Article

Therapeutic splice modulation of COL4A5 reinstates collagen IV assembly in an organoid model of X-linked Alport syndrome

2025-06-12

Abstract excerpt

Kidney organoids are an emerging tool for disease modeling, especially genetic diseases. Among them, X-linked Alport syndrome (XLAS) is a hematuric nephropathy affecting the glomerular basement membrane (GBM) secondary to pathogenic variations in the COL4A5 gene encoding the α5 subunit of type IV collagen [α5(IV)]. In patients carrying pathogenic variations affecting splicing, the use of antisense oligonucleotide...

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Literature Corpus work: 8a034c53-5cb9-536b-a02b-de9c585fe5d1
DOI: 10.1101/2025.06.10.658776

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