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

Pathogenic PDE12 variants impair mitochondrial RNA processing causing neonatal mitochondrial disease

致病性 PDE12 变异会损害线粒体 RNA 处理,从而导致新生儿线粒体疾病

Lindsey Van Haute, Petra Páleníková, Jia Xin Tang, Pavel A Nash, Mariella T Simon, Angela Pyle, Monika Oláhová, Christopher A Powell, Pedro Rebelo-Guiomar, Alexander Stover, Michael Champion, Charulata Deshpande, Emma L Baple, Karen L Stals, Sian Ellard, Olivia Anselem, Clémence Molac, Giulia Petril

COA5 has an essential role in the early stage of mitochondrial complex IV assembly

COA5 在线粒体复合物IV组装的早期阶段起着至关重要的作用

Jia Xin Tang, Alfredo Cabrera-Orefice, Jana Meisterknecht, Lucie S Taylor, Geoffray Monteuuis, Maria Ekman Stensland, Adam Szczepanek, Karen Stals, James Davison, Langping He, Sila Hopton, Tuula A Nyman, Christopher B Jackson, Angela Pyle, Monika Winter, Ilka Wittig, Robert W Taylor

Variant load of mitochondrial DNA in single human mesenchymal stem cells

单个人类间充质干细胞中线粒体 DNA 的变异负荷

Daniel Hipps, Angela Pyle, Anna L R Porter, Philip F Dobson, Helen Tuppen, Conor Lawless, Oliver M Russell, Doug M Turnbull, David J Deehan, Gavin Hudson

Nanobiopsy investigation of the subcellular mtDNA heteroplasmy in human tissues

人体组织中亚细胞线粒体DNA异质体的纳米活检研究

Alexander Bury, Angela Pyle, Amy E Vincent, Paolo Actis, Gavin Hudson

Two type I topoisomerases maintain DNA topology in human mitochondria

两种I型拓扑异构酶维持人类线粒体中的DNA拓扑结构

Katja E Menger ,James Chapman ,Héctor Díaz-Maldonado ,Mushtaq M Khazeem ,Dasha Deen ,Direnis Erdinc ,John W Casement ,Valeria Di Leo ,Angela Pyle ,Alejandro Rodríguez-Luis ,Ian G Cowell ,Maria Falkenberg ,Caroline A Austin ,Thomas J Nicholls

A subcellular cookie cutter for spatial genomics in human tissue

人体组织空间基因组学的亚细胞饼干切割器

Alexander G Bury, Angela Pyle, Fabio Marcuccio, Doug M Turnbull, Amy E Vincent, Gavin Hudson, Paolo Actis

Pathogenic SLC25A26 variants impair SAH transport activity causing mitochondrial disease

致病性 SLC25A26 变异会损害 SAH 运输活性,从而导致线粒体疾病

Florian A Schober, Jia Xin Tang, Kate Sergeant, Marco F Moedas, Charlotte M Zierz, David Moore, Conrad Smith, David Lewis, Nishan Guha, Sila Hopton, Gavin Falkous, Amanda Lam, Angela Pyle, Joanna Poulton, Gráinne S Gorman, Robert W Taylor, Christoph Freyer, Anna Wredenberg

Mitochondrial DNA Damage and Brain Aging in Human Immunodeficiency Virus

线粒体DNA损伤与人类免疫缺陷病毒引起的脑衰老

Carla Roca-Bayerri,Fiona Robertson,Angela Pyle,Gavin Hudson,Brendan A I Payne

Age-associated mitochondrial DNA mutations cause metabolic remodelling that contributes to accelerated intestinal tumorigenesis

与年龄相关的线粒体 DNA 突变引起代谢重塑,从而加速肠道肿瘤发生

Anna Lm Smith #, Julia C Whitehall #, Carla Bradshaw, David Gay, Fiona Robertson, Alasdair P Blain, Gavin Hudson, Angela Pyle, David Houghton, Matthew Hunt, James N Sampson, Craig Stamp, Grace Mallett, Shoba Amarnath, Jack Leslie, Fiona Oakley, Laura Wilson, Angela Baker, Oliver M Russell, Riem John

Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency

代谢转变是可逆性婴儿呼吸链缺陷恢复的基础

Denisa Hathazi #, Helen Griffin #, Matthew J Jennings #, Michele Giunta #, Christopher Powell, Sarah F Pearce, Benjamin Munro, Wei Wei, Veronika Boczonadi, Joanna Poulton, Angela Pyle, Claudia Calabrese, Aurora Gomez-Duran, Ulrike Schara, Robert D S Pitceathly, Michael G Hanna, Kairit Joost, Ana Cot