摘要
庞贝氏症、糖原贮积症II型(OMIM:232300)是一种溶酶体贮积症的一部分或全部的酸中α糖苷酶缺乏导致的,这可能会产生肌肉无力、步态异常,甚至呼吸衰竭死亡。在过去的十年中,自噬已被提出作为一种机制,它参与这种疾病的症状的严重程度,并作为一个潜在的治疗靶点,以减轻疾病的进展。本文综述了自噬与庞贝氏症之间的关系,包括什么样的信息是最近发现的,目前什么是还不清楚的。
关键词: 自噬,糖原合酶,LC3,溶酶体,庞贝氏症,重组人体GAA。
Current Medicinal Chemistry
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.
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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
DOI https://dx.doi.org/10.2174/1567201812666150122131046 |
Print ISSN 0929-8673 |
Publisher Name Bentham Science Publisher |
Online ISSN 1875-533X |
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