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Article

Biochemical characterization and cellular effects of CADASIL mutants of NOTCH3.

PloS one - 1 Jan 2012

Meng He, Zhang Xiaojie, Yu Genggeng, Lee Soo Jung, Chen Y Eugene, Prudovsky Igor, Wang Michael M

Abstract excerpt

Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) is the best understood cause of dominantly inherited stroke and results from NOTCH3 mutations that lead to NOTCH3 protein accumulation and selective arterial smooth muscle degeneration. Previous studies show that NOTCH3 protein forms multimers. Here, we investigate protein interactions between NOTCH3 and other...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 23028706
DOI: 10.1371/journal.pone.0044964
PMCID: PMC3445613

Genes

NOTCH3
NOTCH1
NOTCH4

Variants

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

Biochemical characterization and cellular effects of CADASIL mutants of NOTCH3.PMID 23028706Read ↗

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

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

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 ↗

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

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

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

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

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

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

NOTCH3 Mutations in CADASIL Alter Lipid Metabolism: Insights from Patient Plasma and In Vitro Models.Semantic proximity Read ↗

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

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