Evaluation of NACA and diNACA in human cystinosis fibroblast cell cultures as potential treatments for cystinosis

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 intralysosomal cysti...

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Detalles Bibliográficos
Autores principales: Hector, Emma, Cairns, Donald, Michael Wall, G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2022
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9205078/
https://www.ncbi.nlm.nih.gov/pubmed/35710564
http://dx.doi.org/10.1186/s13023-022-02367-w

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9205078/
https://www.ncbi.nlm.nih.gov/pubmed/35710564
http://dx.doi.org/10.1186/s13023-022-02367-w

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