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

Correction of pathogenic mitochondrial DNA in patient-derived disease models using mitochondrial base editors

利用线粒体碱基编辑器校正患者来源疾病模型中的致病性线粒体DNA

Indi P Joore ,Sawsan Shehata ,Irena Muffels ,Jose Castro-Alpízar ,Elena Jiménez-Curiel ,Emilia Nagyova ,Natacha Levy ,Ziqin Tang ,Kimberly Smit ,Wilbert P Vermeij ,Richard Rodenburg ,Raymond Schiffelers ,Edward E S Nieuwenhuis ,Peter M van Hasselt ,Sabine A Fuchs ,Martijn A J Koppens

Imaging flow cytometry reveals divergent mitochondrial phenotypes in mitochondrial disease patients

成像流式细胞术揭示线粒体疾病患者中不同的线粒体表型

Irena J J Muffels ,Richard Rodenburg ,Hanneke L D Willemen ,Désirée van Haaften-Visser ,Hans Waterham ,Niels Eijkelkamp ,Sabine A Fuchs ,Peter M van Hasselt

Human SIRT5 variants with reduced stability and activity do not cause neuropathology in mice

稳定性和活性降低的人类SIRT5变体不会引起小鼠神经病理学改变。

Taolin Yuan ,Surinder Kumar ,Mary E Skinner ,Ryan Victor-Joseph ,Majd Abuaita ,Jaap Keijer ,Jessica Zhang ,Thaddeus J Kunkel ,Yanghan Liu ,Elyse M Petrunak ,Thomas L Saunders ,Andrew P Lieberman ,Jeanne A Stuckey ,Nouri Neamati ,Fathiya Al-Murshedi ,Majid Alfadhel ,Johannes N Spelbrink ,Richard Rodenburg ,Vincent C J de Boer ,David B Lombard

m.3243A > G-Induced Mitochondrial Dysfunction Impairs Human Neuronal Development and Reduces Neuronal Network Activity and Synchronicity

m.3243A > G 诱导的线粒体功能障碍会损害人类神经元发育并降低神经元网络活动和同步性

Teun M Klein Gunnewiek, Eline J H Van Hugte, Monica Frega, Gemma Solé Guardia, Katharina Foreman, Daan Panneman, Britt Mossink, Katrin Linda, Jason M Keller, Dirk Schubert, David Cassiman, Richard Rodenburg, Noemi Vidal Folch, Devin Oglesbee, Ester Perales-Clemente, Timothy J Nelson, Eva Morava, Nae

Identification and Characterization of New Variants in FOXRED1 Gene Expands the Clinical Spectrum Associated with Mitochondrial Complex I Deficiency

FOXRED1 基因新变异的鉴定和表征扩大了与线粒体复合物 I 缺乏症相关的临床谱

Sofia Barbosa-Gouveia, Emiliano González-Vioque, Filipa Borges, Luis Gutiérrez-Solana, Liesbeth Wintjes, Antonia Kappen, Lambert van den Heuvel, Rosaura Leis, Richard Rodenburg, María Luz Couce