Article

Alphafold, Foldseek and MD in NOTCH3 variants: a cohort study

2026-02-25

Abstract excerpt

<h4>Background and Objectives</h4> Notch homolog 3 (NOTCH3) gene variants were fully penetrant to produce the disease phenotype of CADASIL. Aberrant NOTCH3 protein leads to degeneration of vascular SMCs and pericytes, targeting microcirculation dysfunction and blood-brain barrier (BBB) leakage. <h4>Methods</h4> We evaluated neuroimaging data of forty patients with NOTCH3 gene variants including eighteen missen...

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Literature Corpus work: ba87dea3-7550-5421-ab60-e30f37fbdadf
DOI: 10.64898/2026.02.23.26346941

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