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Article

A recurrent Gly43Asp substitution in coagulation Factor X rigidifies its catalytic pocket and impairs catalytic activity and intracellular trafficking.

Thrombosis research - 1 Mar 2014

Menegatti Marzia, Vangone Anna, Palla Roberta, Milano Giuseppe, Cavallo Luigi, Oliva Romina, De Cristofaro Raimondo, Peyvandi Flora

Abstract excerpt

Factor X (FX) deficiency is one of the most severe among recessively inherited coagulation disorders. The homozygous Gly222Asp mutation (Gly43Asp in the chymotrypsinogen numbering) on the FX gene was found in fifteen patients with severe FX deficiency (FX:C <1%). The Gly(43) residue is located at the highly conserved 42-58 residues region shared among all trypsinogen-like proteins. In vitro expression studies...

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PMID: 24393662
DOI: 10.1016/j.thromres.2013.12.020

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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