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Title: Expression of Glycogen Phosphorylase Isoforms in Cultured Muscle from Patients with McArdle´s Disease Carrying the p.R771PfsX33 PYGM Mutation
Author: Nogales Gadea, Gisela
Mormeneo, Emma
Consuegra García, Inés
Rubio, Juan C.
Orozco, Anna
Arenas, Joaquin
Martín, Miguel A.
Lucia, Alejandro
Gómez Foix, Anna Maria
Martí Seves, Ramon
Andreu, Antoni
Keywords: Trastorns del metabolisme
Genètica molecular
Fisiologia patològica
Disorders of metabolism
Molecular genetics
Pathological physiology
Issue Date: Oct-2010
Publisher: Public Library of Science (PLoS)
Abstract: Mutations in the PYGM gene encoding skeletal muscle glycogen phosphorylase (GP) cause a metabolic disorder known as McArdle's disease. Previous studies in muscle biopsies and cultured muscle cells from McArdle patients have shown that PYGM mutations abolish GP activity in skeletal muscle, but that the enzyme activity reappears when muscle cells are in culture. The identification of the GP isoenzyme that accounts for this activity remains controversial.
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It is part of: PLoS One, 2010, vol. 5, num. 10, p. e13164
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ISSN: 1932-6203
Appears in Collections:Articles publicats en revistes (Bioquímica i Biomedicina Molecular)

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