Article
Hypomorphic Notch 3 alleles link Notch signaling to ischemic cerebral small-vessel disease.
Proceedings of the National Academy of Sciences of the United States of America - 24 May 2011
Arboleda-Velasquez Joseph F, Manent Jan, Lee Jeong Hyun, Tikka Saara, Ospina Carolina, Vanderburg Charles R, Frosch Matthew P, Rodríguez-Falcón Manuel, Villen Judit, Gygi Steven, Lopera Francisco, Kalimo Hannu, Moskowitz Michael A, Ayata Cenk, Louvi Angeliki, Artavanis-Tsakonas Spyros
Abstract excerpt
The most common monogenic cause of small-vessel disease leading to ischemic stroke and vascular dementia is the neurodegenerative syndrome cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), which is associated with mutations in the Notch 3 receptor. CADASIL pathology is characterized by vascular smooth muscle cell degeneration and accumulation of diagnostic...
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