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Article

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

The Journal of clinical investigation - 22 Feb 2024

Dupré Nicolas, Gueniot Florian, Domenga-Denier Valérie, Dubosclard Virginie, Nilles Christelle, Hill-Eubanks David, Morgenthaler-Roth Christelle, Nelson Mark T, Keime Céline, Danglot Lydia, Joutel Anne

Abstract excerpt

Loss of arterial smooth muscle cells (SMCs) and abnormal accumulation of the extracellular domain of the NOTCH3 receptor (Notch3ECD) are the 2 core features of CADASIL, a common cerebral small vessel disease caused by highly stereotyped dominant mutations in NOTCH3. Yet the relationship between NOTCH3 receptor activity, Notch3ECD accumulation, and arterial SMC loss has remained elusive, hampering the development...

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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: 38386425
DOI: 10.1172/JCI175789
PMCID: PMC11014667

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.

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