Desai, Radha; Frazier, Ann E.; Durigon, Romina; Patel, Harshil; Jones, Aleck W.; Rosa, Ilaria Dalla; Lake, Nicole J.; Compton, Alison G.; Mountford, Hayley S.; Tucker, Elena J.; Mitchell, Alice L. R.; Jackson, Deborah; Sesay, Abdul; Di Re, Miriam; van den Heuvel, Lambert P.; Burke, Derek; Francis, David; Lunke, Sebastian; McGillivray, George; Mandelstam, Simone; Mochel, Fanny; Keren, Boris; Jardel, Claude; Turner, Anne M.; Andrews, P. Ian; Smeitink, Jan; Spelbrink, Johannes N.; Heales, Simon J.; Kohda, Masakazu; Ohtake, Akira; Murayama, Kei; Okazaki, Yasushi; Lombes, Anne; Holt, Ian J.; Thorburn, David R.; Spinazzola, Antonella

A homozygous missense mutation in ERAL1, encoding a mitochondrial rRNA chaperone, causes Perrault syndrome

HUMAN MOLECULAR GENETICS

IF3.2

2017-04-2567

OAAI

Three-Dimensional Analysis of Human Mitochondrial Replicative Helicase Twinkle

BIOPHYSICAL JOURNAL

IF3.1

2017-02-010

OAAI

TCA Cycle and Mitochondrial Membrane Potential Are Necessary for Diverse Biological Functions

TCA循环和线粒体膜电位是多种生物学功能所必需的

MOLECULAR CELL

IF16.6

2016-01-01420

Human Mitochondrial DNA-Protein Complexes Attach to a Cholesterol-Rich Membrane Structure (vol 5, 15292, 2015)

SCIENTIFIC REPORTS

IF3.9

2015-12-143

OAAI

Human Mitochondrial DNA-Protein Complexes Attach to a Cholesterol-Rich Membrane Structure

SCIENTIFIC REPORTS

IF3.9

2015-10-1986

OAAI

The hexameric structure of the human mitochondrial replicative helicase Twinkle

NUCLEIC ACIDS RESEARCH

IF13.1

2015-03-3039

OAAI

The multikinase inhibitor Sorafenib enhances glycolysis and synergizes with glycolysis blockade for cancer cell killing

SCIENTIFIC REPORTS

IF3.9

2015-03-1773

OAAI

CLPB Mutations Cause 3-Methylglutaconic Aciduria, Progressive Brain Atrophy, Intellectual Disability, Congenital Neutropenia, Cataracts, Movement Disorder

CLPB突变导致3-甲基戊二酸尿症、进行性脑萎缩、智力残疾、先天性中性粒细胞减少症、白内障、运动障碍

AMERICAN JOURNAL OF HUMAN GENETICS

IF8.1

2015-02-01101

OAAI

Wortmann, Saskia B.; Zietkiewicz, Szymon; Kousi, Maria; Szklarczyk, Radek; Haack, Tobias B.; Gersting, Soren W.; Muntau, Ania C.; Rakovic, Aleksandar; Renkema, G. Herma; Rodenburg, Richard J.; Strom, Tim M.; Meitinger, Thomas; Rubio-Gozalbo, M. Estela; Chrusciel, Elzbieta; Distelmaier, Felix; Golzio, Christelle; Jansen, Joop H.; van Karnebeek, Clara; Lillquist, Yolanda; Luecke, Thomas; Ounap, Katrin; Zordania, Riina; Yaplito-Lee, Joy; van Bokhoven, Hans; Spelbrink, Johannes N.; Vaz, Frederic M.; Pras-Raves, Mia; Ploski, Rafal; Pronicka, Ewa; Klein, Christine; Willemsen, Michel A. A. P.; de Brouwer, Arjan P. M.; Prokisch, Holger; Katsanis, Nicholas; Wevers, Ron A.

DNA Sequences Proximal to Human Mitochondrial DNA Deletion Breakpoints Prevalent in Human Disease Form G-quadruplexes, a Class of DNA Structures Inefficiently Unwound by the Mitochondrial Replicative Twinkle Helicase

人类疾病中普遍存在的人类线粒体DNA缺失断点附近的DNA序列形成G-四链体，这是一类由线粒体复制性闪烁解旋酶无法有效解开的DNA结构

JOURNAL OF BIOLOGICAL CHEMISTRY

IF3.9

2014-10-01118

OAAI

Quality matters: how does mitochondrial network dynamics and quality control impact on mtDNA integrity?

质量问题: 线粒体网络动力学和质量控制如何影响mtDNA完整性？

PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES

IF4.7

2014-07-0570

OAAI