Loss of the sphingolipid desaturase DEGS1 causes hypomyelinating leukodystrophy
鞘脂去饱和酶DEGS1的缺失会导致髓鞘形成不足性脑白质营养不良
期刊:Journal of Clinical Investigation
影响因子:13.6
doi:10.1172/JCI123959
Pant, Devesh C; Dorboz, Imen; Schluter, Agatha; Fourcade, Stéphane; Launay, Nathalie; Joya, Javier; Aguilera-Albesa, Sergio; Yoldi, Maria Eugenia; Casasnovas, Carlos; Willis, Mary J; Ruiz, Montserrat; Ville, Dorothée; Lesca, Gaetan; Siquier-Pernet, Karine; Desguerre, Isabelle; Yan, Huifang; Wang, Jingmin; Burmeister, Margit; Brady, Lauren; Tarnopolsky, Mark; Cornet, Carles; Rubbini, Davide; Terriente, Javier; James, Kiely N; Musaev, Damir; Zaki, Maha S; Patterson, Marc C; Lanpher, Brendan C; Klee, Eric W; Pinto E Vairo, Filippo; Wohler, Elizabeth; Sobreira, Nara Lygia de M; Cohen, Julie S; Maroofian, Reza; Galehdari, Hamid; Mazaheri, Neda; Shariati, Gholamreza; Colleaux, Laurence; Rodriguez, Diana; Gleeson, Joseph G; Pujades, Cristina; Fatemi, Ali; Boespflug-Tanguy, Odile; Pujol, Aurora