Article
Expression of CTNS alleles: subcellular localization and aminoglycoside correction in vitro.
Molecular genetics and metabolism - 1 Feb 2002
Helip-Wooley A, Park M A, Lemons R M, Thoene J G
Abstract excerpt
Mutations in CTNS result in one of three forms of cystinosis: benign, intermediate, or nephropathic. Homozygosity for a nonsense mutation in CTNS (753G -->A), encoding a premature termination codon (PTC) at amino acid 138 (W138X), results in nephropathic cystinosis. Gentamicin is known to induce PTC readthrough and hence full-length protein production. We demonstrate that addition of gentamicin (300 microg/ml) to...
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