Article

Extreme Conservation and Rare Evolutionary Deviations in Mammalian NOTCH3 Challenge Current Models of CADASIL Pathogenicity

2026-07-27

Abstract excerpt

NOTCH3 is a highly conserved transmembrane receptor implicated in CADASIL, a hereditary small-vessel disease caused predominantly by mutations affecting its extracellular EGF-like repeats. The mechanisms by which these muta-tions cause pathology remain incompletely understood. We present the first large-scale comparative bioinformatics and molecular dynamics (MD) analysis of NOTCH3 across 113 mammalian species, re...

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Literature Corpus work: 42d8bbe9-a6b8-556c-9db2-43852374f44b
DOI: 10.20944/preprints202607.1941.v1

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