Kozicz Tamas相关文献与解析，生知库 | 链接生命科学的每一步

日期影响因子

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

发表日期：2026

文献求助收藏

Reversible Metabolic and Liver Disease in Complex III Deficiency: Novel Variants Expand the Reported UQCRC2-Associated Phenotype

复合物 III 缺陷引起的可逆性代谢和肝脏疾病：新变异扩展了已报道的 UQCRC2 相关表型

影响因子:5.2

doi:10.3390/cells15070596

Preston, Graeme; Shammas, Ibrahim; Pinto E Vairo, Filippo; Ligezka, Anna; Aschoff, Carlos Alberto de Moura; Poswar, Fabiano; Schwartz, Ida Vanessa D; Kozicz, Tamas; Morava, Eva

发表日期：2026

文献求助收藏

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

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

发育与干细胞

发表日期：2026

文献求助收藏

Albumin as a glycoprotein biomarker in congenital disorders of glycosylation

白蛋白作为先天性糖基化障碍中的糖蛋白生物标志物

期刊:Molecular Genetics and Metabolism

影响因子:3.5

doi:10.1016/j.ymgme.2026.109846

Garapati, Kishore; Jain, Anu; Joshi, Neha; Sachdeva, Gunveen S; Nam, Dowoon; Saraswat, Mayank; Pasupuleti, Raghavendra Rao; Schultz, Matthew J; Kozicz, Tamas; Morava, Eva; Pandey, Akhilesh

发表日期：2026

文献求助收藏

Drivers of Diagnostic Delay in Mitochondrial Disease: Missed Recognition of Canonical Features

线粒体疾病诊断延迟的驱动因素：未能识别典型特征

期刊:JIMD Reports

影响因子:1.8

doi:10.1002/jmd2.70068

Tinker, Rory J; Jacob, Neil; Syed, Mohammad Ghouse; Kelkar, Janhawi; Donnelly, Colleen; Elsharkawi, Ibrahim; Ganesh, Jaya; Gelb, Bruce D; Pejaver, Vikas; Kozicz, Tamas; Morava, Eva

发表日期：2026

文献求助收藏

Multilevel impairment of mitochondrial respiration with sex-specific signatures in inclusion body myositis

包涵体肌炎中线粒体呼吸的多层次损伤及其性别特异性特征

doi:10.64898/2026.02.18.706692

Shammas, Ibrahim; Iaali, Hazem; Watzlawik, Jens O; Folch, Noemi Vidal; Dasari, Surendra; Preston, Graeme; Nguyen, Thi Kim Oanh; Springer, Wolfdieter; Kozicz, Tamas; Hasadsri, Linda; Trushina, Eugenia; Lanza, Ian R; Naddaf, Elie

发表日期：2026

文献求助收藏

Mitochondria as the key to understanding neuroinflammation

线粒体是理解神经炎症的关键

影响因子:11.7

doi:10.1093/brain/awaf173

Kozicz, Tamas; Morava, Eva

发表日期：2025

文献求助收藏

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

影响因子:5.2

doi:10.3390/cells14090638

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

发表日期：2025

文献求助收藏

Pseudohypoxia-Stabilized HIF2Î± Transcriptionally Inhibits MNRR1, a Druggable Target in MELAS.

假性缺氧稳定 HIF2α 转录抑制 MNRR1，MNRR1 是 MELAS 中的可药物靶点

影响因子:5.2

doi:10.3390/cells14141078

Purandare Neeraja, Pasupathi Vignesh, Xi Yue, Rajan Vikram, Vegh Caleb, Firestine Steven, Kozicz Tamas, Fribley Andrew M, Grossman Lawrence I, Aras Siddhesh

发表日期：2025

文献求助收藏

Sensory processing sensitivity in adult dental patients and its relation to perceived stress, cortisol, and serotonin secretion

成年牙科患者的感觉处理敏感性及其与感知压力、皮质醇和血清素分泌的关系

期刊:Scientific Reports

影响因子:3.9

doi:10.1038/s41598-025-90263-1

Golonka, Krystyna; Gulla, Bożena; Kościelniak, Dorota; Darczuk, Dagmara; Cienkosz-Stepanczak, Beata; Bystrowska, Beata; Fortuna, Dominika; Kozicz, Tamas; Krzyściak, Wirginia

发表日期：2025

文献求助收藏