Article

Unveiling the evolutionary code of NOTCH3: mammalian bioinformatics sheds light on human pathogenicity.

2025-09-29

Abstract excerpt

NOTCH3 is a highly conserved transmembrane receptor implicated in CADASIL, a hereditary small vessel disease driven by mutations in its extracellular EGF-like repeats. The mechanism by which these mutations cause pathology remains unclear. We present the first large-scale comparative bioinformatic analysis of NOTCH3 across 113 mammalian species, uncovering three novel insights: i) a remarkable evolutionary conserv...

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Literature Corpus work: e680068a-9667-5bcc-8966-651c98025a08
DOI: 10.1101/2025.09.28.678708

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