journal:  Genes (Basel)       Date:  2021-12-28       Impact factor: 4.096

8.  Expression of muscle-type phosphorylase in innervated and aneural cultured muscle of patients with myophosphorylase deficiency.

Authors:  A Martinuzzi; L Vergani; R Carrozzo; M Fanin; L Bartoloni; C Angelini; V Askanas; W K Engel
Journal:  J Clin Invest       Date:  1993-10       Impact factor: 14.808

  8 in total

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