Article
Renal and Extra Renal Manifestations in Adult Zebrafish Model of Cystinosis.
International journal of molecular sciences - 30 Aug 2021
Berlingerio Sante Princiero, He Junling, De Groef Lies, Taeter Harold, Norton Tomas, Baatsen Pieter, Cairoli Sara, Goffredo Bianca, de Witte Peter, van den Heuvel Lambertus, Baelde Hans J, Levtchenko Elena
Abstract excerpt
Cystinosis is a rare, incurable, autosomal recessive disease caused by mutations in the CTNS gene. This gene encodes the lysosomal cystine transporter cystinosin, leading to lysosomal cystine accumulation in all cells of the body, with kidneys being the first affected organs. The current treatment with cysteamine decreases cystine accumulation, but does not reverse the proximal tubular dysfunction, glomerular...
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