Article
Cystinosis (ctns) zebrafish mutant shows pronephric glomerular and tubular dysfunction.
Scientific reports - 15 Feb 2017
Elmonem Mohamed A, Khalil Ramzi, Khodaparast Ladan, Khodaparast Laleh, Arcolino Fanny O, Morgan Joseph, Pastore Anna, Tylzanowski Przemko, Ny Annelii, Lowe Martin, de Witte Peter A, Baelde Hans J, van den Heuvel Lambertus P, Levtchenko Elena
Abstract excerpt
The human ubiquitous protein cystinosin is responsible for transporting the disulphide amino acid cystine from the lysosomal compartment into the cytosol. In humans, Pathogenic mutations of CTNS lead to defective cystinosin function, intralysosomal cystine accumulation and the development of cystinosis. Kidneys are initially affected with generalized proximal tubular dysfunction (renal Fanconi syndrome), then the...
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