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Article

CADASIL-associated Notch3 mutations have differential effects both on ligand binding and ligand-induced Notch3 receptor signaling through RBP-Jk.

Experimental cell research - 1 Oct 2004

Peters Nils, Opherk Christian, Zacherle Simone, Capell Anja, Gempel Petra, Dichgans Martin

Abstract excerpt

Mutations in the NOTCH3 gene are the cause of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), a hereditary angiopathy leading to strokes and dementia. Pathogenic mutations remove or insert cysteine residues within epidermal growth factor (EGF) repeats in the extracellular domain of the Notch3 receptor (N3ECD). Vascular smooth muscle cells (VSMC) are the...

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Source

Identifiers

PMID: 15350543
DOI: 10.1016/j.yexcr.2004.06.004

Genes

EGF
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.

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CADASIL-associated Notch3 mutations have differential effects both on ligand binding and ligand-induced Notch3 receptor signaling through RBP-Jk.PMID 15350543Read ↗

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 ↗

CADASIL-causing mutations do not alter Notch3 receptor processing and activation.Semantic proximity Read ↗

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

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

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

Functional analysis of a recurrent missense mutation in Notch3 in CADASILSemantic proximity Read ↗

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

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

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

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