日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:

ADCK4 mutations promote steroid-resistant nephrotic syndrome through CoQ10 biosynthesis disruption

ADCK4 突变通过干扰 CoQ10 生物合成促进类固醇耐药性肾病综合征

Shazia Ashraf, Heon Yung Gee, Stephanie Woerner, Letian X Xie, Virginia Vega-Warner, Svjetlana Lovric, Humphrey Fang, Xuewen Song, Daniel C Cattran, Carmen Avila-Casado, Andrew D Paterson, Patrick Nitschké, Christine Bole-Feysot, Pierre Cochat, Julian Esteve-Rudd, Birgit Haberberger, Susan J Allen, 

Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome

线粒体蛋白酰基甘油激酶的缺乏会导致森格斯综合征。

Johannes A Mayr ,Tobias B Haack, Elisabeth Graf, Franz A Zimmermann, Thomas Wieland, Birgit Haberberger, Andrea Superti-Furga, Janbernd Kirschner, Beat Steinmann, Matthias R Baumgartner, Isabella Moroni, Eleonora Lamantea, Massimo Zeviani, Richard J Rodenburg, Jan Smeitink, Tim M Strom, Thomas Meitinger, Wolfgang Sperl, Holger Prokisch