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

Network Hypoactivity in ALG13-CDG: Disrupted Developmental Pathways and E/I Imbalance as Early Drivers of Neurological Features in CDG

ALG13-CDG中的网络活动减弱:发育通路紊乱和兴奋/抑制失衡是CDG神经系统特征的早期驱动因素

Shah, Rameen; Budhraja, Rohit; Radenkovic, Silvia; Preston, Graeme; King, Alexia Tyler; Sabry, Sahar; Bleukx, Charlotte; Shammas, Ibrahim; Young, Lyndsay; Chandran, Jisha; Byeon, Seul Kee; Hrstka, Ronald; Smith, Doughlas Y 4th; Staff, Nathan P; Drake, Richard; Sloan, Steven A; Pandey, Akhilesh; Morava, Eva; Kozicz, Tamas

Distinct immunometabolic signatures in circulating immune cells define disease outcome in acute-on-chronic liver failure

循环免疫细胞中独特的免疫代谢特征决定了急性加重型慢性肝衰竭的疾病预后。

Feio-Azevedo, Rita; Boesch, Markus; Radenkovic, Silvia; van Melkebeke, Lukas; Smets, Lena; Wallays, Marie; Boeckx, Bram; Philips, Gino; Prata de Oliveira, Janaíne; Ghorbani, Mohammad; Laleman, Wim; Meersseman, Philippe; Wilmer, Alexander; Cassiman, David; van Malenstein, Hannah; Triantafyllou, Evangelos; Sánchez, Cristina; Aguilar, Ferran; Nevens, Frederik; Verbeek, Jef; Moreau, Richard; Arroyo, Vicente; Denadai Souza, Alexandre; Clària, Joan; Lambrechts, Diether; Ghesquière, Bart; Korf, Hannelie; van der Merwe, Schalk

Complex Metabolomic Changes in a Combined Defect of Glycosylation and Oxidative Phosphorylation in a Patient with Pathogenic Variants in PGM1 and NDUFA13

PGM1和NDUFA13致病变异患者糖基化和氧化磷酸化联合缺陷的复杂代谢组学变化

Radenkovic, Silvia; Adant, Isabelle; Bird, Matthew J; Swinnen, Johannes V; Cassiman, David; Kozicz, Tamas; Gruenert, Sarah C; Ghesquière, Bart; Morava, Eva

Rethinking Newborn Screening: A Case of GALM Deficiency

重新思考新生儿筛查:GALM 缺陷病例

van Konijnenburg, Eva M M Hoytema; Radenkovic, Silvia; Koop, Klaas; Prinsen, Hubertus C M T; de Sain-van der Velden, Monique

ALG13 loss-of-function alters glycosylation, impairs neuronal maturation, and drives network hypoactivity in a cortical organoid model of CDG

ALG13功能缺失会改变糖基化,损害神经元成熟,并在CDG皮质类器官模型中导致网络活动减弱。

Shah, Rameen; Budhraja, Rohit; Radenkovic, Silvia; Preston, Graeme; King, Alexia Tyler; Sabry, Sahar; Bleukx, Charlotte; Shammas, Ibrahim; Young, Lyndsay; Chandran, Jisha; Byeon, Seul Kee; Hrstka, Ronald; Smith, Doughlas Y; Staff, Nathan P; Drake, Richard; Sloan, Steven A; Pandey, Akhilesh; Morava, Eva; Kozicz, Tamas

PGM1 deficiency disrupts sarcomere and mitochondrial function in a stem-cell cardiomyocyte model

PGM1 缺乏会破坏干细胞心肌细胞模型中的肌节和线粒体功能

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

Novel mouse model reveals neurodevelopmental origin of PMM2-CDG brain pathology.

新型小鼠模型揭示了 PMM2-CDG 脑部病理的神经发育起源

Edmondson Andrew C, Budhraja Rohit, Xia Zijie, Melendez-Perez Ashley, Cai Cadmus, Radenkovic Silvia, Collins Ashley M, Shiplett Emily J, Hill Sophie F, Somarowthu Ala, Dam Johanna, Pai Ling-Lin, Santi Mariarita, Kim Seonhee, He Miao, Goldberg Ethan M, Kozicz Tamas, Morava Eva, Pandey Akhilesh, Zhou Zhaolan

A complement C4-derived glycopeptide is a biomarker for PMM2-CDG

补体C4衍生的糖肽是PMM2-CDG的生物标志物。

Garapati, Kishore; Budhraja, Rohit; Saraswat, Mayank; Kim, Jinyong; Joshi, Neha; Sachdeva, Gunveen S; Jain, Anu; Ligezka, Anna N; Radenkovic, Silvia; Ramarajan, Madan Gopal; Udainiya, Savita; Raymond, Kimiyo; He, Miao; Lam, Christina; Larson, Austin; Edmondson, Andrew C; Sarafoglou, Kyriakie; Larson, Nicholas B; Freeze, Hudson H; Schultz, Matthew J; Kozicz, Tamas; Morava, Eva; Pandey, Akhilesh

Dysregulated proteome and N-glycoproteome in ALG1-deficient fibroblasts

ALG1缺陷型成纤维细胞中蛋白质组和N-糖蛋白组的失调

Budhraja, Rohit; Joshi, Neha; Radenkovic, Silvia; Kozicz, Tamas; Morava, Eva; Pandey, Akhilesh