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...
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| Auteurs principaux: | , , , , , , , , |
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| Format: | article |
| Langue: | EN |
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Public Library of Science (PLoS)
2021
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| Accès en ligne: | https://doaj.org/article/e54339c46bde456e83bae2d7939f71cc |
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