Article

PTPN14, a modifier of HHT, protects SMAD4 from ubiquitination and turnover to potentiate BMP9 signaling in endothelial cells

2021-09-30

Abstract excerpt

<h4>ABSTRACT</h4> Hereditary Hemorrhagic Telangiectasia (HHT) results from germline loss-of-function mutations of ENG, ACVRL1 , or SMAD4 , encoding TGFβ/BMP signaling components. Telangiectasias occur in most patients, and pulmonary, visceral, or cerebral arteriovenous malformations (AVMs) in 20-50% of these. How HHT mutations cause these clinical manifestations and why some patients suffer more serious sequela...

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Literature Corpus work: 6ecb99be-5ea5-5c81-86d9-8d43fcb00475
DOI: 10.1101/2021.09.29.462397

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