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

Sengers syndrome caused by biallelic TIMM29 variants and RNAi silencing in Drosophila orthologue recapitulates the human phenotype

由双等位基因TIMM29变异和果蝇同源基因RNAi沉默引起的Sengers综合征重现了人类的表型

Shalata, Adel; Saada, Ann; Mahroum, Mohammed; Hadid, Yarin; Furman, Chaya; Shalata, Zaher Eldin; Desnick, Robert J; Lorber, Avraham; Khoury, Asaad; Higazi, Adnan; Shaag, Avraham; Barash, Varda; Spiegel, Ronen; Vlodavsky, Euvgeni; Rustin, Pierre; Pietrokovski, Shmuel; Manov, Irena; Gieger, Dan; Tal, Galit; Salzberg, Adi; Mandel, Hanna

Author Correction: miR-379 links glucocorticoid treatment with mitochondrial response in Duchenne muscular dystrophy

作者更正:miR-379 将糖皮质激素治疗与杜氏肌营养不良症的线粒体反应联系起来

Sanson, Mathilde; Vu Hong, Ai; Massourides, Emmanuelle; Bourg, Nathalie; Suel, Laurence; Amor, Fatima; Corre, Guillaume; Bénit, Paule; Barthelemy, Inès; Blot, Stephane; Bigot, Anne; Pinset, Christian; Rustin, Pierre; Servais, Laurent; Voit, Thomas; Richard, Isabelle; Israeli, David

Mitochondria: great balls of fire

线粒体:巨大的火球

Jacobs, Howard T; Rustin, Pierre; Bénit, Paule; Davidi, Dan; Terzioglu, Mügen

Mitochondrial temperature homeostasis resists external metabolic stresses.

线粒体温度稳态能够抵抗外部代谢压力

Terzioglu Mügen, Veeroja Kristo, Montonen Toni, Ihalainen Teemu O, Salminen Tiina S, Bénit Paule, Rustin Pierre, Chang Young-Tae, Nagai Takeharu, Jacobs Howard T

Succinate Dehydrogenase, Succinate, and Superoxides: A Genetic, Epigenetic, Metabolic, Environmental Explosive Crossroad

琥珀酸脱氢酶、琥珀酸和超氧化物:遗传、表观遗传、代谢和环境的爆炸性交汇点

Bénit, Paule; Goncalves, Judith; El Khoury, Riyad; Rak, Malgorzata; Favier, Judith; Gimenez-Roqueplo, Anne-Paule; Rustin, Pierre

Report on three additional patients and genotype-phenotype correlation in SLC25A22-related disorders group

关于SLC25A22相关疾病组中另外三名患者及基因型-表型相关性的报告

Lemattre, Camille; Imbert-Bouteille, Marion; Gatinois, Vincent; Benit, Paule; Sanchez, Elodie; Guignard, Thomas; Tran Mau-Them, Frédéric; Haquet, Emmanuelle; Rivier, François; Carme, Emilie; Roubertie, Agathe; Boland, Anne; Lechner, Doris; Meyer, Vincent; Thevenon, Julien; Duffourd, Yannis; Rivière, Jean-Baptiste; Deleuze, Jean-François; Wells, Constance; Molinari, Florence; Rustin, Pierre; Blanchet, Patricia; Geneviève, David

CHCHD2 accumulates in distressed mitochondria and facilitates oligomerization of CHCHD10

CHCHD2 在受损线粒体中积累,并促进 CHCHD10 的寡聚化。

Huang, Xiaoping; Wu, Beverly P; Nguyen, Diana; Liu, Yi-Ting; Marani, Melika; Hench, Jürgen; Bénit, Paule; Kozjak-Pavlovic, Vera; Rustin, Pierre; Frank, Stephan; Narendra, Derek P

ACO2 mutations: A novel phenotype associating severe optic atrophy and spastic paraplegia

ACO2 基因突变:一种与严重视神经萎缩和痉挛性截瘫相关的新型表型

Marelli, Cecilia; Hamel, Christian; Quiles, Melanie; Carlander, Bertrand; Larrieu, Lise; Delettre, Cecile; Sarzi, Emmanuelle; Chretien, Dominique; Rustin, Pierre; Koenig, Michel; Guissart, Claire

SLC25A32 Mutations and Riboflavin-Responsive Exercise Intolerance

SLC25A32 突变与核黄素反应性运动不耐受

Schiff, Manuel; Veauville-Merllié, Alice; Su, Chen Hsien; Tzagoloff, Alexander; Rak, Malgorzata; Ogier de Baulny, Hélène; Boutron, Audrey; Smedts-Walters, Hélène; Romero, Norma B; Rigal, Odile; Rustin, Pierre; Vianey-Saban, Christine; Acquaviva-Bourdain, Cécile

Mutations in CYC1, encoding cytochrome c1 subunit of respiratory chain complex III, cause insulin-responsive hyperglycemia

编码呼吸链复合物 III 细胞色素 c1 亚基的 CYC1 基因突变会导致胰岛素反应性高血糖症。

Gaignard, Pauline; Menezes, Minal; Schiff, Manuel; Bayot, Aurélien; Rak, Malgorzata; Ogier de Baulny, Hélène; Su, Chen-Hsien; Gilleron, Mylene; Lombes, Anne; Abida, Heni; Tzagoloff, Alexander; Riley, Lisa; Cooper, Sandra T; Mina, Kym; Sivadorai, Padma; Davis, Mark R; Allcock, Richard J N; Kresoje, Nina; Laing, Nigel G; Thorburn, David R; Slama, Abdelhamid; Christodoulou, John; Rustin, Pierre