The novel aminoglycoside, ELX-02, permits CTNSW138X translational read-through and restores lysosomal cystine efflux in cystinosis

Author:

Brasell Emma J.,Chu Lee Lee,Akpa Murielle M.,Eshkar-Oren Idit,Alroy Iris,Corsini Rachel,Gilfix Brian M.,Yamanaka Yojiro,Huertas Pedro,Goodyer PaulORCID

Funder

Cystinosis Research Foundation

Kidney Foundation of Canada

CIHR-FRQS

Genome Canada

Eloxx Pharmaceuticals, Inc

Publisher

Public Library of Science (PLoS)

Subject

Multidisciplinary

Reference32 articles.

1. Cystinosin, the protein defective in cystinosis, is a H(+)-driven lysosomal cystine transporter;V Kalatzis;EMBO J,2001

2. Cystinosis: renal glomerular and renal tubular function in relation to compliance with cystine-depleting therapy;G Nesterova;Pediatric nephrology,2014

3. Natural history of adolescent-onset cystinosis;JP Midgley;Pediatric nephrology,2011

4. Cystinosis. Intracellular cystine depletion by aminothiols in vitro and in vivo;JG Thoene;The Journal of clinical investigation,1976

5. Cysteamine therapy for children with nephropathic cystinosis;WA Gahl;The New England journal of medicine,1987

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