{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Paradisi G"],"funding":["Telethon Foundation","Ministry of Health"],"pagination":["63-82"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC12835968"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["143"],"pubmed_abstract":["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 glycine substitutions that disrupt α1/α2 heterotrimer assembly, though insertions, deletions, and haploinsufficiency seem to also be pathogenic. Limited insight into collagen IV α1 and α2 biology and how specific variants affect their functions-coupled with a lack of rapid in vivo assays for functional variants classification-hampers patient stratification and therapy development. H"],"journal":["Matrix biology : journal of the International Society for Matrix Biology"],"pubmed_title":["Zebrafish col4a1 loss-of-function models mirror key neurovascular and ocular features of COL4A1/A2 syndrome and enable human variants assessment in vivo."],"pmcid":["PMC12835968"],"funding_grant_id":["RF-2021-12374963","5\\u00D71000"],"pubmed_authors":["Venditti M","Bonavolonta V","Paradisi G","Fasano G","Pedalino C","Lauri A","Tartaglia M","Del Bene F"],"additional_accession":[]},"is_claimable":false,"name":"Zebrafish col4a1 loss-of-function models mirror key neurovascular and ocular features of COL4A1/A2 syndrome and enable human variants assessment in vivo.","description":"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 glycine substitutions that disrupt α1/α2 heterotrimer assembly, though insertions, deletions, and haploinsufficiency seem to also be pathogenic. Limited insight into collagen IV α1 and α2 biology and how specific variants affect their functions-coupled with a lack of rapid in vivo assays for functional variants classification-hampers patient stratification and therapy development. H","dates":{"release":"2026-01-01T00:00:00Z","publication":"2026 Feb","modification":"2026-06-17T06:58:47.246Z","creation":"2026-06-17T03:10:45.004Z"},"accession":"S-EPMC12835968","cross_references":{"pubmed":["41248836"],"doi":["10.1016/j.matbio.2025.11.004"]}}