Pompe Disease and Autophagy: Partners in Crime, or Cause and Consequence?Rodriguez-Arribas, M., Bravo-San Pedro, J. M., Gomez-Sanchez, R., Yakhine-Diop, S. M. S., Martinez-Chacon, G., Uribe-Carretero, E., Pinheiro De Castro, D. C. J., Casado-Naranjo, I., Lopez de Munain, A., Niso-Santano, M., Fuentes, J. M. & Gonzalez-Polo, R. A., 2016, In : CURRENT MEDICINAL CHEMISTRY. 23, 21, p. 2275-2285 11 p.
Research output: Contribution to journal › Review article › Academic › peer-review
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.
|Number of pages||11|
|Journal||CURRENT MEDICINAL CHEMISTRY|
|Publication status||Published - 2016|
- Autophagy, Glycogen synthase, LC3, Lysosomes, Pompe disease, Recombinant human GAA, ACID ALPHA-GLUCOSIDASE, ENZYME REPLACEMENT THERAPY, SKELETAL-MUSCLE, LATE-ONSET, MITOCHONDRIAL DYSFUNCTION, MONITORING AUTOPHAGY, OXIDATIVE STRESS, GENE-THERAPY, CELL-DEATH, SUPPRESSION