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...
Na minha lista:
| Principais autores: | , , |
|---|---|
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMC
2022-06-01
|
| coleção: | Orphanet Journal of Rare Diseases |
| Assuntos: | |
| Acesso em linha: | https://doi.org/10.1186/s13023-022-02367-w |
| Tags: |
Sem tags, seja o primeiro a adicionar uma tag!
|