Proteasome-mediated degradation of keratins 7, 8, 17 and 18 by mutant KLHL24 in a foetal keratinocyte model: Novel insight in congenital skin defects and fragility of epidermolysis bullosa simplex with cardiomyopathy
在胎儿角质形成细胞模型中,突变型KLHL24通过蛋白酶体介导降解角蛋白7、8、17和18:对先天性皮肤缺陷和伴有心肌病的单纯性大疱性表皮松解症脆弱性的新见解
期刊:Human Molecular Genetics
影响因子:3.2
doi:10.1093/hmg/ddab318
Logli, Elena; Marzuolo, Elisa; D'Agostino, Marco; Conti, Libenzio Adrian; Lena, Anna Maria; Diociaiuti, Andrea; Dellambra, Elena; Has, Cristina; Cianfanelli, Valentina; Zambruno, Giovanna; El Hachem, May; Magenta, Alessandra; Candi, Eleonora; Condorelli, Angelo Giuseppe