Please use this identifier to cite or link to this item: http://hdl.handle.net/2445/43264
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dc.contributor.authorNogales Gadea, Gisela-
dc.contributor.authorMormeneo, Emma-
dc.contributor.authorConsuegra García, Inés-
dc.contributor.authorRubio, Juan C.-
dc.contributor.authorOrozco, Anna-
dc.contributor.authorArenas, Joaquin-
dc.contributor.authorMartín, Miguel A.-
dc.contributor.authorLucia, Alejandro-
dc.contributor.authorGómez Foix, Anna Maria-
dc.contributor.authorMartí Seves, Ramon-
dc.contributor.authorAndreu, Antoni-
dc.date.accessioned2013-05-09T17:15:44Z-
dc.date.available2013-05-09T17:15:44Z-
dc.date.issued2010-10-
dc.identifier.issn1932-6203-
dc.identifier.urihttp://hdl.handle.net/2445/43264-
dc.description.abstractMutations 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.-
dc.format.extent11 p.-
dc.format.mimetypeapplication/pdf-
dc.language.isoeng-
dc.publisherPublic Library of Science (PLoS)-
dc.relation.isformatofReproducció del document publicat a: http://dx.doi.org/10.1371/journal.pone.0013164-
dc.relation.ispartofPLoS One, 2010, vol. 5, num. 10, p. e13164-
dc.relation.urihttp://dx.doi.org/10.1371/journal.pone.0013164-
dc.rightscc-by (c) Nogales Gadea, Gisela et al., 2010-
dc.rights.urihttp://creativecommons.org/licenses/by/3.0/es-
dc.subject.classificationTrastorns del metabolisme-
dc.subject.classificationGenètica molecular-
dc.subject.classificationFisiologia patològica-
dc.subject.classificationGlicogen-
dc.subject.otherDisorders of metabolism-
dc.subject.otherMolecular genetics-
dc.subject.otherPathological physiology-
dc.subject.otherGlycogen-
dc.titleExpression of Glycogen Phosphorylase Isoforms in Cultured Muscle from Patients with McArdle´s Disease Carrying the p.R771PfsX33 PYGM Mutation-
dc.typeinfo:eu-repo/semantics/article-
dc.typeinfo:eu-repo/semantics/publishedVersion-
dc.identifier.idgrec598581-
dc.date.updated2013-05-09T17:15:44Z-
dc.rights.accessRightsinfo:eu-repo/semantics/openAccess-
Appears in Collections:Articles publicats en revistes (Bioquímica i Biomedicina Molecular)

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