Article
Cysteamine-bicalutamide combination therapy corrects proximal tubule phenotype in cystinosis.
EMBO molecular medicine - 7 Jul 2021
Jamalpoor Amer, van Gelder Charlotte Agh, Yousef Yengej Fjodor A, Zaal Esther A, Berlingerio Sante P, Veys Koenraad R, Pou Casellas Carla, Voskuil Koen, Essa Khaled, Ammerlaan Carola Me, Rega Laura Rita, van der Welle Reini En, Lilien Marc R, Rookmaaker Maarten B, Clevers Hans, Klumperman Judith, Levtchenko Elena, Berkers Celia R, Verhaar Marianne C, Altelaar Maarten, Masereeuw Rosalinde, Janssen Manoe J
Abstract excerpt
Nephropathic cystinosis is a severe monogenic kidney disorder caused by mutations in CTNS, encoding the lysosomal transporter cystinosin, resulting in lysosomal cystine accumulation. The sole treatment, cysteamine, slows down the disease progression, but does not correct the established renal proximal tubulopathy. Here, we developed a new therapeutic strategy by applying omics to expand our knowledge on the...
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