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

Biallelic variants in TAMM41 are associated with low muscle cardiolipin levels, leading to neonatal mitochondrial disease

TAMM41基因的双等位基因变异与肌肉中心磷脂水平低下相关,进而导致新生儿线粒体疾病。

Thompson, Kyle; Bianchi, Lucas; Rastelli, Francesca; Piron-Prunier, Florence; Ayciriex, Sophie; Besmond, Claude; Hubert, Laurence; Barth, Magalie; Barbosa, Inês A; Deshpande, Charu; Chitre, Manali; Mehta, Sarju G; Wever, Eric J M; Marcorelles, Pascale; Donkervoort, Sandra; Saade, Dimah; Bönnemann, Carsten G; Chao, Katherine R; Cai, Chunyu; Iannaccone, Susan T; Dean, Andrew F; McFarland, Robert; Vaz, Frédéric M; Delahodde, Agnès; Taylor, Robert W; Rötig, Agnès

Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans

人类ATG7介导的自噬缺陷的发育后果

Collier, Jack J; Guissart, Claire; Oláhová, Monika; Sasorith, Souphatta; Piron-Prunier, Florence; Suomi, Fumi; Zhang, David; Martinez-Lopez, Nuria; Leboucq, Nicolas; Bahr, Angela; Azzarello-Burri, Silvia; Reich, Selina; Schöls, Ludger; Polvikoski, Tuomo M; Meyer, Pierre; Larrieu, Lise; Schaefer, Andrew M; Alsaif, Hessa S; Alyamani, Suad; Zuchner, Stephan; Barbosa, Inês A; Deshpande, Charu; Pyle, Angela; Rauch, Anita; Synofzik, Matthis; Alkuraya, Fowzan S; Rivier, François; Ryten, Mina; McFarland, Robert; Delahodde, Agnès; McWilliams, Thomas G; Koenig, Michel; Taylor, Robert W

Efficient clofilium tosylate-mediated rescue of POLG-related disease phenotypes in zebrafish

氯非利甲磺酸盐有效挽救斑马鱼 POLG 相关疾病表型

Nicola Facchinello, Claudio Laquatra, Lisa Locatello, Giorgia Beffagna, Raquel Brañas Casas, Chiara Fornetto, Alberto Dinarello, Laura Martorano, Andrea Vettori, Giovanni Risato, Rudy Celeghin, Giacomo Meneghetti, Massimo Mattia Santoro, Agnes Delahodde, Francesco Vanzi, Andrea Rasola, Luisa Dalla V

Autophagy facilitates mitochondrial rebuilding after acute heat stress via a DRP-1-dependent process

自噬通过 DRP-1 依赖的过程促进急性热应激后线粒体的重建

Yanfang Chen, Romane Leboutet, Céline Largeau, Siham Zentout, Christophe Lefebvre, Agnès Delahodde, Emmanuel Culetto #, Renaud Legouis #

A Yeast-Based Screening Unravels Potential Therapeutic Molecules for Mitochondrial Diseases Associated with Dominant ANT1 Mutations

基于酵母的筛选揭示了与显性 ANT1 突变相关的线粒体疾病的潜在治疗分子

Giulia di Punzio, Maria Antonietta Di Noia, Agnès Delahodde, Carole Sellem, Claudia Donnini, Luigi Palmieri, Tiziana Lodi, Cristina Dallabona

The impairment of MAGMAS function in human is responsible for a severe skeletal dysplasia

人类 MAGMAS 功能受损是导致严重骨骼发育不良的原因

Cybel Mehawej, Agnès Delahodde, Laurence Legeai-Mallet, Valérie Delague, Nabil Kaci, Jean-Pierre Desvignes, Zoha Kibar, José-Mario Capo-Chichi, Eliane Chouery, Arnold Munnich, Valérie Cormier-Daire, André Mégarbané

Mutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase

人类脂酰转移酶基因 LIPT1 的突变会导致莱氏病,并伴有丙酮酸和α-酮戊二酸脱氢酶的继发性缺乏。

Soreze, Yohan; Boutron, Audrey; Habarou, Florence; Barnerias, Christine; Nonnenmacher, Luc; Delpech, Hélène; Mamoune, Asmaa; Chrétien, Dominique; Hubert, Laurence; Bole-Feysot, Christine; Nitschke, Patrick; Correia, Isabelle; Sardet, Claude; Boddaert, Nathalie; Hamel, Yamina; Delahodde, Agnès; Ottolenghi, Chris; de Lonlay, Pascale

CABC1 gene mutations cause ubiquinone deficiency with cerebellar ataxia and seizures

CABC1基因突变导致泛醌缺乏,引起小脑共济失调和癫痫发作。

Mollet, Julie; Delahodde, Agnès; Serre, Valérie; Chretien, Dominique; Schlemmer, Dimitri; Lombes, Anne; Boddaert, Nathalie; Desguerre, Isabelle; de Lonlay, Pascale; de Baulny, Hélène Ogier; Munnich, Arnold; Rötig, Agnès

Dissection of the carboxyl-terminal domain of the proteasomal subunit Rpn11 in maintenance of mitochondrial structure and function

蛋白酶体亚基Rpn11羧基末端结构域在维持线粒体结构和功能中的作用解析

Rinaldi, Teresa; Hofmann, Line; Gambadoro, Alessia; Cossard, Raynald; Livnat-Levanon, Nurit; Glickman, Michael H; Frontali, Laura; Delahodde, Agnès

Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders

泛醌缺乏和氧化磷酸化障碍中的异戊二烯二磷酸合酶亚基 1 (PDSS1) 和 OH-苯甲酸聚异戊二烯基转移酶 (COQ2) 突变

Julie Mollet, Irina Giurgea, Dimitri Schlemmer, Gustav Dallner, Dominique Chretien, Agnès Delahodde, Delphine Bacq, Pascale de Lonlay, Arnold Munnich, Agnès Rötig