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Article

Cysteine-sparing CADASIL mutations in NOTCH3 show proaggregatory properties in vitro.

Stroke - 1 Mar 2015

Wollenweber Frank Arne, Hanecker Patrizia, Bayer-Karpinska Anna, Malik Rainer, Bäzner Hansjörg, Moreton Fiona, Muir Keith W, Müller Susanna, Giese Armin, Opherk Christian, Dichgans Martin, Haffner Christof, Duering Marco

Abstract excerpt

BACKGROUND AND PURPOSE: Mutations in NOTCH3 cause cerebral autosomal-dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), the most common monogenic cause of stroke and vascular dementia. Misfolding and aggregation of NOTCH3 proteins triggered by cysteine-affecting mutations are considered to be the key disease mechanisms. However, the significance of cysteine-sparing mutations is...

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Source

Identifiers

PMID: 25604251
DOI: 10.1161/STROKEAHA.114.007472

Genes

NOTCH3

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.

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Cysteine-sparing CADASIL mutations in NOTCH3 show proaggregatory properties in vitro.PMID 25604251Read ↗

Structural changes in NOTCH3 induced by CADASIL mutations: Role of cysteine and non-cysteine alterations.Semantic proximity Read ↗

Analysis of the pathogenicity and pathological characteristics of NOTCH3 gene-sparing cysteine mutations in vitro and in vivo modelsSemantic proximity Read ↗

Naturally occurring NOTCH3 exon skipping attenuates NOTCH3 protein aggregation and disease severity in CADASIL patientsSemantic proximity Read ↗

Notch3 Signaling and Aggregation as Targets for the Treatment of CADASIL and Other NOTCH3-Associated Small-Vessel Diseases.Semantic proximity Read ↗

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Co-aggregate formation of CADASIL-mutant NOTCH3: a single-particle analysis.Semantic proximity Read ↗

Phenotypes Associated with NOTCH3 Cysteine-Sparing Mutations in Patients with Clinical Suspicion of CADASIL: A Systematic Review.Semantic proximity Read ↗

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Genotype and Phenotype Differences in CADASIL from an Asian Perspective.Semantic proximity Read ↗

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