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

Modelling POLG mutations in mice unravels a critical role of POLγΒ in regulating phenotypic severity.

在小鼠中模拟 POLG 突变揭示了 POLγÎ' 在调节表型严重程度中的关键作用

Corrà Samantha, Zuppardo Alessandro, Valenzuela Sebastian, Jenninger Louise, Cerutti Raffaele, Sillamaa Sirelin, Hoberg Emily, Johansson Katarina A S, Rovsnik Urska, Volta Sara, Silva-Pinheiro Pedro, Davis Hannah, Trifunovic Aleksandra, Minczuk Michal, Gustafsson Claes M, Suomalainen Anu, Zeviani Massimo, Macao Bertil, Zhu Xuefeng, Falkenberg Maria, Viscomi Carlo

De Novo DNM1L Pathogenic Variant Associated with Lethal Encephalocardiomyopathy-Case Report and Literature Review

DNM1L致病性新发变异与致命性脑心肌病相关——病例报告及文献综述

Magistrati, Martina; Zupin, Luisa; Lamantea, Eleonora; Baruffini, Enrico; Ghezzi, Daniele; Legati, Andrea; Celsi, Fulvio; Murru, Flora Maria; Capaci, Valeria; Pinamonti, Maurizio; Bussani, Rossana; Carrozzi, Marco; Dallabona, Cristina; Zeviani, Massimo; Bonati, Maria Teresa

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 Neurodegeneration

线粒体神经退行性变

Zeviani, Massimo; Viscomi, Carlo

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