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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Improvement of Mutant Galactose-1-Phosphate Uridylyltransferase (GALT) Activity by FDA-Approved Pharmacochaperones: A Preliminary Study

FDA批准的药理伴侣蛋白对突变型半乳糖-1-磷酸尿苷酰转移酶（GALT）活性的改善：一项初步研究

期刊:International Journal of Molecular Sciences
影响因子:4.9
doi:10.3390/ijms26030888
Scafuri, Bernardina; Piscosquito, Stefania; Giliberti, Giulia; Facchiano, Angelo; Miner, Jaden; Balakrishnan, Bijina; Lai, Kent; Marabotti, Anna
GALT
发表日期：2025
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Experimental Galactose-1-Phosphate Uridylyltransferase (GALT) mRNA Therapy Improves Motor-Related Phenotypes in a Mouse Model of Classic Galactosemia-A Pilot Study

实验性半乳糖-1-磷酸尿苷酰转移酶 (GALT) mRNA 疗法改善经典半乳糖血症小鼠模型的运动相关表型——一项初步研究

期刊:Biomedicines
影响因子:3.9
doi:10.3390/biomedicines13122848
Bellagamba, Olivia; Guo, Aaron J; Yan, Xinhua; Sarkis, Joe; Balakrishnan, Bijina; Lai, Kent
Mouse
GALT
发表日期：2025
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Reshaping the Treatment Landscape of a Galactose Metabolism Disorder

重塑半乳糖代谢紊乱症的治疗格局

期刊:Journal of Inherited Metabolic Disease
影响因子:3.8
doi:10.1002/jimd.70013
Rubio-Gozalbo, M Estela; Naomi Vos, E; Rivera, Isabel; Lai, Kent; Berry, Gerard T
代谢
发表日期：2025
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Assessment of Long-Term Safety and Efficacy of Purple Sweet Potato Color (PSPC) and Myo-Inositol (MI) Treatment for Motor Related and Behavioral Phenotypes in a Mouse Model of Classic Galactosemia.

评估紫薯色素 (PSPC) 和肌醇 (MI) 治疗对经典半乳糖血症小鼠模型运动相关和行为表型的长期安全性和有效性

期刊:Journal of Inherited Metabolic Disease
影响因子:3.8
doi:10.1002/jimd.70002
Bellagamba Olivia, Guo Aaron J, Senthilkumar Sandhya, Lillevik Synneva Hagen, De Biase Davide, Lai Kent, Balakrishnan Bijina
Mouse
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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Whole-body galactose oxidation as a robust functional assay to assess the efficacy of gene-based therapies in a mouse model of Galactosemia

全身半乳糖氧化作为一种可靠的功能性检测方法，可用于评估基因疗法在半乳糖血症小鼠模型中的疗效。

期刊:Molecular Therapy-Methods & Clinical Development
影响因子:4.7
doi:10.1016/j.omtm.2024.101191
Balakrishnan, Bijina; Yan, Xinhua; McCue, Marshall D; Bellagamba, Olivia; Guo, Aaron; Winkler, Felicity; Thall, Jason; Crawford, Lisa; Dimen, Rain; Chen, Sara; McEnaney, Sean; Wu, Yiman; Zimmer, Mike; Sarkis, Joe; Martini, Paolo G V; Finn, Patrick F; Lai, Kent
发表日期：2024
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The hypergonadotropic hypogonadism conundrum of classic galactosemia

经典型半乳糖血症的高促性腺激素性性腺功能减退症之谜

期刊:Human Reproduction Update
影响因子:
doi:10.1093/humupd/dmac041
Derks, Britt; Rivera-Cruz, Greysha; Hagen-Lillevik, Synneva; Vos, E Naomi; Demirbas, Didem; Lai, Kent; Treacy, Eileen P; Levy, Harvey L; Wilkins-Haug, Louise E; Rubio-Gozalbo, M Estela; Berry, Gerard T
免疫/内分泌
发表日期：2023
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Fragment Screening Reveals Starting Points for Rational Design of Galactokinase 1 Inhibitors to Treat Classic Galactosemia

片段筛选揭示了合理设计半乳糖激酶 1 抑制剂治疗经典型半乳糖血症的起点。

期刊:ACS Chemical Biology
影响因子:3.8
doi:10.1021/acschembio.0c00498
Mackinnon, Sabrina R; Krojer, Tobias; Foster, William R; Diaz-Saez, Laura; Tang, Manshu; Huber, Kilian V M; von Delft, Frank; Lai, Kent; Brennan, Paul E; Arruda Bezerra, Gustavo; Yue, Wyatt W
信号转导
发表日期：2021
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Pathophysiology and management of classic galactosemic primary ovarian insufficiency

经典型半乳糖血症性原发性卵巢功能不全的病理生理学和治疗

期刊:Reproduction and Fertility
影响因子:3.4
doi:10.1530/RAF-21-0014
Hagen-Lillevik, Synneva; Rushing, John S; Appiah, Leslie; Longo, Nicola; Andrews, Ashley; Lai, Kent; Johnson, Joshua
发表日期：2021
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