Cargando…

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...

Descripción completa

Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7733024/
https://www.ncbi.nlm.nih.gov/pubmed/33335836
http://dx.doi.org/10.1016/j.ymgmr.2020.100667