未登录 分享 收藏
分享 收藏
分享 收藏
Quantitative proteomics of patient fibroblasts reveal biomarkers and diagnostic signatures of mitochondrial disease Correia, Sandrina P.; Moedas, Marco F.; Taylor, Lucie S.; Naess, Karin; Lim, Albert Z.; McFarland, Robert; Kazior, Zuzanna; Rumyantseva, Anastasia; Wibom, Rolf; Engvall, Martin; Bruhn, Helene; Lesko, Nicole; Vegvari, Akos; Kall, Lukas; Trost, Matthias; Alston, Charlotte L.; Freyer, Christoph; Taylor, Robert W.; Wedell, Anna; Wredenberg, Anna 分享 收藏
分享 收藏
分享 收藏
PARKIN is not required to sustain OXPHOS function in adult mammalian tissues Filograna, Roberta; Gerlach, Jule; Choi, Hae-Na; Rigoni, Giovanni; Barbaro, Michela; Oscarson, Mikael; Lee, Seungmin; Tiklova, Katarina; Ringner, Markus; Koolmeister, Camilla; Wibom, Rolf; Riggare, Sara; Nennesmo, Inger; Perlmann, Thomas; Wredenberg, Anna; Wedell, Anna; Motori, Elisa; Svenningsson, Per; Larsson, Nils-Goran 分享 收藏
Novel Synonymous and Deep Intronic Variants Causing Primary and Secondary Pyruvate Dehydrogenase Complex Deficiency Bruhn, Helene; Naess, Karin; Ygberg, Sofia; Pena-Perez, Lucia; Lesko, Nicole; Wibom, Rolf; Freyer, Christoph; Stranneheim, Henrik; Wedell, Anna; Wredenberg, Anna 分享 收藏
分享 收藏
Antigen receptor stimulation induces purifying selection against pathogenic mitochondrial tRNA mutations 抗原受体刺激诱导针对致病性线粒体tRNA突变的纯化选择 Zhang, Jingdian; Koolmeister, Camilla; Han, Jinming; Filograna, Roberta; Hanke, Leo; Adori, Monika; Sheward, Daniel J.; Teifel, Sina; Gopalakrishna, Shreekara; Shao, Qiuya; Liu, Yong; Zhu, Keying; Harris, Robert A.; Mcinerney, Gerald; Murrell, Ben; Aoun, Mike; Baeckdahl, Liselotte; Holmdahl, Rikard; Pekalski, Marcin; Wedell, Anna; Engvall, Martin; Wredenberg, Anna; Hedestam, Gunilla B. Karlsson; Dopico, Xaquin Castro; Rorbach, Joanna 分享 收藏
A Missense Variant in PDK1 Associated with Severe Neurodevelopmental Delay and Epilepsy Vaz, Raquel; Wincent, Josephine; Elfissi, Najla; Rosengren Forsblad, Kristina; Pettersson, Maria; Naess, Karin; Wedell, Anna; Wredenberg, Anna; Lindstrand, Anna; Ygberg, Sofia 分享 收藏
ANGEL2 phosphatase activity is required for non-canonical mitochondrial RNA processing Clemente, Paula; Calvo-Garrido, Javier; Pearce, Sarah F.; Schober, Florian A.; Shigematsu, Megumi; Siira, Stefan J.; Laine, Isabelle; Spahr, Henrik; Steinmetzger, Christian; Petzold, Katja; Kirino, Yohei; Wibom, Rolf; Rackham, Oliver; Filipovska, Aleksandra; Rorbach, Joanna; Freyer, Christoph; Wredenberg, Anna 分享 收藏
ATP6V0C variants impair V-ATPase function causing a neurodevelopmental disorder often associated with epilepsy ATP6V0C变体损害v-atpase功能，导致通常与癫痫相关的神经发育障碍 Mattison, Kari A.; Tossing, Gilles; Mulroe, Fred; Simmons, Callum; Butler, Kameryn M.; Schreiber, Alison; Alsadah, Adnan; Neilson, Derek E.; Naess, Karin; Wedell, Anna; Wredenberg, Anna; Sorlin, Arthur; McCann, Emma; Burghel, George J.; Menendez, Beatriz; Hoganson, George E.; Botto, Lorenzo D.; Filloux, Francis M.; Aledo-Serrano, Angel; Gil-Nagel, Antonio; Tatton-Brown, Katrina; Verbeek, Nienke E.; van der Zwaag, Bert; Aleck, Kyrieckos A.; Fazenbaker, Andrew C.; Balciuniene, Jorune; Dubbs, Holly A.; Marsh, Eric D.; Garber, Kathryn; Ek, Jakob; Duno, Morten; Hoei-Hansen, Christina E.; Deardorff, Matthew A.; Raca, Gordana; Quindipan, Catherine; van Hirtum-Das, Michele; Breckpot, Jeroen; Hammer, Trine Bjorg; Moller, Rikke S.; Whitney, Andrea; Douglas, Andrew G. L.; Kharbanda, Mira; Brunetti-Pierri, Nicola; Morleo, Manuela; Nigro, Vincenzo; May, Halie J.; Tao, James X.; Argilli, Emanuela; Sherr, Elliot H.; Dobyns, William B.; Baines, Richard A.; Warwicker, Jim; Parker, J. Alex; Banka, Siddharth; Campeau, Philippe M.; Escayg, Andrew 分享 收藏
Mammalian RNase H1 directs RNA primer formation for mtDNA replication initiation and is also necessary for mtDNA replication completion Misic, Jelena; Milenkovic, Dusanka; Al-Behadili, Ali; Xie, Xie; Jiang, Min; Jiang, Shan; Filograna, Roberta; Koolmeister, Camilla; Siira, Stefan J.; Jenninger, Louise; Filipovska, Aleksandra; Clausen, Anders R.; Caporali, Leonardo; Valentino, Maria Lucia; La Morgia, Chiara; Carelli, Valerio; Nicholls, Thomas J.; Wredenberg, Anna; Falkenberg, Maria; Larsson, Nils-Goran 分享 收藏
Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications Rosenhahn, Erik; O'Brien, Thomas J.; Zaki, Maha S.; Sorge, Ina; Wieczorek, Dagmar; Rostasy, Kevin; Vitobello, Antonio; Nambot, Sophie; Alkuraya, Fowzan S.; Hashem, Mais O.; Alhashem, Amal; Tabarki, Brahim; Alamri, Abdullah S.; Al Safar, Ayat H.; Bubshait, Dalal K.; Alahmady, Nada F.; Gleeson, Joseph G.; Abdel-Hamid, Mohamed S.; Lesko, Nicole; Ygberg, Sofia; Correia, Sandrina P.; Wredenberg, Anna; Alavi, Shahryar; Seyedhassani, Seyed M.; Nasab, Mahya Ebrahimi; Hussien, Haytham; Omar, Tarek E., I; Harzallah, Ines; Touraine, Renaud; Tajsharghi, Homa; Morsy, Heba; Houlden, Henry; Shahrooei, Mohammad; Ghavideldarestani, Maryam; Abdel-Salam, Ghada M. H.; Torella, Annalaura; Zanobio, Mariateresa; Terrone, Gaetano; Brunetti-Pierri, Nicola; Omrani, Abdolmajid; Hentschel, Julia; Lemke, Johannes R.; Sticht, Heinrich; Abou Jamra, Rami; Brown, Andre E. X.; Maroofian, Reza; Platzer, Konrad 分享 收藏
Pathogenic SLC25A26 variants impair SAH transport activity causing mitochondrial disease Schober, Florian A.; Tang, Jia Xin; Sergeant, Kate; Moedas, Marco F.; Zierz, Charlotte M.; Moore, David; Smith, Conrad; Lewis, David; Guha, Nishan; Hopton, Sila; Falkous, Gavin; Lam, Amanda; Pyle, Angela; Poulton, Joanna; Gorman, Grainne S.; Taylor, Robert W.; Freyer, Christoph; Wredenberg, Anna 分享 收藏
Novel Mutation m.10372A>G in MT-ND3 Causing Sensorimotor Axonal Polyneuropathy Bruhn, Helene; Samuelsson, Kristin; Schober, Florian A.; Engvall, Martin; Lesko, Nicole; Wibom, Rolf; Nennesmo, Inger; Calvo-Garrido, Javier; Press, Rayomand; Stranneheim, Henrik; Freyer, Christoph; Wedell, Anna; Wredenberg, Anna 分享 收藏
Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients 将全基因组测序整合到医疗环境中: 3219罕见病患者多个临床实体的高诊断率 Stranneheim, Henrik; Lagerstedt-Robinson, Kristina; Magnusson, Mans; Kvarnung, Malin; Nilsson, Daniel; Lesko, Nicole; Engvall, Martin; Anderlid, Britt-Marie; Arnell, Henrik; Johansson, Carolina Backman; Barbaro, Michela; Bjorck, Erik; Bruhn, Helene; Eisfeldt, Jesper; Freyer, Christoph; Grigelioniene, Giedre; Gustavsson, Peter; Hammarsjo, Anna; Hellstrom-Pigg, Maritta; Iwarsson, Erik; Jemt, Anders; Laaksonen, Mikael; Enoksson, Sara Lind; Malmgren, Helena; Naess, Karin; Nordenskjold, Magnus; Oscarson, Mikael; Pettersson, Maria; Rasi, Chiara; Rosenbaum, Adam; Sahlin, Ellika; Sardh, Eliane; Stodberg, Tommy; Tesi, Bianca; Tham, Emma; Thonberg, Hakan; Tohonen, Virpi; von Dobeln, Ulrika; Vassiliou, Daphne; Vonlanthen, Sofie; Wikstrom, Ann-Charlotte; Wincent, Josephine; Winqvist, Ola; Wredenberg, Anna; Ygberg, Sofia; Zetterstrom, Rolf H.; Marits, Per; Soller, Maria Johansson; Nordgren, Ann; Wirta, Valtteri; Lindstrand, Anna; Wedell, Anna 分享 收藏
The one-carbon pool controls mitochondrial energy metabolism via complex I and iron-sulfur clusters 一碳库通过复合物I和铁硫簇控制线粒体能量代谢 Schober, Florian A.; Moore, David; Atanassov, Ilian; Moedas, Marco F.; Clemente, Paula; Vegvari, Akos; El Fissi, Najla; Filograna, Roberta; Bucher, Anna-Lena; Hinze, Yvonne; The, Matthew; Hedman, Erik; Chernogubova, Ekaterina; Begzati, Arjana; Wibom, Rolf; Jain, Mohit; Nilsson, Roland; Kall, Lukas; Wedell, Anna; Freyer, Christoph; Wredenberg, Anna 分享 收藏
.png){kind=icon}
未登录.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
.png){kind=icon}
