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

The catechol moiety of obafluorin is essential for antibacterial activity

奥巴氟林的儿茶酚部分对于抗菌活性至关重要

Sibyl F D Batey, Melissa J Davie, Edward S Hems, Jonathon D Liston, Thomas A Scott, Silke Alt, Christopher S Francklyn, Barrie Wilkinson

Neuropathy-associated histidyl-tRNA synthetase variants attenuate protein synthesis in vitro and disrupt axon outgrowth in developing zebrafish

神经病变相关的组氨酰-tRNA 合成酶变体会减弱体外蛋白质合成并破坏发育中的斑马鱼的轴突生长

Patrick Mullen, Jamie A Abbott, Theresa Wellman, Mahafuza Aktar, Christian Fjeld, Borries Demeler, Alicia M Ebert, Christopher S Francklyn

De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects

NARS1 中的新生和双等位基因致病变异会因毒性的功能获得和部分功能丧失效应而导致神经发育迟缓

Andreea Manole, Stephanie Efthymiou, Emer O'Connor, Marisa I Mendes, Matthew Jennings, Reza Maroofian, Indran Davagnanam, Kshitij Mankad, Maria Rodriguez Lopez, Vincenzo Salpietro, Ricardo Harripaul, Lauren Badalato, Jagdeep Walia, Christopher S Francklyn, Alkyoni Athanasiou-Fragkouli, Roisin Sulliv

Bi-allelic mutations in HARS1 severely impair histidyl-tRNA synthetase expression and enzymatic activity causing a novel multisystem ataxic syndrome

HARS1基因的双等位基因突变会严重损害组氨酰tRNA合成酶的表达和酶活性,从而导致一种新型的多系统共济失调综合征。

Galatolo, Daniele; Kuo, Molly E; Mullen, Patrick; Meyer-Schuman, Rebecca; Doccini, Stefano; Battini, Roberta; Lieto, Maria; Tessa, Alessandra; Filla, Alessandro; Francklyn, Christopher; Antonellis, Anthony; Santorelli, Filippo M

Knock-Down of Histidyl-tRNA Synthetase Causes Cell Cycle Arrest and Apoptosis of Neuronal Progenitor Cells in vivo

组氨酰-tRNA 合成酶的敲低导致体内细胞周期停滞和神经元祖细胞凋亡

Ashley Waldron, Claire Wilcox, Christopher Francklyn, Alicia Ebert

Progress and challenges in aminoacyl-tRNA synthetase-based therapeutics

基于氨酰tRNA合成酶的疗法的进展与挑战

Francklyn, Christopher S; Mullen, Patrick

Peripheral neuropathy and cognitive impairment associated with a novel monoallelic HARS variant

一种新型单等位基因HARS变异体相关的周围神经病变和认知障碍

Royer-Bertrand, Béryl; Tsouni, Pinelopi; Mullen, Patrick; Campos Xavier, Belinda; Mittaz Crettol, Lauréane; Lobrinus, Alexander J; Ghika, Joseph; Baumgartner, Matthias R; Rivolta, Carlo; Superti-Furga, Andrea; Kuntzer, Thierry; Francklyn, Christopher; Tran, Christel

11th IUBMB Focused Meeting on the Aminoacyl-tRNA Synthetases: Sailing a New Sea of Complex Functions in Human Biology and Disease

第十一届国际生物化学与分子生物学联合会(IUBMB)氨酰tRNA合成酶专题会议:探索人类生物学和疾病中复杂功能的新领域

Francklyn, Christopher; Roy, Herve; Alexander, Rebecca

Substrate interaction defects in histidyl-tRNA synthetase linked to dominant axonal peripheral neuropathy

组氨酰-tRNA合成酶底物相互作用缺陷与显性轴突周围神经病变相关

Abbott, Jamie A; Meyer-Schuman, Rebecca; Lupo, Vincenzo; Feely, Shawna; Mademan, Inès; Oprescu, Stephanie N; Griffin, Laurie B; Alberti, M Antonia; Casasnovas, Carlos; Aharoni, Sharon; Basel-Vanagaite, Lina; Züchner, Stephan; De Jonghe, Peter; Baets, Jonathan; Shy, Michael E; Espinós, Carmen; Demeler, Borries; Antonellis, Anthony; Francklyn, Christopher

The Usher Syndrome Type IIIB Histidyl-tRNA Synthetase Mutation Confers Temperature Sensitivity

Usher 综合征 IIIB 型组氨酰-tRNA 合成酶突变导致温度敏感性

Jamie A Abbott, Ethan Guth, Cindy Kim, Cathy Regan, Victoria M Siu, C Anthony Rupar, Borries Demeler, Christopher S Francklyn, Susan M Robey-Bond