Pompe Disease and Autophagy: Partners in Crime, or Cause and Consequence?

M. Rodriguez-Arribas, J. M. Bravo-San Pedro, R. Gomez-Sanchez, S. M. S. Yakhine-Diop, G. Martinez-Chacon, E. Uribe-Carretero, D. C. J. Pinheiro De Castro, I. Casado-Naranjo, A. Lopez de Munain, M. Niso-Santano, J. M. Fuentes, R. A. Gonzalez-Polo

    Onderzoeksoutputpeer review

    7 Citaten (Scopus)


    Pompe disease or glycogen storage disease type II (OMIM: 232300) is a lysosomal storage disorder resulting from a partial or total lack of acid alphaglucosidase, which may produce muscle weakness, gait abnormalities, or even death by respiratory failure. In the last decade, autophagy has been proposed as a mechanism involved in the severity of symptoms related to this disorder and as a potential therapeutic target to alleviate disease progression. This review summarizes the relationship between autophagy and Pompe disease, including what information has been recently discovered and what remains unclear.

    Originele taal-2English
    Pagina's (van-tot)2275-2285
    Aantal pagina's11
    Nummer van het tijdschrift21
    StatusPublished - 2016


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