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Rare and common genetic determinants of mitochondrial function determine severity but not risk of amyotrophic lateral sclerosis Harvey, Calum; Weinreich, Marcel; Lee, James A. K.; Shaw, Allan C.; Ferraiuolo, Laura; Mortiboys, Heather; Zhang, Sai; Hop, Paul J.; Zwamborn, Ramona A. J.; van Eijk, Kristel; Julian, Thomas H.; Moll, Tobias; Iacoangeli, Alfredo; Al Khleifat, Ahmad; Quinn, John P.; Pfaff, Abigail L.; Koks, Sulev; Poulton, Joanna; Battle, Stephanie L.; Arking, Dan E.; Snyder, Michael P.; Veldink, Jan H.; Kenna, Kevin P.; Shaw, Pamela J.; Cooper-Knock, Johnathan Share Save
Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability Erdinc, Direnis; Rodriguez-Luis, Alejandro; Fassad, Mahmoud R.; Mackenzie, Sarah; Watson, Christopher M.; Valenzuela, Sebastian; Xie, Xie; Menger, Katja E.; Sergeant, Kate; Craig, Kate; Hopton, Sila; Falkous, Gavin; Poulton, Joanna; Garcia-Moreno, Hector; Giunti, Paola; Aschoff, Carlos A. de Moura; Saute, Jonas A. Morales; Kirby, Amelia J.; Toro, Camilo; Wolfe, Lynne; Novacic, Danica; Greenbaum, Lior; Eliyahu, Aviva; Barel, Ortal; Anikster, Yair; McFarland, Robert; Gorman, Grainne S.; Schaefer, Andrew M.; Gustafsson, Claes M.; Taylor, Robert W.; Falkenberg, Maria; Nicholls, Thomas J. Share Save
OMA1 mediates local and global stress responses against protein misfolding in CHCHD10 mitochondrial Shammas, Mario K.; Huang, Xiaoping; Wu, Beverly P.; Fessler, Evelyn; Song, Insung Y.; Randolph, Nicholas P.; Li, Yan; Bleck, Christopher K. E.; Springer, Danielle A.; Fratter, Carl; Barbosa, Ines A.; Powers, Andrew F.; Quiros, Pedro M.; Lopez-Otin, Carlos; Jae, Lucas T.; Poulton, Joanna; Narendra, Derek P. Share Save
Forecasting stroke-like episodes and outcomes in mitochondrial disease Ng, Yi Shiau; Lax, Nichola Z.; Blain, Alasdair P.; Erskine, Daniel; Baker, Mark R.; Polvikoski, Tuomo; Thomas, Rhys H.; Morris, Christopher M.; Lai, Ming; Whittaker, Roger G.; Gebbels, Alasdair; Winder, Amy; Hall, Julie; Feeney, Catherine; Farrugia, Maria Elena; Hirst, Claire; Roberts, Mark; Lawthom, Charlotte; Chrysostomou, Alexia; Murphy, Kevin; Baird, Tracey; Maddison, Paul; Duncan, Callum; Poulton, Joanna; Nesbitt, Victoria; Hanna, Michael G.; Pitceathly, Robert D. S.; Taylor, Robert W.; Blakely, Emma L.; Schaefer, Andrew M.; Turnbull, Doug M.; McFarland, Robert; Gorman, Grainne S. Share Save
Acetyl-leucine slows disease progression in lysosomal storage disorders Kaya, Ecem; Smith, David A.; Smith, Claire; Morris, Lauren; Bremova-Ertl, Tatiana; Cortina-Borja, Mario; Fineran, Paul; Morten, Karl J.; Poulton, Joanna; Boland, Barry; Spencer, John; Strupp, Michael; Platt, Frances M. Share Save
Metabolic shift underlies recovery in reversible infantile respiratory chain deficiency Hathazi, Denisa; Griffin, Helen; Jennings, Matthew J.; Giunta, Michele; Powell, Christopher; Pearce, Sarah F.; Munro, Benjamin; Wei, Wei; Boczonadi, Veronika; Poulton, Joanna; Pyle, Angela; Calabrese, Claudia; Gomez-Duran, Aurora; Schara, Ulrike; Pitceathly, Robert D. S.; Hanna, Michael G.; Joost, Kairit; Cotta, Ana; Paim, Julia Filardi; Navarro, Monica Machado; Duff, Jennifer; Mattmann, Andre; Chapman, Kristine; Servidei, Serenella; Della Marina, Adela; Uusimaa, Johanna; Roos, Andreas; Mootha, Vamsi; Hirano, Michio; Tulinius, Mar; Giri, Manta; Hoffmann, Eric P.; Lochmuller, Hanns; DiMauro, Salvatore; Minczuk, Michal; Chinnery, Patrick F.; Muller, Juliane S.; Horvath, Rita Share Save
Unbiased yeast screens identify cellular pathways affected in Niemann-Pick disease type C Colaco, Alexandria; Fernandez-Suarez, Maria E.; Shepherd, Dawn; Gal, Lihi; Bibi, Chen; Chuartzman, Silvia; Diot, Alan; Morten, Karl; Eden, Emily; Porter, Forbes D.; Poulton, Joanna; Platt, Nick; Schuldiner, Maya; Platt, Frances M. Share Save
Loss of CHCHD2 and CHCHD10 activates OMA1 peptidase to disrupt mitochondrial cristae phenocopying patient mutations Liu, Yi-Ting; Huang, Xiaoping; Nguyen, Diana; Shammas, Mario K.; Wu, Beverly P.; Dombi, Eszter; Springer, Danielle A.; Poulton, Joanna; Sekine, Shiori; Narendra, Derek P. Share Save
Pathogenic variants in MT-ATP6: A United Kingdom-based mitochondrial disease cohort study Ng, Yi Shiau; Martikainen, Mika H.; Gorman, Grainne S.; Blain, Alasdair; Bugiardini, Enrico; Bunting, Apphia; Schaefer, Andrew M.; Alston, Charlotte L.; Blakely, Emma L.; Sharma, Sunil; Hughes, Imelda; Lim, Albert; de Goede, Christian; McEntagart, Meriel; Spinty, Stefan; Horrocks, Iain; Roberts, Mark; Woodward, Cathy E.; Chinnery, Patrick F.; Horvath, Rita; Nesbitt, Victoria; Fratter, Carl; Poulton, Joanna; Hanna, Michael G.; Pitceathly, Robert D. S.; Taylor, Robert W.; Turnbull, Doug M.; McFarland, Robert Share Save
Safety and Efficacy of Erythrocyte Encapsulated Thymidine Phosphorylase in Mitochondrial Neurogastrointestinal Encephalomyopathy Levene, Michelle; Bain, Murray D.; Moran, Nicholas F.; Nirmalananthan, Niranjanan; Poulton, Joanna; Scarpelli, Mauro; Filosto, Massimiliano; Mandel, Hanna; MacKinnon, Andrew D.; Fairbanks, Lynette; Pacitti, Dario; Bax, Bridget E. Share Save
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A new approach to find biomarkers in chronic fatigue syndrome/myalgic encephalomyelitis (CFS/ME) by single-cell Raman micro-spectroscopy (vol 144, pg 913, 2019) Xu, Jiabao; Potter, Michelle; Tomas, Cara; Elson, Joanna L.; Morten, Karl J.; Poulton, Joanna; Wang, Ning; Jin, Hanqing; Hou, Zhaoxu; Huang, Wei E. Share Save
A new approach to find biomarkers in chronic fatigue syndrome/myalgic encephalomyelitis (CFS/ME) by single-cell Raman micro-spectroscopy Xu, Jiabao; Potter, Michelle; Tomas, Cara; Elson, Joanna L.; Morten, Karl J.; Poulton, Joanna; Wang, Ning; Jin, Hanqing; Hou, Zhaoxu; Huang, Wei E. Share Save
A Wars2 Mutant Mouse Model Displays OXPHOS Deficiencies and Activation of Tissue-Specific Stress Response Pathways Agnew, Thomas; Goldsworthy, Michelle; Aguilar, Carlos; Morgan, Anna; Simon, Michelle; Hilton, Helen; Esapa, Chris; Wu, Yixing; Cater, Heather; Bentley, Liz; Scudamore, Cheryl; Poulton, Joanna; Morten, Karl J.; Thompson, Kyle; He, Langping; Brown, Steve D. M.; Taylor, Robert W.; Bowl, Michael R.; Cox, Roger D. Share Save
Bi-allelic Mutations in NDUFA6 Establish Its Role in Early-Onset Isolated Mitochondrial Complex I Deficiency Alston, Charlotte L.; Heidler, Juliana; Dibley, Marris G.; Kremer, Laura S.; Taylor, Lucie S.; Fratter, Carl; French, Courtney E.; Glasgow, Ruth I. C.; Feichtinger, Rene G.; Delon, Isabelle; Pagnamenta, Alistair T.; Dolling, Helen; Lemonde, Hugh; Aiton, Neil; Bjornstad, Alf; Henneke, Lisa; Gaertner, Jutta; Thiele, Holger; Tauchmannova, Katerina; Quaghebeur, Gerardine; Houstek, Josef; Sperl, Wolfgang; Raymond, F. Lucy; Prokisch, Holger; Mayr, Johannes A.; McFarland, Robert; Poulton, Joanna; Ryan, Michael T.; Wittig, Ilka; Henneke, Marco; Taylor, Robert W. Share Save
The Mitochondrion-lysosome Axis in Adaptive and Innate Immunity: Effect of Lupus Regulator Peptide P140 on Mitochondria Autophagy and NETosis Bendorius, Mykolas; Neeli, Indira; Wang, Fengjuan; Bonam, Srinivasa Reddy; Dombi, Eszter; Buron, Nelly; Borgne-Sanchez, Annie; Poulton, Joanna; Radic, Marko; Muller, Sylviane Share Save
De novo DNM1L mutation associated with mitochondrial epilepsy syndrome with fever sensitivity Ladds, Emma; Whitney, Andrea; Dombi, Eszter; Hofer, Monika; Anand, Geetha; Harrison, Victoria; Fratter, Carl; Carver, Janet; Barbosa, Ines A.; Simpson, Michael; Jayawant, Sandeep; Poulton, Joanna Share Save
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