日期 影响因子
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

期刊:Journal of Translational Medicine
影响因子:7.5
doi:10.1186/s12967-026-07808-9
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
细胞生物学
线粒体
发表日期：2026
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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

期刊:Cells
影响因子:5.2
doi:10.3390/cells15020147
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
信号转导
发育与干细胞
发表日期：2026
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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。

期刊:
影响因子:
doi:10.1101/2025.08.15.670547
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
神经科学
癫痫
发表日期：2025
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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

期刊:
影响因子:
doi:10.21203/rs.3.rs-6882753/v1
Kozicz, Tamas; Budhraja, Rohit; Preston, Graeme; Joshi, Neha; Muffels, Irena; Turecki, Gustavo; Frye, Mark; Veldic, Marin; Morava, Eva; Pandey, Akhilesh
抑郁症
神经科学
发表日期：2025
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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。

期刊:
影响因子:
doi:10.1101/2025.07.09.663964
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
3D/类器官
神经科学
发表日期：2025
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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

期刊:
影响因子:
doi:10.1101/2025.07.01.662580
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
细胞生物学
发育与干细胞
线粒体
干细胞
发表日期：2025
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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

期刊:
影响因子:
doi:10.1101/2025.06.01.657261
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
发育与干细胞
神经科学
Mouse
发表日期：2025
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Defining albumin as a glycoprotein with multiple N-linked glycosylation sites

将白蛋白定义为具有多个N-连接糖基化位点的糖蛋白

期刊:Journal of Translational Medicine
影响因子:7.5
doi:10.1186/s12967-024-05000-5
Garapati, Kishore; Jain, Anu; Madden, Benjamin J; Mun, Dong-Gi; Sharma, Jyoti; Budhraja, Rohit; Pandey, Akhilesh
发表日期：2024
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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。

期刊:JCI Insight
影响因子:6.1
doi:10.1172/jci.insight.172509
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
免疫/内分泌
多发性骨髓瘤
发表日期：2024
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Liposome-encapsulated mannose-1-phosphate therapy improves global N-glycosylation in different congenital disorders of glycosylation

脂质体包裹的甘露糖-1-磷酸疗法可改善不同先天性糖基化障碍中的整体N-糖基化。

期刊:Molecular Genetics and Metabolism
影响因子:3.5
doi:10.1016/j.ymgme.2024.108487
Budhraja, Rohit; Radenkovic, Silvia; Jain, Anu; Muffels, Irena J J; Ismaili, Moulay Hicham Alaoui; Kozicz, Tamas; Pandey, Akhilesh; Morava, Eva
发表日期：2024
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