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

Impaired complex I repair causes recessive Leber's hereditary optic neuropathy

复合物 I 修复受损导致隐性莱伯氏遗传性视神经病变

Sarah L Stenton, Natalia L Sheremet, Claudia B Catarino, Natalia A Andreeva, Zahra Assouline, Piero Barboni, Ortal Barel, Riccardo Berutti, Igor Bychkov, Leonardo Caporali, Mariantonietta Capristo, Michele Carbonelli, Maria L Cascavilla, Peter Charbel Issa, Peter Freisinger, Sylvie Gerber, Daniele G

Inactivity of Peptidase ClpP Causes Primary Accumulation of Mitochondrial Disaggregase ClpX with Its Interacting Nucleoid Proteins, and of mtDNA

肽酶 ClpP 失活导致线粒体解聚酶 ClpX 及其相互作用的核蛋白和线粒体 DNA 的初级积累

Jana Key, Sylvia Torres-Odio, Nina C Bach, Suzana Gispert, Gabriele Koepf, Marina Reichlmeir, A Phillip West, Holger Prokisch, Peter Freisinger, William G Newman, Stavit Shalev, Stephan A Sieber, Ilka Wittig, Georg Auburger

Mutations in the X-linked ATP6AP2 cause a glycosylation disorder with autophagic defects

连锁 ATP6AP2 突变导致糖基化障碍和自噬缺陷

Maria A Rujano, Magda Cannata Serio, Ganna Panasyuk, Romain Péanne, Janine Reunert, Daisy Rymen, Virginie Hauser, Julien H Park, Peter Freisinger, Erika Souche, Maria Clara Guida, Esther M Maier, Yoshinao Wada, Stefanie Jäger, Nevan J Krogan, Oliver Kretz, Susana Nobre, Paula Garcia, Dulce Quelhas, 

Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy

NBAS 的双等位基因突变导致婴儿期复发性急性肝衰竭

Tobias B Haack, Christian Staufner, Marlies G Köpke, Beate K Straub, Stefan Kölker, Christian Thiel, Peter Freisinger, Ivo Baric, Patrick J McKiernan, Nicola Dikow, Inga Harting, Flemming Beisse, Peter Burgard, Urania Kotzaeridou, Joachim Kühr, Urban Himbert, Robert W Taylor, Felix Distelmaier, Jerr

Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement

ECHS1 缺乏可导致线粒体脑病并影响心脏

Tobias B Haack, Christopher B Jackson, Kei Murayama, Laura S Kremer, André Schaller, Urania Kotzaeridou, Maaike C de Vries, Gudrun Schottmann, Saikat Santra, Boriana Büchner, Thomas Wieland, Elisabeth Graf, Peter Freisinger, Sandra Eggimann, Akira Ohtake, Yasushi Okazaki, Masakazu Kohda, Yoshihito K

Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy

GTPBP3 突变导致与肥厚性心肌病、乳酸性酸中毒和脑病相关的线粒体翻译缺陷

Robert Kopajtich, Thomas J Nicholls, Joanna Rorbach, Metodi D Metodiev, Peter Freisinger, Hanna Mandel, Arnaud Vanlander, Daniele Ghezzi, Rosalba Carrozzo, Robert W Taylor, Klaus Marquard, Kei Murayama, Thomas Wieland, Thomas Schwarzmayr, Johannes A Mayr, Sarah F Pearce, Christopher A Powell, Ann Sa

ELAC2 mutations cause a mitochondrial RNA processing defect associated with hypertrophic cardiomyopathy

ELAC2 突变导致与肥厚型心肌病相关的线粒体 RNA 处理缺陷

Tobias B Haack, Robert Kopajtich, Peter Freisinger, Thomas Wieland, Joanna Rorbach, Thomas J Nicholls, Enrico Baruffini, Anett Walther, Katharina Danhauser, Franz A Zimmermann, Ralf A Husain, Jessica Schum, Helen Mundy, Ileana Ferrero, Tim M Strom, Thomas Meitinger, Robert W Taylor, Michal Minczuk, 

Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin

SLC33A1 基因突变会导致致命的常染色体隐性遗传病,并伴有先天性白内障、听力丧失以及血清铜和铜蓝蛋白含量低

Peter Huppke, Cornelia Brendel, Vera Kalscheuer, Georg Christoph Korenke, Iris Marquardt, Peter Freisinger, John Christodoulou, Merle Hillebrand, Gaele Pitelet, Callum Wilson, Ursula Gruber-Sedlmayr, Reinhard Ullmann, Stefan Haas, Orly Elpeleg, Gudrun Nürnberg, Peter Nürnberg, Shzeena Dad, Lisbeth B

Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome

由于 SLC52A2 错义突变导致核黄素运输受损,导致 Brown-Vialetto-Van Laere 综合征

Tobias B Haack, Christine Makowski, Yoshiaki Yao, Elisabeth Graf, Maja Hempel, Thomas Wieland, Ulrike Tauer, Uwe Ahting, Johannes A Mayr, Peter Freisinger, Hiroki Yoshimatsu, Ken Inui, Tim M Strom, Thomas Meitinger, Atsushi Yonezawa, Holger Prokisch

Thiamine pyrophosphokinase deficiency in encephalopathic children with defects in the pyruvate oxidation pathway

丙酮酸氧化途径缺陷的脑病儿童中硫胺素焦磷酸激酶缺乏症

Johannes A Mayr, Peter Freisinger, Kurt Schlachter, Boris Rolinski, Franz A Zimmermann, Thomas Scheffner, Tobias B Haack, Johannes Koch, Uwe Ahting, Holger Prokisch, Wolfgang Sperl