Cellular and biochemical response to chaperone versus substrate reduction therapies in neuropathic Gaucher disease
Gaucher disease (GD) is caused by deficiency of the lysosomal membrane enzyme glucocerebrosidase (GCase) and the subsequent accumulation of its substrate, glucosylceramide (GC). Mostly missense mutations of the glucocerebrosidase gene (GBA) cause GCase misfolding and inhibition of proper lysosomal t...
Enregistré dans:
| Auteurs principaux: | , , , , , , , , |
|---|---|
| Format: | article |
| Langue: | EN |
| Publié: |
Public Library of Science (PLoS)
2021
|
| Sujets: | |
| Accès en ligne: | https://doaj.org/article/8ae526a440ac4cba991bf36e1ee47610 |
| Tags: |
Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!
|