1. Pompe Disease and Autophagy: Partners in Crime, or Cause and Consequence?
- Author
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J. M. Bravo-San Pedro, Rosa A. González-Polo, José M. Fuentes, A. Lopez de Munain, I. Casado-Naranjo, Sokhna M S Yakhine-Diop, Rubén Gómez-Sánchez, Elisabet Uribe-Carretero, D. C. J. Pinheiro De Castro, Mario Rodríguez-Arribas, Guadalupe Martínez-Chacón, and Mireia Niso-Santano
- Subjects
0301 basic medicine ,medicine.medical_specialty ,Programmed cell death ,MITOCHONDRIAL DYSFUNCTION ,LATE-ONSET ,Disease ,Biology ,Bioinformatics ,ENZYME REPLACEMENT THERAPY ,Biochemistry ,03 medical and health sciences ,Internal medicine ,Drug Discovery ,Glycogen storage disease type II ,Autophagy ,LC3 ,medicine ,Animals ,Humans ,OXIDATIVE STRESS ,Muscle, Skeletal ,SUPPRESSION ,Pharmacology ,MONITORING AUTOPHAGY ,Glycogen Storage Disease Type II ,Organic Chemistry ,GENE-THERAPY ,Pompe disease ,Muscle weakness ,alpha-Glucosidases ,Enzyme replacement therapy ,medicine.disease ,Mitochondria ,Glycogen synthase ,Disease Models, Animal ,030104 developmental biology ,Endocrinology ,CELL-DEATH ,Respiratory failure ,ACID ALPHA-GLUCOSIDASE ,Acid alpha-glucosidase ,SKELETAL-MUSCLE ,Molecular Medicine ,Recombinant human GAA ,medicine.symptom ,Lysosomes ,Microtubule-Associated Proteins - 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.
- Published
- 2016
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