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http://hdl.handle.net/2445/43264
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DC Field | Value | Language |
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dc.contributor.author | Nogales Gadea, Gisela | - |
dc.contributor.author | Mormeneo, Emma | - |
dc.contributor.author | Consuegra García, Inés | - |
dc.contributor.author | Rubio, Juan C. | - |
dc.contributor.author | Orozco, Anna | - |
dc.contributor.author | Arenas, Joaquín | - |
dc.contributor.author | Martín, Miguel A. | - |
dc.contributor.author | Lucia, Alejandro | - |
dc.contributor.author | Gómez Foix, Anna Maria | - |
dc.contributor.author | Martí Seves, Ramon | - |
dc.contributor.author | Andreu, Antoni | - |
dc.date.accessioned | 2013-05-09T17:15:44Z | - |
dc.date.available | 2013-05-09T17:15:44Z | - |
dc.date.issued | 2010-10 | - |
dc.identifier.issn | 1932-6203 | - |
dc.identifier.uri | http://hdl.handle.net/2445/43264 | - |
dc.description.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. | - |
dc.format.extent | 11 p. | - |
dc.format.mimetype | application/pdf | - |
dc.language.iso | eng | - |
dc.publisher | Public Library of Science (PLoS) | - |
dc.relation.isformatof | Reproducció del document publicat a: http://dx.doi.org/10.1371/journal.pone.0013164 | - |
dc.relation.ispartof | PLoS One, 2010, vol. 5, num. 10, p. e13164 | - |
dc.relation.uri | http://dx.doi.org/10.1371/journal.pone.0013164 | - |
dc.rights | cc-by (c) Nogales Gadea, Gisela et al., 2010 | - |
dc.rights.uri | http://creativecommons.org/licenses/by/3.0/es | - |
dc.source | Articles publicats en revistes (Bioquímica i Biomedicina Molecular) | - |
dc.subject.classification | Trastorns del metabolisme | - |
dc.subject.classification | Genètica molecular | - |
dc.subject.classification | Fisiologia patològica | - |
dc.subject.classification | Glicogen | - |
dc.subject.other | Disorders of metabolism | - |
dc.subject.other | Molecular genetics | - |
dc.subject.other | Pathological physiology | - |
dc.subject.other | Glycogen | - |
dc.title | Expression of Glycogen Phosphorylase Isoforms in Cultured Muscle from Patients with McArdle´s Disease Carrying the p.R771PfsX33 PYGM Mutation | - |
dc.type | info:eu-repo/semantics/article | - |
dc.type | info:eu-repo/semantics/publishedVersion | - |
dc.identifier.idgrec | 598581 | - |
dc.date.updated | 2013-05-09T17:15:44Z | - |
dc.rights.accessRights | info:eu-repo/semantics/openAccess | - |
dc.identifier.pmid | 20957198 | - |
Appears in Collections: | Articles publicats en revistes (Bioquímica i Biomedicina Molecular) |
Files in This Item:
File | Description | Size | Format | |
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598581.pdf | 3.34 MB | Adobe PDF | View/Open |
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