NOTCH3 R545C mutation drives vascular-neuronal dysfunction and cognitive impairment in CADASIL pathogenesis.

Abstract excerpt

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common hereditary small vessel disease caused by mutations in the NOTCH3 gene. However, its pathogenic mechanisms remain incompletely understood. Given the high prevalence of the NOTCH3 p.Arg544Cys (R544C) mutation in East Asian populations, we developed a novel CRISPR/Cas9-mediated mouse model...

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• CADASIL
• Cognitive Dysfunction
• Disease Models, Animal
• Hippocampus
• Mice