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Article

Col4a1 mutation generates vascular abnormalities correlated with neuronal damage in a mouse model of HANAC syndrome.

Neurobiology of disease - 1 Apr 2017

Trouillet Alix, Lorach Henri, Dubus Elisabeth, El Mathari Brahim, Ivkovic Ivana, Dégardin Julie, Simonutti Manuel, Paques Michel, Guillonneau Xavier, Sennlaub Florian, Sahel José-Alain, Ronco Pierre, Plaisier Emmanuelle, Picaud Serge

Abstract excerpt

The HANAC syndrome is caused by mutations in the gene coding for collagen4a1, a major component of blood vessel basement membranes. Ocular symptoms include an increase in blood vessel tortuosity and occasional hemorrhages. To examine how vascular defects can affect neuronal function, we analyzed the retinal phenotype of a HANAC mouse model. Heterozygous mutant mice displayed both a thinning of the basement...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 28057519
DOI: 10.1016/j.nbd.2016.12.014

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