title: Pompe Disease and Autophagy: Partners in Crime, or Cause and Consequence?
abstract: 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.
authors.forename: M
authors.initials: M
authors.lastname: Rodríguez-Arribas
authors.forename: J M Bravo-San
authors.initials: JM
authors.lastname: Pedro
authors.forename: R
authors.initials: R
authors.lastname: Gómez-Sánchez
authors.forename: S M S
authors.initials: SM
authors.lastname: Yakhine-Diop
authors.forename: G
authors.initials: G
authors.lastname: Martínez-Chacón
authors.forename: E
authors.initials: E
authors.lastname: Uribe-Carretero
authors.forename: D C J Pinheiro
authors.initials: DC
authors.lastname: De Castro
authors.forename: I
authors.initials: I
authors.lastname: Casado-Naranjo
authors.forename: A
authors.initials: A
authors.lastname: López de Munaín
authors.forename: M
authors.initials: M
authors.lastname: Niso-Santano
authors.forename: J M
authors.initials: JM
authors.lastname: Fuentes
authors.affiliation: Centro de Investigación Biomédica en Red en Enfermedades Neurodegenerativas (CIBE-RNED). rosapolo@unex.es.
authors.forename: R A
authors.initials: RA
authors.lastname: González-Polo
mesh_terms: D000818:Animals; D001343:Autophagy; D004195:Disease Models, Animal; D056947:Enzyme Replacement Therapy; D006009:Glycogen Storage Disease Type II / Q000378:metabolism / Q000473:pathology* / Q000628:therapy; D006801:Humans; D008869:Microtubule-Associated Proteins / Q000378:metabolism; D008928:Mitochondria / Q000378:metabolism; D018482:Muscle, Skeletal / Q000378:metabolism; D000520:alpha-Glucosidases / Q000235:genetics / Q000378:metabolism
chemical_list: D008869:Microtubule-Associated Proteins; D000520:alpha-Glucosidases