Publication

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 journalReview articleAcademicpeer-review

  • M. Rodriguez-Arribas
  • J. M. Bravo-San Pedro
  • R. Gomez-Sanchez
  • S. M. S. Yakhine-Diop
  • G. Martinez-Chacon
  • E. Uribe-Carretero
  • D. C. J. Pinheiro De Castro
  • I. Casado-Naranjo
  • A. Lopez de Munain
  • M. Niso-Santano
  • J. M. Fuentes
  • R. A. Gonzalez-Polo

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.

Original languageEnglish
Pages (from-to)2275-2285
Number of pages11
JournalCURRENT MEDICINAL CHEMISTRY
Volume23
Issue number21
Publication statusPublished - 2016

    Keywords

  • 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

ID: 35873264