Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28 through haploinsufficiency and proteostatic stress-driven OMA1 activation
AFG3L2蛋白水解结构域的致病性变异通过单倍体不足和蛋白稳态应激驱动的OMA1激活导致SCA28。
期刊:Journal of Medical Genetics
影响因子:3.7
doi:10.1136/jmedgenet-2018-105766
Tulli, Susanna; Del Bondio, Andrea; Baderna, Valentina; Mazza, Davide; Codazzi, Franca; Pierson, Tyler Mark; Ambrosi, Alessandro; Nolte, Dagmar; Goizet, Cyril; Toro, Camilo; Baets, Jonathan; Deconinck, Tine; DeJonghe, Peter; Mandich, Paola; Casari, Giorgio; Maltecca, Francesca