Patients with Gaucher disease display systemic oxidative stress dependent on therapy status

Gaucher disease is an autosomal recessive metabolic disorder caused by mutations in GBA1, which encodes for the lysosomal hydrolase enzyme, β-glucocerebrosidase. The resulting misfolded protein can trigger endoplasmic reticulum stress and an unfolded protein response within the affected cells. The e...

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Detalhes bibliográficos
Publicado no:Mol Genet Metab Rep
Main Authors: Kartha, Reena V., Terluk, Marcia R., Brown, Roland, Travis, Abigail, Mishra, Usha R., Rudser, Kyle, Lau, Heather, Jarnes, Jeanine R., Cloyd, James C., Weinreb, Neal J.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2020
Assuntos:
Research Paper
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7733024/
https://ncbi.nlm.nih.gov/pubmed/33335836
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgmr.2020.100667
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