Article
ER-associated degradation in cystinosis pathogenesis and the prospects of precision medicine.
The Journal of clinical investigation - 2 Oct 2023
Venkatarangan Varsha, Zhang Weichao, Yang Xi, Thoene Jess, Hahn Si Houn, Li Ming
Abstract excerpt
Cystinosis is a lysosomal storage disease that is characterized by the accumulation of dipeptide cystine within the lumen. It is caused by mutations in the cystine exporter, cystinosin. Most of the clinically reported mutations are due to the loss of transporter function. In this study, we identified a rapidly degrading disease variant, referred to as cystinosin(7Δ). We demonstrated that this mutant is retained...
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