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

Biallelic PTPMT1 variants disrupt cardiolipin metabolism and lead to a neurodevelopmental syndrome

双等位基因 PTPMT1 变异会破坏心磷脂代谢并导致神经发育综合征

Micol Falabella, Chiara Pizzamiglio, Luis Carlos Tabara, Benjamin Munro, Mohamed S Abdel-Hamid, Ece Sonmezler, William L Macken, Shanti Lu, Lisa Tilokani, Padraig J Flannery, Nina Patel, Simon A S Pope, Simon J R Heales, Dania B H Hammadi, Charlotte L Alston, Robert W Taylor, Hanns Lochmuller, Cathy

Mitochondrial aminoacyl-tRNA synthetases trigger unique compensatory mechanisms in neurons

线粒体氨酰-tRNA合成酶触发神经元独特的补偿机制

Oliver Podmanicky, Fei Gao, Benjamin Munro, Matthew J Jennings, Veronika Boczonadi, Denisa Hathazi, Juliane S Mueller, Rita Horvath

TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease

TEFM 变异会损害线粒体转录,导致儿童期神经系统疾病

Lindsey Van Haute #, Emily O'Connor #, Héctor Díaz-Maldonado #, Benjamin Munro #, Kiran Polavarapu, Daniella H Hock, Gautham Arunachal, Alkyoni Athanasiou-Fragkouli, Mainak Bardhan, Magalie Barth, Dominique Bonneau, Nicola Brunetti-Pierri, Gerarda Cappuccio, Nikeisha J Caruana, Natalia Dominik, Hima

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

RNA exosome mutations in pontocerebellar hypoplasia alter ribosome biogenesis and p53 levels

小脑桥脑发育不全中的 RNA 外泌体突变改变核糖体的生物合成和 p53 水平

Juliane S Müller, David T Burns, Helen Griffin, Graeme R Wells, Romance A Zendah, Benjamin Munro, Claudia Schneider, Rita Horvath

Nucleoside supplementation modulates mitochondrial DNA copy number in the dguok -/- zebrafish

核苷补充调节 dguok -/- 斑马鱼的线粒体 DNA 拷贝数

Benjamin Munro, Rita Horvath, Juliane S Müller

Variants in EXOSC9 Disrupt the RNA Exosome and Result in Cerebellar Atrophy with Spinal Motor Neuronopathy

EXOSC9 变异会破坏 RNA 外泌体,导致小脑萎缩和脊髓运动神经元病

David T Burns, Sandra Donkervoort, Juliane S Müller, Ellen Knierim, Diana Bharucha-Goebel, Eissa Ali Faqeih, Stephanie K Bell, Abdullah Y AlFaifi, Dorota Monies, Francisca Millan, Kyle Retterer, Sarah Dyack, Sara MacKay, Susanne Morales-Gonzalez, Michele Giunta, Benjamin Munro, Gavin Hudson, Mena Sc