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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Hlavní autoři:	Emma Hector, Donald Cairns, G. Michael Wall
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	BMC 2022-06-01
Edice:	Orphanet Journal of Rare Diseases
Témata:	N-acetylcysteine amide NACA diNACA Cystinosis Cystine Cysteine
On-line přístup:	https://doi.org/10.1186/s13023-022-02367-w
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