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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Detalles Bibliográficos
Autores principales: Ivanova, Margarita M., Dao, Julia, Kasaci, Neil, Adewale, Benjamin, Nazari, Shaista, Noll, Lauren, Fikry, Jacqueline, Sanati, Armaghan Hafez, Goker-Alpan, Ozlem
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2021
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8544834/
https://www.ncbi.nlm.nih.gov/pubmed/34695170
http://dx.doi.org/10.1371/journal.pone.0247211

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8544834/
https://www.ncbi.nlm.nih.gov/pubmed/34695170
http://dx.doi.org/10.1371/journal.pone.0247211

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