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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Sparad:
Bibliografiska uppgifter
I publikationen:Mol Genet Metab Rep
Huvudupphovsmän: 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.
Materialtyp: Artigo
Språk:Inglês
Publicerad: Elsevier 2020
Ämnen:
Research Paper
Länkar: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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