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Article

The archetypal R90C CADASIL–NOTCH3 mutation retains NOTCH3 function in vivo

1 Mar 2007

Abstract excerpt

Cerebral Autosomal Dominant Arteriopathy with Subcortical infarcts and Leukoencephalopathy (CADASIL) is the most prominent known cause of inherited stroke and vascular dementia in human adult. The disease gene, NOTCH3, encodes a transmembrane receptor primarily expressed in arterial smooth muscle cells (SMC). Pathogenic mutations lead to an odd number of cysteine residues within the NOTCH3 extracellular domain...

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Cell Adhesion Molecules Research
Cerebrovascular and genetic disorders

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 17331978
DOI: 10.1093/hmg/ddm042

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The archetypal R90C CADASIL–NOTCH3 mutation retains NOTCH3 function in vivoPMID 17331978Read ↗

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Protein aggregates containing wild-type and mutant NOTCH3 are major drivers of arterial pathology in 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 ↗

Biochemical characterization and cellular effects of CADASIL mutants of NOTCH3.Semantic proximity Read ↗

Pathogenic mutations associated with cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy differently affect Jagged1 binding and Notch3 activity via the RBP/JK signaling Pathway.Semantic proximity Read ↗

Archetypal Arg169Cys mutation in NOTCH3 does not drive the pathogenesis in cerebral autosomal dominant arteriopathy with subcortical infarcts and leucoencephalopathy via a loss-of-function mechanism.Semantic proximity Read ↗

Hypomorphic Notch 3 alleles link Notch signaling to ischemic cerebral small-vessel disease.Semantic proximity Read ↗

Transgenic mice expressing mutant Notch3 develop vascular alterations characteristic of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.Semantic proximity Read ↗

Notch3 Arg170Cys knock-in mice display pathologic and clinical features of the neurovascular disorder cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.Semantic proximity Read ↗

The ectodomain of the Notch3 receptor accumulates within the cerebrovasculature of CADASIL patients.Semantic proximity Read ↗

Analysis of the pathogenicity and pathological characteristics of NOTCH3 gene-sparing cysteine mutations in vitro and in vivo modelsSemantic proximity Read ↗

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