Genome-wide transcriptome study in skin biopsies reveals an association of E2F4 with cadasil and cognitive impairment.

doi:10.1038/s41598-021-86349-1

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Genome-wide transcriptome study in skin biopsies reveals an association of E2F4 with cadasil and cognitive impairment.

Scientific reports - 25 Mar 2021

Muiño Elena, Maisterra Olga, Jiménez-Balado Joan, Cullell Natalia, Carrera Caty, Torres-Aguila Nuria P, Cárcel-Márquez Jara, Gallego-Fabrega Cristina, Lledós Miquel, González-Sánchez Jonathan, Olmos-Alpiste Ferran, Espejo Eva, March Álvaro, Pujol Ramón, Rodríguez-Campello Ana, Romeral Gemma, Krupinski Jurek, Martí-Fàbregas Joan, Montaner Joan, Roquer Jaume, Fernández-Cadenas Israel

Abstract excerpt

CADASIL is a small vessel disease caused by mutations in NOTCH3 that lead to an odd number of cysteines in the EGF-like repeat domain, causing protein misfolding and aggregation. The main symptoms are migraine, psychiatric disturbances, recurrent strokes and dementia, being executive function characteristically impaired. The molecular pathways altered by this receptor aggregation need to be studied further. A...

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PMID: 33767277
DOI: 10.1038/s41598-021-86349-1
PMCID: PMC7994794

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

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