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Article

Splice modulation of COL4A5 reinstates collagen IV assembly in an organoid model of Alport syndrome.

JCI insight - 9 Feb 2026

Saei Hassan, Estebe Bruno, Goudin Nicolas, Esmailpour Mahsa, Haure Julie, Gribouval Olivier, Arrondel Christelle, Moriniere Vincent, Tian Pinyuan, Lennon Rachel, Antignac Corinne, Mollet Geraldine, Dorval Guillaume

Abstract excerpt

Kidney organoids are an emerging tool for disease modeling, especially genetic diseases. Among these diseases, 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...

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Share to Collagen Type IV
Share to Glomerular Basement Membrane

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Share to Mutation

Share to Nephritis, Hereditary

Share to Oligonucleotides, Antisense

Share to Organoids

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Source

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Identifiers

PMID: 41411050
DOI: 10.1172/jci.insight.194759
PMCID: PMC12892906

Genes

COL4A5

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 3 Sept 2026.

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Splice modulation of COL4A5 reinstates collagen IV assembly in an organoid model of Alport syndrome.PMID 41411050Read ↗

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