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Current Medicinal Chemistry


ISSN (Print): 0929-8673
ISSN (Online): 1875-533X

Review Article

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

Author(s): M. Rodríguez-Arribas, J. M. Bravo-San Pedro, R. Gómez-Sánchez, S. M.S. Yakhine-Diop, G. Martínez-Chacón, E. Uribe-Carretero, D. C.J. Pinheiro De Castro, I. Casado-Naranjo, A. López de Munaín, M. Niso-Santano, J. M. Fuentes and R. A. González-Polo

Volume 23 , Issue 21 , 2016

Page: [2275 - 2285] Pages: 11

DOI: 10.2174/1567201812666150122131046

Price: $65


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.

Keywords: Autophagy, Glycogen synthase, LC3, Lysosomes, Pompe disease, Recombinant human GAA.

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