Severe clinical manifestation of mitochondrial disease due to the m.3243A>T variant: a case report of early-onset, multi-organ involvement and premature death by Hannah Gillespie, Yi Shiau Ng, Katrina M. Wood, Sila Hopton, Charlotte L. Alston, Emma L. Blakely, Nick Thompson, Robert W. Taylor, Andrew C. Browning, Robert McFarland, John A. Sayer

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Bi‐allelic pathogenic variants in NDUFC2 cause early‐onset Leigh syndrome and stalled biogenesis of complex I by Ahmad Alahmad, Alessia Nasca, Juliana Heidler, Kyle Thompson, Monika Oláhová, Andrea Legati, Eleonora Lamantea, Jana Meisterknecht, Manuela Spagnolo, Langping He, Seham Alameer, Fahad Hakami, Abeer Almehdar, Anna Ardissone, Charlotte L Alston, Robert McFarland, Ilka Wittig, Daniele Ghezzi, Robert W Taylor

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mtDNA heteroplasmy level and copy number indicate disease burden in m.3243A>G mitochondrial disease by John P Grady, Sarah J Pickett, Yi Shiau Ng, Charlotte L Alston, Emma L Blakely, Steven A Hardy, Catherine L Feeney, Alexandra A Bright, Andrew M Schaefer, Gráinne S Gorman, Richard JQ McNally, Robert W Taylor, Doug M Turnbull, Robert McFarland

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Defective i6A37 modification of mitochondrial and cytosolic tRNAs results from pathogenic mutations in TRIT1 and its substrate tRNA. by John W Yarham, Tek N Lamichhane, Angela Pyle, Sandy Mattijssen, Enrico Baruffini, Francesco Bruni, Claudia Donnini, Alex Vassilev, Langping He, Emma L Blakely, Helen Griffin, Mauro Santibanez-Koref, Laurence A Bindoff, Ileana Ferrero, Patrick F Chinnery, Robert McFarland, Richard J Maraia, Robert W Taylor

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OXA1L mutations cause mitochondrial encephalopathy and a combined oxidative phosphorylation defect by Kyle Thompson, Nicole Mai, Monika Oláhová, Filippo Scialó, Luke E Formosa, David A Stroud, Madeleine Garrett, Nichola Z Lax, Fiona M Robertson, Cristina Jou, Andres Nascimento, Carlos Ortez, Cecilia Jimenez‐Mallebrera, Steven A Hardy, Langping He, Garry K Brown, Paula Marttinen, Robert McFarland, Alberto Sanz, Brendan J Battersby, Penelope E Bonnen, Michael T Ryan, Zofia MA Chrzanowska‐Lightowlers, Robert N Lightowlers, Robert W Taylor

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Pathological variants in TOP3A cause distinct disorders of mitochondrial and nuclear genome stability by Direnis Erdinc, Alejandro Rodríguez‐Luis, Mahmoud R Fassad, Sarah Mackenzie, Christopher M Watson, Sebastian Valenzuela, Xie Xie, Katja E Menger, Kate Sergeant, Kate Craig, Sila Hopton, Gavin Falkous, Genomics England Research Consortium, Joanna Poulton, Hector Garcia‐Moreno, Paola Giunti, Carlos A de Moura Aschoff, Jonas A Morales Saute, Amelia J Kirby, Camilo Toro, Lynne Wolfe, Danica Novacic, Lior Greenbaum, Aviva Eliyahu, Ortal Barel, Yair Anikster, Robert McFarland, Gráinne S Gorman, Andrew M Schaefer, Claes M Gustafsson, Robert W Taylor, Maria Falkenberg, Thomas J Nicholls

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Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseases by Daniella H. Hock, Nikeisha J. Caruana, Liana N. Semcesen, Nicole J. Lake, Luke E. Formosa, Sumudu S. C. Amarasekera, Tegan Stait, Simone Tregoning, Leah E. Frajman, Adam M. Bournazos, David R. L. Robinson, Megan Ball, Boris Reljic, Bryony Ryder, Mathew J. Wallis, Anand Vasudevan, Cara Beck, Heidi Peters, Joy Lee, Natalie B. Tan, Mary-Louise Freckmann, MitoMDT Diagnostic Network for Genomics and Omics, Vasiliki Karlaftis, Chantal Attard, Paul Monagle, Amanda Samarasinghe, Rosie Brown, Weimin Bi, Monkol Lek, Robert McFarland, Robert W. Taylor, Michael T. Ryan, Sandra T. Cooper, Zornitza Stark, John Christodoulou, Alison G. Compton, David R. Thorburn, David A. Stroud

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