Impaired autophagy contributes to muscle atrophy in glycogen storage disease type II patients (Articolo in rivista)

Type
Label
  • Impaired autophagy contributes to muscle atrophy in glycogen storage disease type II patients (Articolo in rivista) (literal)
Anno
  • 2012-01-01T00:00:00+01:00 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#doi
  • 10.4161/auto.21691 (literal)
Alternative label
  • Nascimbeni, Anna Chiara; Fanin, Marina; Masiero, Eva; Angelini, Corrado; Sandri, Marco (2012)
    Impaired autophagy contributes to muscle atrophy in glycogen storage disease type II patients
    in Autophagy
    (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#autori
  • Nascimbeni, Anna Chiara; Fanin, Marina; Masiero, Eva; Angelini, Corrado; Sandri, Marco (literal)
Pagina inizio
  • 1697 (literal)
Pagina fine
  • 1700 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#url
  • http://www.ncbi.nlm.nih.gov/pubmed/22940840 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroVolume
  • 8 (literal)
Rivista
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#pagineTotali
  • 4 (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#numeroFascicolo
  • 11 (literal)
Note
  • ISI Web of Science (WOS) (literal)
  • Scopu (literal)
Http://www.cnr.it/ontology/cnr/pubblicazioni.owl#affiliazioni
  • 1, 2, 4: Department of Neurosciences; University of Padova; Biomedical Campus \"Pietro d'Abano\"; Padova, Italy; 3: Dulbecco Telethon Institute at Venetian Institute of Molecular Medicine; Padova, Italy; 5: Dulbecco Telethon Institute at Venetian Institute of Molecular Medicine; Padova, Italy / Department of Biomedical Science; University of Padova; Italy / Institute of Neuroscience; Consiglio Nazionale delle Ricerche; Padova, Italy (literal)
Titolo
  • Impaired autophagy contributes to muscle atrophy in glycogen storage disease type II patients (literal)
Abstract
  • The autophagy-lysosome system is essential for muscle cell homeostasis and its dysfunction has been linked to muscle disorders that are typically distinguished by massive autophagic buildup. Among them, glycogen storage disease type II (GSDII) is characterized by the presence of large glycogen-filled lysosomes in the skeletal muscle, due to a defect in the lysosomal enzyme acid alpha-glucosidase (GAA). The accumulation of autophagosomes is believed to be detrimental for myofiber function. However, the role of autophagy in the pathogenesis of GSDII is still unclear. To address this issue we monitored autophagy in muscle biopsies and myotubes of early and late-onset GSDII patients at different time points of disease progression. Moreover we also analyzed muscles from patients treated with enzyme replacement therapy (ERT). Our data suggest that autophagy is a protective mechanism that is required for myofiber survival in late-onset forms of GSDII. Importantly, our findings suggest that a normal autophagy flux is important for a correct maturation of GAA and for the uptake of recombinant human GAA. In conclusion, autophagy failure plays an important role in GSDII disease progression, and the development of new drugs to restore the autophagic flux should be considered to improve ERT efficacy. (literal)
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