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Article

CADASIL mutations enhance spontaneous multimerization of NOTCH3.

Human molecular genetics - 1 Aug 2009

Opherk Christian, Duering Marco, Peters Nils, Karpinska Anna, Rosner Stefanie, Schneider Elisabeth, Bader Benedikt, Giese Armin, Dichgans Martin

Abstract excerpt

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is the most common monogenic cause of stroke and vascular dementia. Disease-causing mutations invariably affect cysteine residues within epidermal growth factor-like repeat domains in the extracellular domain of the NOTCH3 receptor (N3(ECD)). The biochemical and histopathological hallmark of CADASIL is the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 19417009
DOI: 10.1093/hmg/ddp211

Genes

ECD
NOTCH3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

CADASIL mutations enhance spontaneous multimerization of NOTCH3.PMID 19417009Read ↗

Co-aggregate formation of CADASIL-mutant NOTCH3: a single-particle analysis.Semantic proximity Read ↗

Structural changes in NOTCH3 induced by CADASIL mutations: Role of cysteine and non-cysteine alterations.Semantic proximity Read ↗

NOTCH3 CADASIL Variant Receptor Aggregation Requires NOTCH3 Wild-Type Receptors: Identification of Highly Selective Inhibitors That Block the Process.Semantic proximity Read ↗

Cysteine-sparing CADASIL mutations in NOTCH3 show proaggregatory properties in vitro.Semantic proximity Read ↗

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

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

Strong clustering and stereotyped nature of Notch3 mutations in CADASIL patients.Semantic proximity Read ↗

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

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

Notch3 Signaling and Aggregation as Targets for the Treatment of CADASIL and Other NOTCH3-Associated Small-Vessel Diseases.Semantic proximity Read ↗

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

The archetypal R90C CADASIL–NOTCH3 mutation retains NOTCH3 function in vivoSemantic proximity Read ↗

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