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Development of mutant NOTCH3 knock-in mice as a model for CADASIL

✍ Scribed by Kunimoto, Shohko; Watanabe, Atsushi; Adachi, Kayo; Matsuzaki, Mikiko; Takeda, Kazuya; Wakita, Hideaki; Kalaria, Rajesh N.; Maruyama, Wakako; Takahashi, Keikichi


Book ID
122513371
Publisher
Elsevier Science
Year
2010
Tongue
English
Weight
67 KB
Volume
68
Category
Article
ISSN
0168-0102

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CADASIL (Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy, MIM 125310) is a genetic vascular dementia disease that is linked to missense mutations, small inframe deletions, and splice site mutations in the human Notch 3 gene. Here we describe the generation

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## Abstract Small vessel diseases (SVDs) of the brain are the leading cause of vascular cognitive impairment and a major contributor to stroke in the human adult, however, their pathogenesis is poorly understood. Dominant mutations in __NOTCH3__ cause CADASIL, one of the most prevalent inherited ce