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收藏Clinical and molecular characterization of novel FARS2 variants causing neonatal mitochondrial disease
Chen, Wenqian; Rehsi, Preeya; Thompson, Kyle; Yeo, Mildrid; Stals, Karen; He, Langping; Schimmel, Paul; Chrzanowska-Lightowlers, Zofia M. A.; Wakeling, Emma; Taylor, Robert W.; Kuhle, Bernhard 分享 收藏 分享 收藏 分享 收藏 分享 收藏 分享 收藏 分享 收藏 分享 收藏 分享 收藏 分享 收藏 OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defectThompson, Kyle; Mai, Nicole; Olahova, Monika; Scialo, Filippo; Formosa, Luke E.; Stroud, David A.; Garrett, Madeleine; Lax, Nichola Z.; Robertson, Fiona M.; Jou, Cristina; Nascimento, Andres; Ortez, Carlos; Jimenez-Mallebrera, Cecilia; Hardy, Steven A.; He, Langping; Brown, Garry K.; Marttinen, Paula; McFarland, Robert; Sanz, Alberto; Battersby, Brendan J.; Bonnen, Penelope E.; Ryan, Michael T.; Chrzanowska-Lightowlers, Zofia M. A.; Lightowlers, Robert N.; Taylor, Robert W. 分享 收藏 Defective mitochondrial protease LonP1 can cause classical mitochondrial diseasePeter, Bradley; Waddington, Christie L.; Olahova, Monika; Sommerville, Ewen W.; Hopton, Sila; Pyle, Angela; Champion, Michael; Ohlson, Monica; Siibak, Triinu; Chrzanowska-Lightowlers, Zofia M. A.; Taylor, Robert W.; Falkenberg, Maria; Lightowlers, Robert N. 分享 收藏 Clinical, biochemical, and genetic features associated with VARS2-related mitochondrial diseaseBruni, Francesco; Di Meo, Ivano; Bellacchio, Emanuele; Webb, Bryn D.; McFarland, Robert; Chrzanowska-Lightowlers, Zofia M. A.; He, Langping; Skorupa, Ewa; Moroni, Isabella; Ardissone, Anna; Walczak, Anna; Tyynismaa, Henna; Isohanni, Pirjo; Mandel, Hanna; Prokisch, Holger; Haack, Tobias; Bonnen, Penelope E.; Enrico, Bertini; Pronicka, Ewa; Ghezzi, Daniele; Taylor, Robert W.; Diodato, Daria 分享 收藏 Biallelic C1QBP Mutations Cause Severe Neonatal-, Childhood-, or Later-Onset Cardiomyopathy Associated with Combined Respiratory-Chain DeficienciesFeichtinger, Rene G.; Olahova, Monika; Kishita, Yoshihito; Garone, Caterina; Kremer, Laura S.; Yagi, Mikako; Uchiumi, Takeshi; Jourdain, Alexis A.; Thompson, Kyle; D'Souza, Aaron R.; Kopajtich, Robert; Alston, Charlotte L.; Koch, Johannes; Sperl, Wolfgang; Mastantuono, Elisa; Strom, Tim M.; Wortmann, Saskia B.; Meitinger, Thomas; Pierre, Germaine; Chinnery, Patrick F.; Chrzanowska-Lightowlers, Zofia M.; Lightowlers, Robert N.; DiMauro, Salvatore; Calvo, Sarah E.; Mootha, Vamsi K.; Moggio, Maurizio; Sciacco, Monica; Comi, Giacomo P.; Ronchi, Dario; Murayama, Kei; Ohtake, Akira; Rebelo-Guiomar, Pedro; Kohda, Masakazu; Kang, Dongchon; Mayr, Johannes A.; Taylor, Robert W.; Okazaki, Yasushi; Minczuk, Michal; Prokisch, Holger 分享 收藏 分享 收藏 分享 收藏 Store-Operated Ca2+ Entry Controls Induction of Lipolysis and the Transcriptional Reprogramming to Lipid MetabolismMaus, Mate; Cuk, Mario; Patel, Bindi; Lian, Jayson; Ouimet, Mireille; Kaufmann, Ulrike; Yang, Jun; Horvath, Rita; Hornig-Do, Hue-Tran; Chrzanowska-Lightowlers, Zofia M.; Moore, Kathryn J.; Cuervo, Ana Maria; Feske, Stefan 分享 收藏 The Pseudouridine Synthase RPUSD4 Is an Essential Component of Mitochondrial RNA GranulesZaganelli, Sofia; Rebelo-Guiomar, Pedro; Maundrell, Kinsey; Rozanska, Agata; Pierredon, Sandra; Powell, Christopher A.; Jourdain, Alexis A.; Hulo, Nicolas; Lightowlers, Robert N.; Chrzanowska-Lightowlers, Zofia M.; Minczuk, Michal; Martinou, Jean-Claude 分享 收藏 分享 收藏 Autophagy impairment with lysosomal and mitochondrial dysfunction is an important characteristic of oxidative stress-induced senescenceTai, Haoran; Wang, Zhe; Gong, Hui; Han, Xiaojuan; Zhou, Jiao; Wang, Xiaobo; Wei, Xiawei; Ding, Yi; Huang, Ning; Qin, Jianqiong; Zhang, Jie; Wang, Shuang; Gao, Fei; Chrzanowska-Lightowlers, Zofia M.; Xiang, Rong; Xiao, Hengyi 分享 收藏 
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