Pompe Disease: New Developments in an Old Lysosomal Storage Disorder.
Pompe disease
autophagy
enzyme replacement therapy
gene therapy
lysosomal targeting
lysosome
muscle
satellite cells
Journal
Biomolecules
ISSN: 2218-273X
Titre abrégé: Biomolecules
Pays: Switzerland
ID NLM: 101596414
Informations de publication
Date de publication:
18 09 2020
18 09 2020
Historique:
received:
27
08
2020
revised:
14
09
2020
accepted:
15
09
2020
entrez:
23
9
2020
pubmed:
24
9
2020
medline:
14
9
2021
Statut:
epublish
Résumé
Pompe disease, also known as glycogen storage disease type II, is caused by the lack or deficiency of a single enzyme, lysosomal acid alpha-glucosidase, leading to severe cardiac and skeletal muscle myopathy due to progressive accumulation of glycogen. The discovery that acid alpha-glucosidase resides in the lysosome gave rise to the concept of lysosomal storage diseases, and Pompe disease became the first among many monogenic diseases caused by loss of lysosomal enzyme activities. The only disease-specific treatment available for Pompe disease patients is enzyme replacement therapy (ERT) which aims to halt the natural course of the illness. Both the success and limitations of ERT provided novel insights in the pathophysiology of the disease and motivated the scientific community to develop the next generation of therapies that have already progressed to the clinic.
Identifiants
pubmed: 32962155
pii: biom10091339
doi: 10.3390/biom10091339
pmc: PMC7564159
pii:
doi:
Substances chimiques
Glycogen
9005-79-2
alpha-Glucosidases
EC 3.2.1.20
Types de publication
Journal Article
Research Support, N.I.H., Intramural
Research Support, Non-U.S. Gov't
Review
Langues
eng
Sous-ensembles de citation
IM
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