Cargando…
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...
| Autores principales: | , , |
|---|---|
| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2022
|
| Materias: | |
| 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 |