Expression of CTNS Alleles: Subcellular Localization and Aminoglycoside Correction in Vitro

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...

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Veröffentlicht in:	Molecular genetics and metabolism 2002-02, Vol.75 (2), p.128-133
Hauptverfasser:	Helip-Wooley, A., Park, M.A., Lemons, R.M., Thoene, J.G.
Format:	Artikel
Sprache:	eng
Schlagworte:	Alleles Amino Acid Transport Systems, Neutral Aminoglycosides - metabolism Anti-Bacterial Agents - pharmacology Cells, Cultured Codon, Nonsense - genetics Cystinosis - genetics Cystinosis - metabolism Fibroblasts - metabolism Gentamicins - pharmacology Glycoproteins Humans Membrane Proteins - deficiency Membrane Proteins - genetics Membrane Transport Proteins Point Mutation - drug effects Subcellular Fractions
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