Article
Cystinosin deficient rats recapitulate the phenotype of nephropathic cystinosis
2021-06-30
Abstract excerpt
<h4>Background</h4> The lysosomal storage disease cystinosis is caused by mutations in CTNS , encoding a cystine transporter, 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 and a kidney transplant is in...
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Identifiers and source
- Literature Corpus work
- 09f2a1f5-b837-51a2-887c-61ca57bac3d2
- DOI
- 10.1101/2021.06.29.450444