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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Egile Nagusiak:	Emma Hector, Donald Cairns, G. Michael Wall
Formatua:	Artigo
Hizkuntza:	Inglês
Argitaratua:	BMC 2022-06-01
Saila:	Orphanet Journal of Rare Diseases
Gaiak:	N-acetylcysteine amide NACA diNACA Cystinosis Cystine Cysteine
Sarrera elektronikoa:	https://doi.org/10.1186/s13023-022-02367-w
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