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Activating NOTCH3 mutation in a patient with small-vessel-disease of the Brain

1 Jan 2008

Abstract excerpt

The most common causative diagnosis of hereditary small-vessel-disease of the brain, CADASIL, is due to highly stereotyped mutations in the NOTCH3 receptor. NOTCH3 has 33 exons but all CADASIL mutations occur within the Epidermal Growth Factor-like Repeats encoded by exons 2-24, lead to an odd number of cysteine residues and are associated with GOM deposits and abnormal NOTCH3 protein accumulation. The majority...

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PMID: 18273901
DOI: 10.1002/humu.9527

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Activating NOTCH3 mutation in a patient with small-vessel-disease of the BrainPMID 18273901Read ↗

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Progress to Clarify How NOTCH3 Mutations Lead to CADASIL, a Hereditary Cerebral Small Vessel Disease.Semantic proximity Read ↗

A novel frameshift variant in the CADASIL gene NOTCH3: pathogenic or not?Semantic proximity Read ↗

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New mutations in the Notch3 gene in patients with cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy (CADASIL).Semantic proximity Read ↗

Pathogenesis of CADASIL: transgenic and knock-out mice to probe function and dysfunction of the mutated gene, Notch3, in the cerebrovasculature.Semantic proximity Read ↗

Mutational screening of NOTCH3 gene reveals two novel mutations: complexity of CADASIL diagnosis.Semantic proximity Read ↗

The Pathobiology of Cerebrovascular Lesions in CADASIL Small Vessel DiseaseSemantic proximity Read ↗

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