Expression of CTNS alleles: subcellular localization and aminoglycoside correction in vitro
A Helip-Wooley, MA Park, RM Lemons… - Molecular genetics and …, 2002 - Elsevier
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 μg/ml) to cystinotic fibroblasts
leads to depletion of intracellular cystine in cell lines with a premature termination codon, but …
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 μg/ml) to cystinotic fibroblasts
leads to depletion of intracellular cystine in cell lines with a premature termination codon, but …