Contribution of SUN1 Mutations to the Pathomechanism in Muscular Dystrophies. Issue 4 (13th January 2014)

• Record Type: Journal Article
• Authors: Li, Ping; Meinke, Peter; Huong, Le Thi Thanh; Wehnert, Manfred; Noegel, Angelika A.
• Is Part Of: Human mutation. Volume 35:Issue 4(2014:Apr.)
• Page Start: 452
• Page End: 461
• Publication Date: 2014-01-13
• Subjects: Human chromosome abnormalities -- Periodicals; Mutation (Biology) -- Periodicals; 616.04205
• DOI: 10.1002/humu.22504
• Languages: English
• ISSNs: 1059-7794

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="humu22504-abs-0001"> <title> <x xml:space="preserve">Abstract</x> </title> <p>We characterize fibroblasts from muscular dystrophy patients with mutations in the nuclear proteins emerin and LAP2alpha in combination with SUN1 mutations and identify changes in cell size, proliferation, centrosome positioning, senescence, and cell migration. At the biochemical level the SUN1 mutations affect the interaction with lamin A/C and emerin. This affects the tested cellular properties. We conclude that the presence of two faulty nuclear genes associated with maintaining nuclear envelope structure and function produces both a more severe cellular and clinical phenotype. <boxed-text content-type="graphic" position="anchor" orientation="portrait"><graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pgg4sxjtjkp" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></boxed-text></p> </abstract>