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

PGM1 deficiency is linked to sarcomeric and mitochondrial dysfunction in patient-derived iPSC-cardiomyocytes

PGM1 缺乏与患者来源的 iPSC 心肌细胞的肌节和线粒体功能障碍有关

Radenkovic, Silvia; Preston, Graeme; Budhraja, Rohit; Muffels, Irena; Ligezka, Anna; Staff, Nathan P; Hrstka, Ron; Balakrishnan, Bijina; Shah, Rameen; Verberkmoes, Sanne; Shammas, Ibrahim; Bosnyak, Inez; Stiers, Kyle M; Lai, Kent; Beamer, Lesa J; Pandey, Akhilesh; Morava, Eva; Kozicz, Tamas

Imaging flow cytometry-based cellular screening elucidates pathophysiology in individuals with Variants of Uncertain Significance

基于成像流式细胞术的细胞筛查阐明了具有意义未明变异的个体的病理生理学

Muffels, Irena Josephina Johanna; Waterham, Hans R; D'Alessandro, Giuseppina; Zagnoli-Vieira, Guido; Sacher, Michael; Lefeber, Dirk J; Van der Vinne, Celine; Roifman, Chaim M; Gassen, Koen L I; Rehmann, Holger; Van Haaften-Visser, Desiree Y; Nieuwenhuis, Edward S S; Jackson, Stephen P; Fuchs, Sabine A; Wijk, Femke; van Hasselt, Peter

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

Are viral vector-mediated therapies compatible with aberrant glycosylation?

病毒载体介导的疗法是否与异常糖基化兼容?

Muffels, I J J; Budhraja, R; Radenkovic, S; Shah, R; Pandey, A; Morava, E; Kozicz, T

LIMK1 variants are associated with divergent endocrinological phenotypes and altered exocytosis dynamics

LIMK1 变异与不同的内分泌表型和改变的胞吐动力学相关。

Irena J J Muffels ,Theodore Carter ,Holger Rehmann ,Sebastiaan J Vastert ,Annemarie A Verrijn Stuart ,Andreas C Blank ,Aurore Garde ,Bert van der Zwaag ,Iris M De Lange ,Jacques C Giltay ,Koen L I van Gassen ,Klaas Koop ,Cedric S Asensio ,Peter M van Hasselt

Setting the Stage for Treatment of Aminoacyl-tRNA Synthetase (ARS)1-Deficiencies: Phenotypic Characterization and a Review of Treatment Effects

为氨酰tRNA合成酶(ARS)1缺乏症的治疗奠定基础:表型特征及治疗效果综述

Hoytema van Konijnenburg, Eva M M; Rohof, Joline; Kok, Gautam; van Hasselt, Peter M; van Karnebeek, Clara D; Muffels, Irena J J; Fuchs, Sabine A

Predicting disease-overarching therapeutic approaches for congenital disorders of glycosylation using multi-OMICS

利用多组学预测先天性糖基化障碍的总体治疗方法

Muffels, I J J; Budhraja, R; Shah, R; Radenkovic, S; Morava, E; Kozicz, T

Relationships Between Metabolism of Cryopreserved Equine Sperm Determined by the Seahorse Analyzer and Sperm Characteristics Measured by Flow Cytometry and Computer-Assisted Analysis of Motility

利用海马分析仪测定的冷冻保存马精子代谢与流式细胞术和计算机辅助运动分析测定的精子特征之间的关系

Strassner, Fokko Mathias; Demattio, Lukas; Siuda, Mathias; Malama, Eleni; Muffels, Gérard; Bollwein, Heinrich

Mono-allelic p.R37H Dehydrodolichyl Diphosphate Synthase variants lead to protein glycosylation defects, aberrant lipid profiles and interneuron scarcity in a novel mouse model of progressive epileptic encephalopathy

单等位基因 p.R37H 脱氢多萜醇二磷酸合成酶变体导致进行性癫痫性脑病的新型小鼠模型出现蛋白质糖基化缺陷、异常脂质谱和中间神经元稀少。

Da Silva, Afitz; Tene Tadoum, Samuel Boris; Muffels, Irena J J; Budhraja, Rohit; Sturiale, Luisa; Messina, Angela; Giladi, Moshe; Taherzadeh, Mahsa; Fazeli, Mehrnaz; Bonneil, Éric; Khan, Shaukat; Te Vruchte, Danielle; Yamanaka, Yojiro; Di Cristo, Graziella; Hamdan, Fadi F; Platt, Frances M; Tomatsu, Shunji; Haitin, Yoni; Kozicz, Tamas; Thibault, Pierre; Garozzo, Domenico; Pandey, Akilesh; Morava, Eva; Rossignol, Elsa; Pshezhetsky, Alexey V

Deciphering the Glycoproteomic Landscape of Mood Disorders: Unveiling Molecular Association Between CDG and Depression Resilience

解读情绪障碍的糖蛋白组学图谱:揭示CDG与抑郁症复原力之间的分子关联

Kozicz, Tamas; Budhraja, Rohit; Preston, Graeme; Joshi, Neha; Muffels, Irena; Turecki, Gustavo; Frye, Mark; Veldic, Marin; Morava, Eva; Pandey, Akhilesh