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

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:

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

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.

Cite this article as:

Rodríguez-Arribas M., Pedro M. Bravo-San J., Gómez-Sánchez R., Yakhine-Diop M.S. S., Martínez-Chacón G., Uribe-Carretero E., Castro C.J. Pinheiro De D., Casado-Naranjo I., Munaín López de A., Niso-Santano M., Fuentes M. J. and González-Polo A. R., Pompe Disease and Autophagy: Partners in Crime, or Cause and Consequence?, Current Medicinal Chemistry 2016; 23 (21) . https://dx.doi.org/10.2174/1567201812666150122131046