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The novel aminoglycoside, ELX-02, permits CTNSW138X translational read-through and restores lysosomal cystine efflux in cystinosis
by
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
Published in
PloS one
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The aminoglycoside geneticin permits translational readthrough of the CTNS W138X nonsense mutation in fibroblasts from patients with nephropathic cystinosis
by
Brasell, Emma J.
,
Chu, LeeLee
,
El Kares, Reyhan
,
Seo, Jung Hwa
,
Loesch, Robin
,
Iglesias, Diana M.
,
Goodyer, Paul
Published in
Pediatric nephrology (Berlin, West)
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The novel aminoglycoside, ELX-02, permits CTNS.sup.W138X translational read-through and restores lysosomal cystine efflux in cystinosis
by
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
Published in
PloS one
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Article
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Plos One
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Pediatric Nephrology
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Subjects
Aminoglycosides
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Cystinosis
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Kidney Transplantation
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Cystine
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Cystine - Metabolism
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Cystinosis - Drug Therapy
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Fanconi Syndrome
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Genetic Aspects
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Mutation
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Nephrology
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Nonsense Mutation
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Proteins
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Science & Technology
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Toxicity
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Translation
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Accumulation
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Age
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Amino Acid Transport Systems, Neutral - Genetics
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Amino Acid Transport Systems, Neutral - Physiology
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Aminoglycoside
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