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Article

Distinct phenotypic and functional features of CADASIL mutations in the Notch3 ligand binding domain.

Brain : a journal of neurology - 1 Jun 2009

Monet-Leprêtre Marie, Bardot Boris, Lemaire Barbara, Domenga Valérie, Godin Ophélia, Dichgans Martin, Tournier-Lasserve Elisabeth, Cohen-Tannoudji Michel, Chabriat Hugues, Joutel Anne

Abstract excerpt

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is an autosomal dominant small-vessel disease of the brain caused by mutations in the NOTCH3 receptor. The highly stereotyped nature of the mutations, which alter the number of cysteine residues within the epidermal growth factor-like repeats (EGFR), predicts that all mutations share common mechanisms. Prior in...

Topics

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CADASIL
Cerebral Arteries
Ligands
Magnetic Resonance Imaging
Microscopy, Electron

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Muscle, Smooth, Vascular

Receptor, Notch3

Receptors, Notch

Source

Open in PubMed Open full text

Identifiers

PMID: 19293235
DOI: 10.1093/brain/awp049
PMCID: PMC2685919

Genes

EGFR
NOTCH3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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Distinct phenotypic and functional features of CADASIL mutations in the Notch3 ligand binding domain.PMID 19293235Read ↗

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 ↗

The archetypal R90C CADASIL–NOTCH3 mutation retains NOTCH3 function in vivoSemantic 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 NOTCH3 score: a pre-clinical CADASIL biomarker in a novel human genomic NOTCH3 transgenic mouse model with early progressive vascular NOTCH3 accumulation.Semantic proximity Read ↗

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

Protein aggregates containing wild-type and mutant NOTCH3 are major drivers of arterial pathology in CADASIL.Semantic proximity Read ↗

NOTCH3 R545C mutation drives vascular-neuronal dysfunction and cognitive impairment in CADASIL pathogenesis.Semantic proximity Read ↗

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

NOTCH3-R544C mutation drives endothelial dysfunction through inflammation, migration impairment, and lipid dysregulation.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 ↗

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 ↗

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