Discover Community Create You

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Article

The ectodomain of the Notch3 receptor accumulates within the cerebrovasculature of CADASIL patients.

The Journal of clinical investigation - 1 Mar 2000

Joutel A, Andreux F, Gaulis S, Domenga V, Cecillon M, Battail N, Piga N, Chapon F, Godfrain C, Tournier-Lasserve E

Abstract excerpt

Mutations in Notch3 cause CADASIL (cerebral autosomal dominant adult onset arteriopathy), which leads to stroke and dementia in humans. CADASIL arteriopathy is characterized by major alterations of vascular smooth muscle cells and the presence of specific granular osmiophilic deposits. Patients c...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Dementia, Multi-Infarct
Share to Endopeptidases
Share to In Situ Hybridization

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Microscopy, Immunoelectron

Share to Muscle, Smooth, Vascular

Share to Peptide Fragments

Share to Receptor, Notch3

Share to Receptors, Notch

Source

Open in PubMed Open full text

Identifiers

PMID: 10712431
DOI: 10.1172/JCI8047
PMCID: PMC289174

Genes

EGF

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026. Prepared record publication-10712431-2026-09-02.2. Manifest publication-graph-cohort-2026-09-02.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 2 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

The ectodomain of the Notch3 receptor accumulates within the cerebrovasculature of CADASIL patients.PMID 10712431Read ↗

NOTCH3 is non-enzymatically fragmented in inherited cerebral small-vessel disease.Semantic proximity Read ↗

[Molecular basis and physiopathogenic mechanisms of CADASIL: a model of small vessel diseases of the brain].Semantic proximity Read ↗

Heterogeneity of NOTCH3 activation mechanisms uncovers therapeutic potential for targeted therapies for CADASILSemantic 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 ↗

[CADASIL: genetics and physiopathology].Semantic proximity Read ↗

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

A CADASIL-mutated Notch 3 receptor exhibits impaired intracellular trafficking and maturation but normal ligand-induced signaling.Semantic proximity Read ↗

Homozygous NOTCH3 null mutation and impaired NOTCH3 signaling in recessive early‐onset arteriopathy and cavitating leukoencephalopathySemantic proximity Read ↗

A Novel Mutation Outside of the EGFr Encoding Exons of NOTCH3 Gene in a Chinese with CADASIL.Semantic proximity Read ↗

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

Homozygous NOTCH3 p.R587C mutation in Chinese patients with CADASIL: a case report.Semantic proximity Read ↗

What factors determine phenotype of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL)? Considerations in the context of a novel pathogenic R110C mutation in the NOTCH3 gene.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.