In Vitro Secretion Deficits are Common Among Human Coagulation Factor XIII Subunit B Missense Mutants: Correlations with Patient Phenotypes and Molecular Models. Issue 11 (13th September 2013)

• Record Type: Journal Article
• Authors: Biswas, Arijit; Thomas, Anne; Bevans, Carville G.; Ivaskevicius, Vytautas; Oldenburg, Johannes
• Is Part Of: Human mutation. Volume 34:Issue 11(2013:Nov.)
• Page Start: 1490
• Page End: 1500
• Publication Date: 2013-09-13
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22391
• Languages: English
• ISSNs: 1059-7794

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="humu22391-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>Pairs of coagulation factor XIII (FXIII) B subunits bound to A dimers prior to activation are thought to possess carrier/protective function. Mutations in either A or B subunits are associated with pathological patient phenotypes of mild to severe bleeding. HEK293T cell expression studies of seven recently identified FXIIIB missense variants revealed impaired in vitro secretion phenotypes. Molecular models of FXIIIB Sushi domains constructed using phylogenetically similar complement factor H Sushi domain templates suggest possible pathological mechanisms. <boxed-text content-type="graphic" position="anchor" orientation="portrait"><graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pgg3j6prmcj" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></boxed-text></p> </abstract>