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

Single-cell multi-omic analysis of mitochondrial mutational mosaicism and dynamics

线粒体突变嵌合体及其动态的单细胞多组学分析

Hsieh, Yu-Hsin; Kautz, Pauline; Nitsch, Lena; Giguelay, Ambre M; Liebold, Janet; Dimitrova, Veronika; Contreras Castillo, Stephania; Jungen, Freya; Zsurka, Gabor; Trombly, Genevieve; Schuelke, Markus; Kunz, Wolfram S; Lareau, Caleb A; Ludwig, Leif S

Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes

对 20979 名癫痫患者的外显子组测序揭示了不同疾病亚型之间共同的和独特的超罕见遗传风险

Chen, Siwei; Abou-Khalil, Bassel W; Afawi, Zaid; Ali, Quratulain Zulfiqar; Amadori, Elisabetta; Anderson, Alison; Anderson, Joe; Andrade, Danielle M; Annesi, Grazia; Arslan, Mutluay; Auce, Pauls; Bahlo, Melanie; Baker, Mark D; Balagura, Ganna; Balestrini, Simona; Banks, Eric; Barba, Carmen; Barboza, Karen; Bartolomei, Fabrice; Bass, Nick; Baum, Larry W; Baumgartner, Tobias H; Baykan, Betül; Bebek, Nerses; Becker, Felicitas; Bennett, Caitlin A; Beydoun, Ahmad; Bianchini, Claudia; Bisulli, Francesca; Blackwood, Douglas; Blatt, Ilan; Borggräfe, Ingo; Bosselmann, Christian; Braatz, Vera; Brand, Harrison; Brockmann, Knut; Buono, Russell J; Busch, Robyn M; Caglayan, S Hande; Canafoglia, Laura; Canavati, Christina; Castellotti, Barbara; Cavalleri, Gianpiero L; Cerrato, Felecia; Chassoux, Francine; Cherian, Christina; Cherny, Stacey S; Cheung, Ching-Lung; Chou, I-Jun; Chung, Seo-Kyung; Churchhouse, Claire; Ciullo, Valentina; Clark, Peggy O; Cole, Andrew J; Cosico, Mahgenn; Cossette, Patrick; Cotsapas, Chris; Cusick, Caroline; Daly, Mark J; Davis, Lea K; Jonghe, Peter De; Delanty, Norman; Dennig, Dieter; Depondt, Chantal; Derambure, Philippe; Devinsky, Orrin; Di Vito, Lidia; Dickerson, Faith; Dlugos, Dennis J; Doccini, Viola; Doherty, Colin P; El-Naggar, Hany; Ellis, Colin A; Epstein, Leon; Evans, Meghan; Faucon, Annika; Feng, Yen-Chen Anne; Ferguson, Lisa; Ferraro, Thomas N; Da Silva, Izabela Ferreira; Ferri, Lorenzo; Feucht, Martha; Fields, Madeline C; Fitzgerald, Mark; Fonferko-Shadrach, Beata; Fortunato, Francesco; Franceschetti, Silvana; French, Jacqueline A; Freri, Elena; Fu, Jack M; Gabriel, Stacey; Gagliardi, Monica; Gambardella, Antonio; Gauthier, Laura; Giangregorio, Tania; Gili, Tommaso; Glauser, Tracy A; Goldberg, Ethan; Goldman, Alica; Goldstein, David B; Granata, Tiziana; Grant, Riley; Greenberg, David A; Guerrini, Renzo; Gundogdu-Eken, Aslı; Gupta, Namrata; Haas, Kevin; Hakonarson, Hakon; Haryanyan, Garen; Häusler, Martin; Hegde, Manu; Heinzen, Erin L; Helbig, Ingo; Hengsbach, Christian; Heyne, Henrike; Hirose, Shinichi; Hirsch, Edouard; Ho, Chen-Jui; Hoeper, Olivia; Howrigan, Daniel P; Hucks, Donald; Hung, Po-Chen; Iacomino, Michele; Inoue, Yushi; Inuzuka, Luciana Midori; Ishii, Atsushi; Jehi, Lara; Johnson, Michael R; Johnstone, Mandy; Kälviäinen, Reetta; Kanaan, Moien; Kara, Bulent; Kariuki, Symon M; Kegele, Josua; Kesim, Yeşim; Khoueiry-Zgheib, Nathalie; Khoury, Jean; King, Chontelle; Klein, Karl Martin; Kluger, Gerhard; Knake, Susanne; Kok, Fernando; Korczyn, Amos D; Korinthenberg, Rudolf; Koupparis, Andreas; Kousiappa, Ioanna; Krause, Roland; Krenn, Martin; Krestel, Heinz; Krey, Ilona; Kunz, Wolfram S; Kurlemann, Gerhard; Kuzniecky, Ruben I; Kwan, Patrick; La Vega-Talbott, Maite; Labate, Angelo; Lacey, Austin; Lal, Dennis; Laššuthová, Petra; Lauxmann, Stephan; Lawthom, Charlotte; Leech, Stephanie L; Lehesjoki, Anna-Elina; Lemke, Johannes R; Lerche, Holger; Lesca, Gaetan; Leu, Costin; Lewin, Naomi; Lewis-Smith, David; Li, Gloria Hoi-Yee; Liao, Calwing; Licchetta, Laura; Lin, Chih-Hsiang; Lin, Kuang-Lin; Linnankivi, Tarja; Lo, Warren; Lowenstein, Daniel H; Lowther, Chelsea; Lubbers, Laura; Lui, Colin H T; Macedo-Souza, Lucia Inês; Madeleyn, Rene; Madia, Francesca; Magri, Stefania; Maillard, Louis; Marcuse, Lara; Marques, Paula; Marson, Anthony G; Matthews, Abigail G; May, Patrick; Mayer, Thomas; McArdle, Wendy; McCarroll, Steven M; McGoldrick, Patricia; McGraw, Christopher M; McIntosh, Andrew; McQuillan, Andrew; Meador, Kimford J; Mei, Davide; Michel, Véronique; Millichap, John J; Minardi, Raffaella; Montomoli, Martino; Mostacci, Barbara; Muccioli, Lorenzo; Muhle, Hiltrud; Müller-Schlüter, Karen; Najm, Imad M; Nasreddine, Wassim; Neaves, Samuel; Neubauer, Bernd A; Newton, Charles R J C; Noebels, Jeffrey L; Northstone, Kate; Novod, Sam; O'Brien, Terence J; Owusu-Agyei, Seth; Özkara, Çiğdem; Palotie, Aarno; Papacostas, Savvas S; Parrini, Elena; Pato, Carlos; Pato, Michele; Pendziwiat, Manuela; Pennell, Page B; Petrovski, Slavé; Pickrell, William O; Pinsky, Rebecca; Pinto, Dalila; Pippucci, Tommaso; Piras, Fabrizio; Piras, Federica; Poduri, Annapurna; Pondrelli, Federica; Posthuma, Danielle; Powell, Robert H W; Privitera, Michael; Rademacher, Annika; Ragona, Francesca; Ramirez-Hamouz, Byron; Rau, Sarah; Raynes, Hillary R; Rees, Mark I; Regan, Brigid M; Reif, Andreas; Reinthaler, Eva; Rheims, Sylvain; Ring, Susan M; Riva, Antonella; Rojas, Enrique; Rosenow, Felix; Ryvlin, Philippe; Saarela, Anni; Sadleir, Lynette G; Salman, Barış; Salmon, Andrea; Salpietro, Vincenzo; Sammarra, Ilaria; Scala, Marcello; Schachter, Steven; Schaller, André; Schankin, Christoph J; Scheffer, Ingrid E; Schneider, Natascha; Schubert-Bast, Susanne; Schulze-Bonhage, Andreas; Scudieri, Paolo; Sedláčková, Lucie; Shain, Catherine; Sham, Pak C; Shiedley, Beth R; Siena, S Anthony; Sills, Graeme J; Sisodiya, Sanjay M; Smoller, Jordan W; Solomonson, Matthew; Spalletta, Gianfranco; Sparks, Kathryn R; Sperling, Michael R; Stamberger, Hannah; Steinhoff, Bernhard J; Stephani, Ulrich; Štěrbová, Katalin; Stewart, William C; Stipa, Carlotta; Striano, Pasquale; Strzelczyk, Adam; Surges, Rainer; Suzuki, Toshimitsu; Talarico, Mariagrazia; Talkowski, Michael E; Taneja, Randip S; Tanteles, George A; Timonen, Oskari; Timpson, Nicholas John; Tinuper, Paolo; Todaro, Marian; Topaloglu, Pınar; Tsai, Meng-Han; Tumiene, Birute; Turkdogan, Dilsad; Uğur-İşeri, Sibel; Utkus, Algirdas; Vaidiswaran, Priya; Valton, Luc; van Baalen, Andreas; Vari, Maria Stella; Vetro, Annalisa; Vlčková, Markéta; von Brauchitsch, Sophie; von Spiczak, Sarah; Wagner, Ryan G; Watts, Nick; Weber, Yvonne G; Weckhuysen, Sarah; Widdess-Walsh, Peter; Wiebe, Samuel; Wolf, Steven M; Wolff, Markus; Wolking, Stefan; Wong, Isaac; von Wrede, Randi; Wu, David; Yamakawa, Kazuhiro; Yapıcı, Zuhal; Yis, Uluc; Yolken, Robert; Yücesan, Emrah; Zagaglia, Sara; Zahnert, Felix; Zara, Federico; Zimprich, Fritz; Zizovic, Milena; Zsurka, Gábor; Neale, Benjamin M; Berkovic, Samuel F

The Fate of Oxidative Strand Breaks in Mitochondrial DNA

线粒体 DNA 氧化链断裂的命运

Genevieve Trombly, Afaf Milad Said, Alexei P Kudin, Viktoriya Peeva, Janine Altmüller, Kerstin Becker, Karl Köhrer, Gábor Zsurka, Wolfram S Kunz

Defective lipid signalling caused by mutations in PIK3C2B underlies focal epilepsy

PIK3C2B基因突变导致的脂质信号传导缺陷是局灶性癫痫的根本原因。

Luca Gozzelino ,Gaga Kochlamazashvili ,Sara Baldassari ,Albert Ian Mackintosh ,Laura Licchetta ,Emanuela Iovino ,Yu Chi Liu ,Caitlin A Bennett ,Mark F Bennett ,John A Damiano ,Gábor Zsurka ,Caterina Marconi ,Tania Giangregorio ,Pamela Magini ,Marijn Kuijpers ,Tanja Maritzen ,Giuseppe Danilo Norata ,Stéphanie Baulac ,Laura Canafoglia ,Marco Seri ,Paolo Tinuper ,Ingrid E Scheffer ,Melanie Bahlo ,Samuel F Berkovic ,Michael S Hildebrand ,Wolfram S Kunz ,Lucio Giordano ,Francesca Bisulli ,Miriam Martini ,Volker Haucke ,Emilio Hirsch ,Tommaso Pippucci

Defective lipid signalling caused by mutations in PIK3C2B underlies focal epilepsy

PIK3C2B基因突变导致的脂质信号传导缺陷是局灶性癫痫的根本原因。

Luca Gozzelino,Gaga Kochlamazashvili,Sara Baldassari,Albert Ian Mackintosh,Laura Licchetta,Emanuela Iovino,Yu Chi Liu ,Caitlin A Bennett,Mark F Bennett ,John A Damiano,Gábor Zsurka,Caterina Marconi,Tania Giangregorio,Pamela Magini,Marijn Kuijpers,Tanja Maritzen,Giuseppe Danilo Norata,Stéphanie Baulac,Laura Canafoglia,Marco Seri,Paolo Tinuper,Ingrid E Scheffer ,Melanie Bahlo,Samuel F Berkovic,Michael S Hildebrand,Wolfram S Kunz,Lucio Giordano,Francesca Bisulli,Miriam Martini,Volker Haucke,Emilio Hirsch,Tommaso Pippucci  0

Replication fork rescue in mammalian mitochondria

哺乳动物线粒体的复制叉拯救

Rubén Torregrosa-Muñumer, Anu Hangas, Steffi Goffart, Daniel Blei, Gábor Zsurka, Jack Griffith, Wolfram S Kunz, Jaakko L O Pohjoismäki

Linear mitochondrial DNA is rapidly degraded by components of the replication machinery

线性线粒体 DNA 被复制机制的组件快速降解

Viktoriya Peeva, Daniel Blei, Genevieve Trombly, Sarah Corsi, Maciej J Szukszto, Pedro Rebelo-Guiomar, Payam A Gammage, Alexei P Kudin, Christian Becker, Janine Altmüller, Michal Minczuk, Gábor Zsurka, Wolfram S Kunz

Linear mtDNA fragments and unusual mtDNA rearrangements associated with pathological deficiency of MGME1 exonuclease

与 MGME1 核酸外切酶病理缺陷相关的线性 mtDNA 片段和不寻常的 mtDNA 重排

Thomas J Nicholls, Gábor Zsurka, Viktoriya Peeva, Susanne Schöler, Roman J Szczesny, Dominik Cysewski, Aurelio Reyes, Cornelia Kornblum, Monica Sciacco, Maurizio Moggio, Andrzej Dziembowski, Wolfram S Kunz, Michal Minczuk

Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease

MGME1 的功能丧失突变会损害线粒体 DNA 复制并导致多系统线粒体疾病

Cornelia Kornblum, Thomas J Nicholls, Tobias B Haack, Susanne Schöler, Viktoriya Peeva, Katharina Danhauser, Kerstin Hallmann, Gábor Zsurka, Joanna Rorbach, Arcangela Iuso, Thomas Wieland, Monica Sciacco, Dario Ronchi, Giacomo P Comi, Maurizio Moggio, Catarina M Quinzii, Salvatore DiMauro, Sarah E C

Inheritance of mitochondrial DNA recombinants in double-heteroplasmic families: potential implications for phylogenetic analysis

双异质体家族中线粒体 DNA 重组体的遗传:对系统发育分析的潜在影响

Gábor Zsurka, Kevin G Hampel, Tatiana Kudina, Cornelia Kornblum, Yevgenia Kraytsberg, Christian E Elger, Konstantin Khrapko, Wolfram S Kunz