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Article

Analysis of several endoglin mutants reveals no endogenous mature or secreted protein capable of interfering with normal endoglin function.

Human molecular genetics - 15 Jun 2001

Paquet M E, Pece-Barbara N, Vera S, Cymerman U, Karabegovic A, Shovlin C, Letarte M

Abstract excerpt

Hereditary hemorrhagic telangiectasia type 1 (HHT1) is associated with mutations in the ENDOGLIN gene which normally codes for a polypeptide of 653 amino acids expressed at the cell surface as a dimeric glycoprotein. To maximize the detection of potential mutant proteins, we analyzed by pulse-chase experiments the expression of large truncation mutants in endothelial cells from newborns with HHT1. A mutant...

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Identifiers

PMID: 11440987
DOI: 10.1093/hmg/10.13.1347

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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Analysis of several endoglin mutants reveals no endogenous mature or secreted protein capable of interfering with normal endoglin function.PMID 11440987Read ↗

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