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Article

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

Journal of Alzheimer's disease : JAD - 1 Jun 2026

Sun Ruihua, Li Wanyue, Liu Ning, Ji Xiaoyi, Zhao Zhenxiang, Che Ningning, Li Anqi, Hu Wenjian, Zhang Jiewen

Abstract excerpt

BackgroundCerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is caused by mutations in the NOTCH3 gene. Previous research has predominantly focused on vascular smooth muscle cell pathology, whereas the role of brain microvascular endothelial cells (BMECs) in the disease remains unclear.ObjectiveTo investigate the impact of the NOTCH3-R544C mutation on BMECs...

Topics

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CADASIL
Cell Movement
Endothelial Cells
Endothelium, Vascular
Inflammation

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Lipid Metabolism

Mice, Transgenic

Receptor, Notch3

Source

Identifiers

PMID: 42012365
DOI: 10.1177/13872877261444309

Genes

NOTCH3
CXCL10

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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NOTCH3-R544C mutation drives endothelial dysfunction through inflammation, migration impairment, and lipid dysregulation.PMID 42012365Read ↗

NOTCH3 R545C mutation drives vascular-neuronal dysfunction and cognitive impairment in CADASIL pathogenesis.Semantic proximity Read ↗

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

Multiomic profiling reveals pericyte and smooth muscle cell contributions to CADASIL pathology in cell-specific Notch3 mutant miceSemantic proximity Read ↗

NOTCH3 Mutations in CADASIL: a multicellular perspective on neurodegeneration.Semantic proximity Read ↗

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

Pericytes are involved in the pathogenesis of cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.Semantic proximity Read ↗

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

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Notch3 Arg170Cys knock-in mice display pathologic and clinical features of the neurovascular disorder cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy.Semantic proximity Read ↗

The NOTCH3 score: a pre-clinical CADASIL biomarker in a novel human genomic NOTCH3 transgenic mouse model with early progressive vascular NOTCH3 accumulation.Semantic proximity Read ↗

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