Evaluation of NACA and diNACA in human cystinosis fibroblast cell cultures as potential treatments for cystinosis.
(2022)
Journal Article
HECTOR, E., CAIRNS, D. and WALL, G.W. 2022. Evaluation of NACA and diNACA in human cystinosis fibroblast cell cultures as potential treatments for cystinosis. Orphanet journal of rare diseases [online], 17, article 231. Available from: https://doi.org/10.1186/s13023-022-02367-w
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... Read More about Evaluation of NACA and diNACA in human cystinosis fibroblast cell cultures as potential treatments for cystinosis..