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NanoLuc reporters identify COL4A5 nonsense mutations susceptible to drug-induced stop codon readthrough

8 Feb 2022

Abstract excerpt

Alport syndrome, a disease of kidney, ear, and eye, is caused by pathogenic variants in the COL4A3, COL4A4, or COL4A5 genes encoding collagen α3α4α5(IV) of basement membranes. Collagen IV chains that are truncated due to nonsense variants/premature termination codons (PTCs) cannot assemble into heterotrimers or incorporate into basement membranes. To investigate the feasibility of PTC readthrough therapy for...

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PMID: 35243249
DOI: 10.1016/j.isci.2022.103891

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