Evaluation of NACA and diNACA in human cystinosis fibroblast cell cultures as potential treatments for cystinosis
Abstract Background Cystinosis is a rare autosomal recessive lysosomal storage disease, associated with high morbidity and mortality. Mutations in the CTNS gene disable a membrane protein responsible for the transport of cystine out of the lysosome. Loss of transporter function leads to intralysosom...
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| Autors principals: | , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
BMC
2022-06-01
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| Col·lecció: | Orphanet Journal of Rare Diseases |
| Matèries: | |
| Accés en línia: | https://doi.org/10.1186/s13023-022-02367-w |
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