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

Uncovering a Novel Pathogenic Mechanism of BCS1L in Mitochondrial Disorders: Insights from Functional Studies on the c.38A>G Variant

揭示 BCS1L 在线粒体疾病中的一种新型致病机制:来自 c.38A>G 变异体功能研究的启示

Valeria Capaci ,Luisa Zupin ,Martina Magistrati ,Maria Teresa Bonati ,Fulvio Celsi ,Irene Marrone ,Francesco Baldo ,Blendi Ura ,Beatrice Spedicati ,Anna Morgan ,Irene Bruno ,Massimo Zeviani ,Cristina Dallabona ,Giorgia Girotto ,Andrea Magnolato

Structural rather than catalytic role for mitochondrial respiratory chain supercomplexes

线粒体呼吸链超复合物的结构作用而非催化作用

Michele Brischigliaro, Alfredo Cabrera-Orefice, Susanne Arnold, Carlo Viscomi, Massimo Zeviani, Erika Fernández-Vizarra

Drosophila Mpv17 forms an ion channel and regulates energy metabolism

果蝇Mpv17形成离子通道并调节能量代谢

Samantha Corrà, Vanessa Checchetto, Michele Brischigliaro, Chiara Rampazzo, Emanuela Bottani, Cristina Gagliani, Katia Cortese, Cristiano De Pittà, Marco Roverso, Diego De Stefani, Sara Bogialli, Massimo Zeviani, Carlo Viscomi, Ildiko Szabò, Rodolfo Costa

PPAR-gamma agonist pioglitazone recovers mitochondrial quality control in fibroblasts from PITRM1-deficient patients

PPAR-γ激动剂吡格列酮可恢复PITRM1缺陷患者成纤维细胞的线粒体质量控制

Alessia Di Donfrancesco ,Christian Berlingieri ,Marta Giacomello ,Chiara Frascarelli ,Ana Paula Magalhaes Rebelo ,Laurence A Bindoff ,Segel Reeval ,Paul Renbaum ,Filippo M Santorelli ,Giulia Massaro ,Carlo Viscomi ,Massimo Zeviani ,Daniele Ghezzi ,Emanuela Bottani ,Dario Brunetti

Double administration of self-complementary AAV9NDUFS4 prevents Leigh disease in Ndufs4-/- mice

双剂量自身互补的 AAV9NDUFS4 治疗可预防 Ndufs4-/- 小鼠患上 Leigh 病

Samantha Corrà, Raffaele Cerutti, Valeria Balmaceda, Carlo Viscomi, Massimo Zeviani

CG7630 is the Drosophila melanogaster homolog of the cytochrome c oxidase subunit COX7B

CG7630 是果蝇细胞色素 c 氧化酶亚基 COX7B 的同源物

Michele Brischigliaro, Alfredo Cabrera-Orefice, Mattia Sturlese, Dei M Elurbe, Elena Frigo, Erika Fernandez-Vizarra, Stefano Moro, Martijn A Huynen, Susanne Arnold, Carlo Viscomi, Massimo Zeviani

Mitochondrial Cytochrome c Oxidase Defects Alter Cellular Homeostasis of Transition Metals

线粒体细胞色素c氧化酶缺陷会改变过渡金属的细胞稳态

Michele Brischigliaro ,Denis Badocco ,Rodolfo Costa ,Carlo Viscomi ,Massimo Zeviani ,Paolo Pastore ,Erika Fernández-Vizarra

DNA polymerase gamma mutations that impair holoenzyme stability cause catalytic subunit depletion

损害全酶稳定性的DNA聚合酶γ突变会导致催化亚基耗竭。

Pedro Silva-Pinheiro ,Carlos Pardo-Hernández ,Aurelio Reyes ,Lisa Tilokani ,Anup Mishra ,Raffaele Cerutti ,Shuaifeng Li ,Dieu-Hien Rozsivalova ,Sebastian Valenzuela ,Sukru A Dogan ,Bradley Peter ,Patricio Fernández-Silva ,Aleksandra Trifunovic ,Julien Prudent ,Michal Minczuk ,Laurence Bindoff ,Bertil Macao ,Massimo Zeviani ,Maria Falkenberg ,Carlo Viscomi

Exploiting pyocyanin to treat mitochondrial disease due to respiratory complex III dysfunction

利用绿脓菌素治疗因呼吸道复合物 III 功能障碍引起的线粒体疾病

Roberta Peruzzo, Samantha Corrà, Roberto Costa, Michele Brischigliaro, Tatiana Varanita, Lucia Biasutto, Chiara Rampazzo, Daniele Ghezzi, Luigi Leanza, Mario Zoratti, Massimo Zeviani, Cristiano De Pittà, Carlo Viscomi, Rodolfo Costa, Ildikò Szabò

Loss of function of the mitochondrial peptidase PITRM1 induces proteotoxic stress and Alzheimer's disease-like pathology in human cerebral organoids

线粒体肽酶PITRM1功能丧失会在人类脑类器官中诱导蛋白毒性应激和类似阿尔茨海默病的病理变化

María José Pérez # ,Dina Ivanyuk # ,Vasiliki Panagiotakopoulou ,Gabriele Di Napoli ,Stefanie Kalb ,Dario Brunetti ,Rawaa Al-Shaana ,Stephan A Kaeser ,Sabine Anne-Kristin Fraschka ,Mathias Jucker ,Massimo Zeviani ,Carlo Viscomi ,Michela Deleidi