Impairment of the mitochondrial one-carbon metabolism enzyme SHMT2 causes a novel brain and heart developmental syndrome
线粒体一碳代谢酶SHMT2功能障碍会导致一种新型的脑和心脏发育综合征。
期刊:Acta Neuropathologica
影响因子:9.3
doi:10.1007/s00401-020-02223-w
García-Cazorla, Àngels; Verdura, Edgard; Juliá-Palacios, Natalia; Anderson, Eric N; Goicoechea, Leire; Planas-Serra, Laura; Tsogtbaatar, Enkhtuul; Dsouza, Nikita R; Schlüter, Agatha; Urreizti, Roser; Tarnowski, Jessica M; Gavrilova, Ralitza H; Ruiz, Montserrat; Rodríguez-Palmero, Agustí; Fourcade, Stéphane; Cogné, Benjamin; Besnard, Thomas; Vincent, Marie; Bézieau, Stéphane; Folmes, Clifford D; Zimmermann, Michael T; Klee, Eric W; Pandey, Udai Bhan; Artuch, Rafael; Cousin, Margot A; Pujol, Aurora