TMX2 Is a Crucial Regulator of Cellular Redox State, and Its Dysfunction Causes Severe Brain Developmental Abnormalities
TMX2是细胞氧化还原状态的关键调节因子,其功能障碍会导致严重的大脑发育异常。
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2019.10.009
Laura V Vandervore ,Rachel Schot ,Chiara Milanese ,Daphne J Smits ,Esmee Kasteleijn ,Andrew E Fry ,Daniela T Pilz ,Stefanie Brock ,Esra Börklü-Yücel ,Marco Post ,Nadia Bahi-Buisson ,María José Sánchez-Soler ,Marjon van Slegtenhorst ,Boris Keren ,Alexandra Afenjar ,Stephanie A Coury ,Wen-Hann Tan ,Renske Oegema ,Linda S de Vries ,Katherine A Fawcett ,Peter G J Nikkels ,Aida Bertoli-Avella ,Amal Al Hashem ,Abdulmalik A Alwabel ,Kalthoum Tlili-Graiess ,Stephanie Efthymiou ,Faisal Zafar ,Nuzhat Rana ,Farah Bibi ,Henry Houlden ,Reza Maroofian ,Richard E Person ,Amy Crunk ,Juliann M Savatt ,Lisbeth Turner ,Mohammad Doosti ,Ehsan Ghayoor Karimiani ,Nebal Waill Saadi ,Javad Akhondian ,Maarten H Lequin ,Hülya Kayserili ,Peter J van der Spek ,Anna C Jansen ,Johan M Kros ,Robert M Verdijk ,Nataša Jovanov Milošević ,Maarten Fornerod ,Pier Giorgio Mastroberardino ,Grazia M S Mancini