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Zebrafish col4a1 loss-of-function models mirror key neurovascular and ocular features of COL4A1/A2 syndrome and enable human variants assessment in vivo.

Matrix biology : journal of the International Society for Matrix Biology - 1 Feb 2026

Paradisi Graziamaria, Bonavolontà Valeria, Venditti Martina, Fasano Giulia, Pedalino Catia, Del Bene Filippo, Tartaglia Marco, Lauri Antonella

Abstract excerpt

Pathogenic variants in COL4A1 and COL4A2, encoding type IV collagen α1 and α2 chains-core components of all basement membranes-cause a multisystem disorder with variable expressivity. Affected individuals commonly present with cerebral small vessel disease (cSVD), unmanageable intracerebral haemorrhage (ICH), drug-resistant epilepsy, microphthalmia, and congenital cataract. Severe phenotypes are often linked to...

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Collagen Type IV
Disease Models, Animal
Eye
Gene Knockdown Techniques
Loss of Function Mutation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Zebrafish Proteins

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Open in PubMed Open full text

Identifiers

PMID: 41248836
DOI: 10.1016/j.matbio.2025.11.004
PMCID: PMC12835968

Genes

COL4A1
COL4A2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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Zebrafish col4a1 loss-of-function models mirror key neurovascular and ocular features of COL4A1/A2 syndrome and enable human variants assessment in vivo.PMID 41248836Read ↗

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