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

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Title: Zebrafish col4a1 loss-of-function models mirror key neurovascular and ocular features of COL4A1/A2 syndrome and enable human variants assessment in vivo.
Authors: Paradisi G; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, 00165, Rome, Italy., Bonavolontà V; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, 00165, Rome, Italy., Venditti M; Research Laboratories, Ospedale Pediatrico Bambino Gesù, IRCCS, 00165, Rome, Italy., Fasano G; Research Laboratories, Ospedale Pediatrico Bambino Gesù, IRCCS, 00165, Rome, Italy., Pedalino C; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, 00165, Rome, Italy., Del Bene F; Sorbonne Université, INSERM, CNRS, Institut de la Vision, 17 Rue Moreau, 75012, Paris, France., Tartaglia M; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, 00165, Rome, Italy., Lauri A; Molecular Genetics and Functional Genomics, Ospedale Pediatrico Bambino Gesù, IRCCS, 00165, Rome, Italy. Electronic address: antonella.lauri@opbg.net.
Source: Matrix biology : journal of the International Society for Matrix Biology [Matrix Biol] 2026 Feb; Vol. 143, pp. 63-82. Date of Electronic Publication: 2025 Nov 15.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 9432592 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1569-1802 (Electronic) Linking ISSN: 0945053X NLM ISO Abbreviation: Matrix Biol Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1569-1802
DOI:10.1016/j.matbio.2025.11.004