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

Tissue-specific responses to TFAM and mtDNA copy number manipulation in prematurely ageing mice.

TFAM 和 mtDNA 拷贝数操纵对早衰小鼠的组织特异性反应

Kremer Laura Sophie, Gao Guanbin, Rigoni Giovanni, Filograna Roberta, Mennuni Mara, Wibom Rolf, Végvári Ákos, Koolmeister Camilla, Larsson Nils-Göran

Novel Synonymous and Deep Intronic Variants Causing Primary and Secondary Pyruvate Dehydrogenase Complex Deficiency

导致原发性和继发性丙酮酸脱氢酶复合物缺乏症的新型同义突变和深内含子突变

Bruhn, Helene; Naess, Karin; Ygberg, Sofia; Peña-Pérez, Lucía; Lesko, Nicole; Wibom, Rolf; Freyer, Christoph; Stranneheim, Henrik; Wedell, Anna; Wredenberg, Anna

Ataxia Syndrome With Hearing Loss and Nephronophthisis Associated With a Novel Homozygous Variant in XPNPEP3

与 XPNPEP3 基因中一种新的纯合变异相关的伴有听力丧失和肾痨的共济失调综合征

Ben-Shabat, Ilan; Kvarnung, Malin; Sperker, Wolfgang; Bruhn, Helene; Wredenberg, Anna; Wibom, Rolf; Nennesmo, Inger; Engvall, Martin; Paucar, Martin

Novel Mutation m.10372A>G in MT-ND3 Causing Sensorimotor Axonal Polyneuropathy

MT-ND3基因中m.10372A>G新突变导致感觉运动轴索性多发性神经病

Bruhn, Helene; Samuelsson, Kristin; Schober, Florian A; Engvall, Martin; Lesko, Nicole; Wibom, Rolf; Nennesmo, Inger; Calvo-Garrido, Javier; Press, Rayomand; Stranneheim, Henrik; Freyer, Christoph; Wedell, Anna; Wredenberg, Anna

Case Report: A Novel Mutation in the Mitochondrial MT-ND5 Gene Is Associated With Leber Hereditary Optic Neuropathy (LHON)

病例报告:线粒体MT-ND5基因的新突变与莱伯遗传性视神经病变(LHON)相关

Engvall, Martin; Kawasaki, Aki; Carelli, Valerio; Wibom, Rolf; Bruhn, Helene; Lesko, Nicole; Schober, Florian A; Wredenberg, Anna; Wedell, Anna; Träisk, Frank

A multi-systemic mitochondrial disorder due to a dominant p.Y955H disease variant in DNA polymerase gamma

由DNA聚合酶γ中的显性p.Y955H致病变异引起的多系统线粒体疾病

Siibak, Triinu; Clemente, Paula; Bratic, Ana; Bruhn, Helene; Kauppila, Timo E S; Macao, Bertil; Schober, Florian A; Lesko, Nicole; Wibom, Rolf; Naess, Karin; Nennesmo, Inger; Wedell, Anna; Peter, Bradley; Freyer, Christoph; Falkenberg, Maria; Wredenberg, Anna

Intra-mitochondrial Methylation Deficiency Due to Mutations in SLC25A26

SLC25A26基因突变导致的线粒体内甲基化缺陷

Kishita, Yoshihito; Pajak, Aleksandra; Bolar, Nikhita Ajit; Marobbio, Carlo M T; Maffezzini, Camilla; Miniero, Daniela V; Monné, Magnus; Kohda, Masakazu; Stranneheim, Henrik; Murayama, Kei; Naess, Karin; Lesko, Nicole; Bruhn, Helene; Mourier, Arnaud; Wibom, Rolf; Nennesmo, Inger; Jespers, Ann; Govaert, Paul; Ohtake, Akira; Van Laer, Lut; Loeys, Bart L; Freyer, Christoph; Palmieri, Ferdinando; Wredenberg, Anna; Okazaki, Yasushi; Wedell, Anna

Rapid pulsed whole genome sequencing for comprehensive acute diagnostics of inborn errors of metabolism

快速脉冲式全基因组测序用于先天性代谢缺陷的全面急性诊断

Stranneheim, Henrik; Engvall, Martin; Naess, Karin; Lesko, Nicole; Larsson, Pontus; Dahlberg, Mats; Andeer, Robin; Wredenberg, Anna; Freyer, Chris; Barbaro, Michela; Bruhn, Helene; Emahazion, Tesfail; Magnusson, Måns; Wibom, Rolf; Zetterström, Rolf H; Wirta, Valtteri; von Döbeln, Ulrika; Wedell, Anna

Loss of UCP2 attenuates mitochondrial dysfunction without altering ROS production and uncoupling activity

UCP2 的缺失可减轻线粒体功能障碍,而不改变活性氧(ROS)的产生和解偶联活性。

Kukat, Alexandra; Dogan, Sukru Anil; Edgar, Daniel; Mourier, Arnaud; Jacoby, Christoph; Maiti, Priyanka; Mauer, Jan; Becker, Christina; Senft, Katharina; Wibom, Rolf; Kudin, Alexei P; Hultenby, Kjell; Flögel, Ulrich; Rosenkranz, Stephan; Ricquier, Daniel; Kunz, Wolfram S; Trifunovic, Aleksandra

LRPPRC is necessary for polyadenylation and coordination of translation of mitochondrial mRNAs

LRPPRC是线粒体mRNA多聚腺苷酸化和翻译协调所必需的。

Ruzzenente, Benedetta; Metodiev, Metodi D; Wredenberg, Anna; Bratic, Ana; Park, Chan Bae; Cámara, Yolanda; Milenkovic, Dusanka; Zickermann, Volker; Wibom, Rolf; Hultenby, Kjell; Erdjument-Bromage, Hediye; Tempst, Paul; Brandt, Ulrich; Stewart, James B; Gustafsson, Claes M; Larsson, Nils-Göran