Please use this identifier to cite or link to this item: http://hdl.handle.net/2445/43264
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 L.
Keywords: Trastorns del metabolisme
Genètica molecular
Fisiologia patològica
Glicogen
Disorders of metabolism
Molecular genetics
Pathological physiology
Glycogen
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.
Note: Reproducció del document publicat a: http://dx.doi.org/10.1371/journal.pone.0013164
It is part of: PLoS One, 2010, vol. 5, num. 10, p. e13164
Related resource: http://dx.doi.org/10.1371/journal.pone.0013164
URI: http://hdl.handle.net/2445/43264
ISSN: 1932-6203
Appears in Collections:Articles publicats en revistes (Bioquímica i Biomedicina Molecular)

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