Cellular and biochemical response to chaperone versus substrate reduction therapies in neuropathic Gaucher disease

Cellular and biochemical response to chaperone versus substrate reduction therapies in neuropathic Gaucher disease

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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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Xehetasun bibliografikoak
Egile Nagusiak: Margarita M. Ivanova, Julia Dao, Neil Kasaci, Benjamin Adewale, Shaista Nazari, Lauren Noll, Jacqueline Fikry, Armaghan Hafez Sanati, Ozlem Goker-Alpan
Formatua: Artikulua
Hizkuntza:English
Argitaratua: Public Library of Science (PLoS) 2021-01-01
Saila:PLoS ONE
Sarrera elektronikoa:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8544834/?tool=EBI

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8544834/?tool=EBI

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