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Article

Exonic mutations in cell-cell adhesion may contribute to CADASIL-related CSVD pathology.

Human genetics - 1 Sept 2023

Dunn Paul J, Lea Rodney A, Maksemous Neven, Smith Robert A, Sutherland Heidi G, Haupt Larisa M, Griffiths Lyn R

Abstract excerpt

Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) is a condition caused by mutations in NOTCH3 and results in a phenotype characterised by recurrent strokes, vascular dementia and migraines. Whilst a genetic basis for the disease is known, the molecular mechanisms underpinning the pathology of CADASIL are still yet to be determined. Studies conducted at the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 37422595
DOI: 10.1007/s00439-023-02584-8
PMCID: PMC10449969

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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