日期 影响因子
日期:
2020 年 — 2026 年
2020
2021
2022
2023
2024
2025
2026
影响因子:
–

The POLγ Y951N patient mutation disrupts the switch between DNA synthesis and proofreading, triggering mitochondrial DNA instability

POLγ Y951N 患者突变会破坏 DNA 合成和校正之间的转换，从而引发线粒体 DNA 不稳定。

期刊:Proceedings of the National Academy of Sciences of the United States of America
影响因子:9.1
doi:10.1073/pnas.2417477122
Forslund, Josefin M E; Nguyen, Tran V H; Parkash, Vimal; Berner, Andreas; Goffart, Steffi; Pohjoismäki, Jaakko L O; Wanrooij, Paulina H; Johansson, Erik; Wanrooij, Sjoerd
线粒体
发表日期：2025
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MRE11-independent effects of Mirin on mitochondrial DNA integrity and cellular immune responses.

Mirin 对线粒体 DNA 完整性和细胞免疫反应的 MRE11 非依赖性影响

期刊:Molecular Biology of the Cell
影响因子:2.7
doi:10.1091/mbc.E24-01-0002
Aasumets Koit, Hangas Anu, Fragkoulis Georgios, Bader Cyrielle P J, Erdinc Direnis, Wanrooij Sjoerd, Wanrooij Paulina H, Goffart Steffi, Pohjoismäki Jaakko L O
细胞生物学
线粒体
发表日期：2025
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Enhanced mitochondrial G-quadruplex formation impedes replication fork progression leading to mtDNA loss in human cells

线粒体G-四链体形成增强会阻碍复制叉的延伸，导致人类细胞中线粒体DNA的丢失。

期刊:Nucleic Acids Research
影响因子:13.1
doi:10.1093/nar/gkad535
Doimo, Mara; Chaudhari, Namrata; Abrahamsson, Sanna; L'Hôte, Valentin; Nguyen, Tran V H; Berner, Andreas; Ndi, Mama; Abrahamsson, Alva; Das, Rabindra Nath; Aasumets, Koit; Goffart, Steffi; Pohjoismäki, Jaakko L O; López, Marcela Dávila; Chorell, Erik; Wanrooij, Sjoerd
线粒体
细胞生物学
发表日期：2023
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Heterozygous p.Y955C mutation in DNA polymerase γ leads to alterations in bioenergetics, complex I subunit expression, and mtDNA replication

DNA聚合酶γ的杂合p.Y955C突变会导致生物能量学、复合物I亚基表达和线粒体DNA复制的改变。

期刊:Journal of Biological Chemistry
影响因子:3.9
doi:10.1016/j.jbc.2022.102196
Rahman, Md Mostafijur; Young, Carolyn K J; Goffart, Steffi; Pohjoismäki, Jaakko L O; Young, Matthew J
线粒体
发表日期：2022
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Preclinical Efficacy and Safety Evaluation of Hematopoietic Stem Cell Gene Therapy in a Mouse Model of MNGIE

在MNGIE小鼠模型中，造血干细胞基因疗法的临床前疗效和安全性评价

期刊:Molecular Therapy-Methods & Clinical Development
影响因子:4.7
doi:10.1016/j.omtm.2018.01.001
Yadak, Rana; Cabrera-Pérez, Raquel; Torres-Torronteras, Javier; Bugiani, Marianna; Haeck, Joost C; Huston, Marshall W; Bogaerts, Elly; Goffart, Steffi; Jacobs, Edwin H; Stok, Merel; Leonardelli, Lorena; Biasco, Luca; Verdijk, Robert M; Bernsen, Monique R; Ruijter, George; Martí, Ramon; Wagemaker, Gerard; van Til, Niek P; de Coo, Irenaeus F M
细胞生物学
发育与干细胞
Mouse
干细胞
发表日期：2018
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Developmental and pathological changes in the human cardiac muscle mitochondrial DNA organization, replication and copy number

人类心肌线粒体DNA组织、复制和拷贝数的发育和病理变化

期刊:PLoS One
影响因子:2.6
doi:10.1371/journal.pone.0010426
Pohjoismäki, Jaakko L O; Goffart, Steffi; Taylor, Robert W; Turnbull, Douglas M; Suomalainen, Anu; Jacobs, Howard T; Karhunen, Pekka J
发育与干细胞
线粒体
发表日期：2010
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Human heart mitochondrial DNA is organized in complex catenated networks containing abundant four-way junctions and replication forks

人类心脏线粒体DNA以复杂的链状网络形式组织，其中包含大量的四向连接点和复制叉。

期刊:Journal of Biological Chemistry
影响因子:3.9
doi:10.1074/jbc.M109.016600
Pohjoismäki, Jaakko L O; Goffart, Steffi; Tyynismaa, Henna; Willcox, Smaranda; Ide, Tomomi; Kang, Dongchon; Suomalainen, Anu; Karhunen, Pekka J; Griffith, Jack D; Holt, Ian J; Jacobs, Howard T
Human
线粒体
发表日期：2009
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Twinkle mutations associated with autosomal dominant progressive external ophthalmoplegia lead to impaired helicase function and in vivo mtDNA replication stalling

与常染色体显性遗传性进行性眼外肌麻痹相关的Twinkle基因突变会导致解旋酶功能受损和体内mtDNA复制停滞。

期刊:Human Molecular Genetics
影响因子:3.2
doi:10.1093/hmg/ddn359
Goffart, Steffi; Cooper, Helen M; Tyynismaa, Henna; Wanrooij, Sjoerd; Suomalainen, Anu; Spelbrink, Johannes N
发表日期：2009
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CREB-1alpha is recruited to and mediates upregulation of the cytochrome c promoter during enhanced mitochondrial biogenesis accompanying skeletal muscle differentiation

在骨骼肌分化过程中，线粒体生物合成增强，CREB-1α 被募集到细胞色素 c 启动子并介导其上调。

期刊:Molecular and Cellular Biology
影响因子:2.7
doi:10.1128/MCB.00980-07
Franko, Andras; Mayer, Sabine; Thiel, Gerald; Mercy, Ludovic; Arnould, Thierry; Hornig-Do, Hue-Tran; Wiesner, Rudolf J; Goffart, Steffi
细胞生物学
线粒体
CREB
发表日期：2008
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