ER-associated degradation in cystinosis pathogenesis and the prospects of precision medicine

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 identifie...

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Detalles Bibliográficos
Autores principales: Venkatarangan, Varsha, Zhang, Weichao, Yang, Xi, Thoene, Jess, Hahn, Si Houn, Li, Ming
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Clinical Investigation 2023
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10541201/
https://www.ncbi.nlm.nih.gov/pubmed/37561577
http://dx.doi.org/10.1172/JCI169551

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10541201/
https://www.ncbi.nlm.nih.gov/pubmed/37561577
http://dx.doi.org/10.1172/JCI169551

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