The aminoglycoside geneticin permits translational readthrough of the CTNS W138X nonsense mutation in fibroblasts from patients with nephropathic cystinosis

A novel gene encoding an integral membrane protein is mutated in nephropathic cystinosis

Margaret Town, G Jean, Stéphanie Cherqui et al. · Nature Genetics · 1998 · 642 citations

Medicine, Genetics, Molecular Genetics +4

Cysteamine Therapy for Children with Nephropathic Cystinosis

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Medicine, Pediatrics, Pharmacology +13

Autoradiography of gentamicin uptake by the rat proximal tubule cell

F J Silverblatt, Craig Kuehn · Kidney International · 1979 · 305 citations · Full text

Pharmacy, Cell Biology, Renal Pharmacokinetics +8

Nephropathic Cystinosis in Adults: Natural History and Effects of Oral Cysteamine Therapy

William A. Gahl, Joan Z. Balog, Robert Kleta · Annals of Internal Medicine · 2007 · 278 citations

Medicine, Nephrology, Pathology +14

Ataluren stimulates ribosomal selection of near-cognate tRNAs to promote nonsense suppression

Bijoyita Roy, Westley J. Friesen, Yuki Tomizawa et al. · Proceedings of the National Academy of Sciences · 2016 · 223 citations · Full text

Life Sciences, Genetics, Molecular Biology +17