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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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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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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Assessment of ataxia phenotype in a new mouse model of galactose-1 phosphate uridylyltransferase (GALT) deficiency

对一种新的半乳糖-1-磷酸尿苷酰转移酶（GALT）缺乏症小鼠模型中的共济失调表型进行评估

期刊:Journal of Inherited Metabolic Disease
影响因子:3.8
doi:10.1007/s10545-016-9993-2
Chen, Wyman; Caston, Rose; Balakrishnan, Bijina; Siddiqi, Anwer; Parmar, Kamalpreet; Tang, Manshu; Feng, Merry; Lai, Kent
GALT
发表日期：2017
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Functional and molecular studies in primary carnitine deficiency

原发性肉碱缺乏症的功能和分子研究

期刊:Human Mutation
影响因子:3.7
doi:10.1002/humu.23315
Frigeni, Marta; Balakrishnan, Bijina; Yin, Xue; Calderon, Fernanda R O; Mao, Rong; Pasquali, Marzia; Longo, Nicola
发表日期：2017
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