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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...
| Autores principales: | , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
American Society for Clinical Investigation
2023
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| Materias: | |
| 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 |