Mutation in protein disulfide isomerase A3 causes neurodevelopmental defects by disturbing endoplasmic reticulum proteostasis
蛋白质二硫键异构酶A3的突变会扰乱内质网蛋白质稳态，从而导致神经发育缺陷。
期刊:EMBO Journal
影响因子:8.3
doi:10.15252/embj.2020105531
Bilches Medinas, Danilo; Malik, Sajid; Yıldız-Bölükbaşı, Esra; Borgonovo, Janina; Saaranen, Mirva J; Urra, Hery; Pulgar, Eduardo; Afzal, Muhammad; Contreras, Darwin; Wright, Madison T; Bodaleo, Felipe; Quiroz, Gabriel; Rozas, Pablo; Mumtaz, Sara; Díaz, Rodrigo; Rozas, Carlos; Cabral-Miranda, Felipe; Piña, Ricardo; Valenzuela, Vicente; Uyan, Ozgun; Reardon, Christopher; Woehlbier, Ute; Brown, Robert H; Sena-Esteves, Miguel; Gonzalez-Billault, Christian; Morales, Bernardo; Plate, Lars; Ruddock, Lloyd W; Concha, Miguel L; Hetz, Claudio; Tolun, Aslıhan
