Article
The novel aminoglycoside, ELX-02, permits CTNSW138X translational read-through and restores lysosomal cystine efflux in cystinosis.
PloS one - 1 Jan 2019
Brasell Emma J, Chu Lee Lee, Akpa Murielle M, Eshkar-Oren Idit, Alroy Iris, Corsini Rachel, Gilfix Brian M, Yamanaka Yojiro, Huertas Pedro, Goodyer Paul
Abstract excerpt
BACKGROUND: Cystinosis is a rare disorder caused by recessive mutations of the CTNS gene. Current therapy decreases cystine accumulation, thus slowing organ deterioration without reversing renal Fanconi syndrome or preventing eventual need for a kidney transplant.15-20% of cystinosis patients harbour at least one nonsense mutation in CTNS, leading to premature end of translation of the transcript. Aminoglycosides...
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