Article
The NOTCH3 score: a pre-clinical CADASIL biomarker in a novel human genomic NOTCH3 transgenic mouse model with early progressive vascular NOTCH3 accumulation.
Acta neuropathologica communications - 29 Dec 2015
Rutten Julie W, Klever Roselin R, Hegeman Ingrid M, Poole Dana S, Dauwerse Hans G, Broos Ludo A M, Breukel Cor, Aartsma-Rus Annemieke M, Verbeek J Sjef, van der Weerd Louise, van Duinen Sjoerd G, van den Maagdenberg Arn M J M, Lesnik Oberstein Saskia A J
Abstract excerpt
INTRODUCTION: CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy) is a hereditary small vessel disease caused by mutations in the NOTCH3 gene, leading to toxic NOTCH3 protein accumulation in the small- to medium sized arterioles. The accumulation is systemic but most pronounced in the brain vasculature where it leads to clinical symptoms of recurrent stroke and...
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