庞贝氏症和自噬：自杀中，是伙伴，或者原因和结果？

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

Volume: 23 Issue: 21

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

Affiliation:

关键词: 自噬，糖原合酶，LC3，溶酶体，庞贝氏症，重组人体GAA。

摘要: 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.

Cite this article as:

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 , Pompe Disease and Autophagy: Partners in Crime, or Cause and Consequence?, Current Medicinal Chemistry 2016; 23 (21) . https://dx.doi.org/10.2174/1567201812666150122131046