Altered chaperone-nonmuscle myosin II interactions drive pathogenicity of the UNC45A c.710T>C variant in osteo-oto-hepato-enteric syndrome.
改变的分子伴侣-非肌肉肌球蛋白 II 相互作用驱动了 UNC45A c.710T>C 变异在骨-耳-肝-肠综合征中的致病性
期刊:JCI Insight
影响因子:6.1
doi:10.1172/jci.insight.185508
Waich Stephanie, Kreidl Karin, Vodopiutz Julia, Demir Arzu Meltem, Pollio Adam R, Dostál VojtÄch, Pfaller Kristian, Parlato Marianna, Cerf-Bensussan Nadine, Adam Rüdiger, Vogel Georg F, Uhlig Holm H, Ruemmele Frank M, Müller Thomas, Hess Michael W, Janecke Andreas R, Huber Lukas A, Valovka Taras
