Article
Cystinosin-deficient rats recapitulate the phenotype of nephropathic cystinosis.
American journal of physiology. Renal physiology - 1 Aug 2022
Hollywood Jennifer A, Kallingappa Prasanna K, Cheung Pang Yuk, Martis Renita M, Sreebhavan Sree, 'Atiola Robert D, Chatterjee Aparajita, Buckels Emma J, Matthews Brya G, Lewis Paula M, Davidson Alan J
Abstract excerpt
The lysosomal storage disease cystinosis is caused by mutations in CTNS, encoding the cystine transporter cystinosin, and in its severest form leads to proximal tubule dysfunction followed by kidney failure. Patients receive the drug-based therapy cysteamine from diagnosis. However, despite long-term treatment, cysteamine only slows the progression of end-stage renal disease. Preclinical testing in cystinotic...
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