TY - JOUR
T1 - Pompe Disease and Autophagy
T2 - Partners in Crime, or Cause and Consequence?
AU - Rodriguez-Arribas, M.
AU - Bravo-San Pedro, J. M.
AU - Gomez-Sanchez, R.
AU - Yakhine-Diop, S. M. S.
AU - Martinez-Chacon, G.
AU - Uribe-Carretero, E.
AU - Pinheiro De Castro, D. C. J.
AU - Casado-Naranjo, I.
AU - Lopez de Munain, A.
AU - Niso-Santano, M.
AU - Fuentes, J. M.
AU - Gonzalez-Polo, R. A.
PY - 2016
Y1 - 2016
N2 - 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.
AB - 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.
KW - Autophagy
KW - Glycogen synthase
KW - LC3
KW - Lysosomes
KW - Pompe disease
KW - Recombinant human GAA
KW - ACID ALPHA-GLUCOSIDASE
KW - ENZYME REPLACEMENT THERAPY
KW - SKELETAL-MUSCLE
KW - LATE-ONSET
KW - MITOCHONDRIAL DYSFUNCTION
KW - MONITORING AUTOPHAGY
KW - OXIDATIVE STRESS
KW - GENE-THERAPY
KW - CELL-DEATH
KW - SUPPRESSION
U2 - 10.2174/1567201812666150122131046
DO - 10.2174/1567201812666150122131046
M3 - Review article
SN - 0929-8673
VL - 23
SP - 2275
EP - 2285
JO - CURRENT MEDICINAL CHEMISTRY
JF - CURRENT MEDICINAL CHEMISTRY
IS - 21
ER -