Article

Aminoglycoside-induced premature termination codon readthrough of <i>COL4A5</i> nonsense mutations that cause Alport syndrome

2021-06-11

Abstract excerpt

<h4>ABSTRACT</h4> Alport syndrome (AS) is characterized by glomerular basement membrane (GBM) abnormalities leading to progressive glomerulosclerosis. Mutations in the COL4A3, COL4A4 or COL4A5 genes encoding type IV collagen α3α4α5 cause AS. Truncated α3, α4, and α5 chains lacking an intact COOH-terminal noncollagenous domain due to a premature termination codon (PTC) cannot assemble into heterotrimers or incor...

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Literature Corpus work: a3bbb61a-172d-597f-b85a-07d989c2f3be
DOI: 10.1101/2021.06.11.448099

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