Article

A <i>Drosophila</i> model to screen Alport syndrome <i>COL4A5</i> variants for their functional pathogenicity

2024-03-11

Abstract excerpt

<h4>ABSTRACT</h4> Alport syndrome is a hereditary chronic kidney disease, attributed to rare pathogenic variants in either of three collagen genes ( COL4A3/4/5 ) with most localized in COL4A5 . Trimeric type IV Collagen α3α4α5 is essential for the glomerular basement membrane that forms the kidney filtration barrier. A means to functionally assess the many candidate variants and determine pathogenicity is urgen...

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Literature Corpus work: 809ec980-04e5-5527-be02-0f5aa8425c8d
DOI: 10.1101/2024.03.06.583697

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