Transendocytosis is impaired in CADASIL-mutant NOTCH3.

Abstract excerpt

Mutations in the human NOTCH3 gene cause cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), but the pathogenesis of CADASIL has remained unclear. Recently, endocytosis of the Notch ectodermal domain into ligand-expressing cells, called transendocytosis, has come to be considered critical for Notch activation. We hypothesized that the mutant NOTCH3 protein,...

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