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Article

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

Proceedings of the National Academy of Sciences of the United States of America - 24 Dec 2002

Karlström Helena, Beatus Paul, Dannaeus Karin, Chapman Gavin, Lendahl Urban, Lundkvist Johan

Abstract excerpt

Notch receptors are single transmembrane receptors that contain a large number of epidermal growth factor-like repeats (EGF repeats) in their extracellular domains. Mutations in the EGF repeats of the human Notch 3 receptor lead to the vascular dementia disease Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL). The vast majority of CADASIL mutations are missense...

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Identifiers

PMID: 12482954
DOI: 10.1073/pnas.252624099
PMCID: PMC139279

Genes

EGF

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

A CADASIL-mutated Notch 3 receptor exhibits impaired intracellular trafficking and maturation but normal ligand-induced signaling.PMID 12482954Read ↗

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

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

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

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

Mice carrying a R142C Notch 3 knock-in mutation do not develop a CADASIL-like phenotype.Semantic proximity Read ↗

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

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

Mutations in NOTCH3 cause the formation and retention of aggregates in the endoplasmic reticulum, leading to impaired cell proliferation.Semantic proximity Read ↗

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

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

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