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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Enregistré dans:
Détails bibliographiques
Publié dans:Mol Genet Metab Rep
Auteurs principaux: 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.
Format: Artigo
Langue:Inglês
Publié: Elsevier 2020
Sujets:
Research Paper
Accès en ligne: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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