Article
CADASIL mutations impair Notch3 glycosylation by Fringe.
Human molecular genetics - 15 Jun 2005
Arboleda-Velasquez Joseph F, Rampal Raajit, Fung Erik, Darland Diane C, Liu Min, Martinez Maria C, Donahue Christine P, Navarro-Gonzalez Manuel F, Libby Peter, D'Amore Patricia A, Aikawa Masanori, Haltiwanger Robert S, Kosik Kenneth S
Abstract excerpt
Mutations in the NOTCH3 gene trigger adult-onset stroke and vascular dementia in patients with CADASIL (cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy). All CADASIL mutations described to date affect the epidermal growth factor-like (EGF-like) repeats located in the extracellular domain of the Notch3 receptor. These domains are also the target of sequential complex...
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