Functional analysis of TLK2 variants and their proximal interactomes implicates impaired kinase activity and chromatin maintenance defects in their pathogenesis
对TLK2变体及其近端相互作用组的功能分析表明,激酶活性受损和染色质维持缺陷与其致病机制有关。
期刊:Journal of Medical Genetics
影响因子:3.7
doi:10.1136/jmedgenet-2020-107281
Pavinato, Lisa; Villamor-Payà, Marina; Sanchiz-Calvo, Maria; Andreoli, Cristina; Gay, Marina; Vilaseca, Marta; Arauz-Garofalo, Gianluca; Ciolfi, Andrea; Bruselles, Alessandro; Pippucci, Tommaso; Prota, Valentina; Carli, Diana; Giorgio, Elisa; Radio, Francesca Clementina; Antona, Vincenzo; Giuffrè, Mario; Ranguin, Kara; Colson, Cindy; De Rubeis, Silvia; Dimartino, Paola; Buxbaum, Joseph D; Ferrero, Giovanni Battista; Tartaglia, Marco; Martinelli, Simone; Stracker, Travis H; Brusco, Alfredo