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

Loss of the Mitochondrial Fatty Acid β-Oxidation Protein Medium-Chain Acyl-Coenzyme A Dehydrogenase Disrupts Oxidative Phosphorylation Protein Complex Stability and Function

线粒体脂肪酸 β-氧化蛋白中链酰基辅酶 A 脱氢酶的缺失会破坏氧化磷酸化蛋白复合物的稳定性和功能

Sze Chern Lim, Makiko Tajika, Masaru Shimura, Kirstyn T Carey, David A Stroud, Kei Murayama, Akira Ohtake, Matthew McKenzie

A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome

PET100 的创始突变导致患有 Leigh 综合征的黎巴嫩患者出现单独的复合物 IV 缺陷

Sze Chern Lim, Katherine R Smith, David A Stroud, Alison G Compton, Elena J Tucker, Ayan Dasvarma, Luke C Gandolfo, Justine E Marum, Matthew McKenzie, Heidi L Peters, David Mowat, Peter G Procopis, Bridget Wilcken, John Christodoulou, Garry K Brown, Michael T Ryan, Melanie Bahlo, David R Thorburn

Mutations in LYRM4, encoding iron-sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes

LYRM4 基因突变(编码铁硫簇生物合成因子 ISD11)导致多种呼吸链复合物缺乏

Sze Chern Lim, Martin Friemel, Justine E Marum, Elena J Tucker, Damien L Bruno, Lisa G Riley, John Christodoulou, Edwin P Kirk, Avihu Boneh, Christine M DeGennaro, Michael Springer, Vamsi K Mootha, Tracey A Rouault, Silke Leimkühler, David R Thorburn, Alison G Compton

Molecular diagnosis of infantile mitochondrial disease with targeted next-generation sequencing

利用靶向新一代测序技术对婴儿线粒体疾病进行分子诊断

Sarah E Calvo, Alison G Compton, Steven G Hershman, Sze Chern Lim, Daniel S Lieber, Elena J Tucker, Adrienne Laskowski, Caterina Garone, Shangtao Liu, David B Jaffe, John Christodoulou, Janice M Fletcher, Damien L Bruno, Jack Goldblatt, Salvatore Dimauro, David R Thorburn, Vamsi K Mootha