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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Public Library of Science (PLoS)
2021
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| Acceso en línea: | https://doaj.org/article/e54339c46bde456e83bae2d7939f71cc |
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por Margarita M. Ivanova, Julia Dao, Neil Kasaci, Benjamin Adewale, Shaista Nazari, Lauren Noll, Jacqueline Fikry, Armaghan Hafez Sanati, Ozlem Goker-Alpan
Publicado 2021
Enlace del recursoPublicado 2021
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