Modelling Mitochondrial Disease in Human Pluripotent Stem Cells: What Have We Learned?

by Cameron L. McKnight, Yau Chung Low, David A. Elliott, David R. Thorburn, Ann E. Frazier
Published 2021-07-01

Neuronal and astrocyte dysfunction diverges from embryonic fibroblasts in the Ndufs4fky/fky mouse

by Matthew J. Bird, Xiaonan W. Wijeyeratne, Jasper C. Komen, Adrienne Laskowski, Michael T. Ryan, David R. Thorburn, Ann E. Frazier
Published 2014-11-01

Compound heterozygous mutations in glycyl-tRNA synthetase (GARS) cause mitochondrial respiratory chain dysfunction.

by Michael Nafisinia, Lisa G Riley, Wendy A Gold, Kaustuv Bhattacharya, Carolyn R Broderick, David R Thorburn, Cas Simons, John Christodoulou
Published 2017-01-01

Rapid identification of a novel complex I MT-ND3 m.10134C>A mutation in a Leigh syndrome patient.

by David K Miller, Minal J Menezes, Cas Simons, Lisa G Riley, Sandra T Cooper, Sean M Grimmond, David R Thorburn, John Christodoulou, Ryan J Taft
Published 2014-01-01

Cytosolic Recognition of RNA Drives the Immune Response to Heterologous Erythrocytes

by Claudia Loetsch, Joanna Warren, Adrienne Laskowski, Rodrigo Vazquez-Lombardi, Christoph Jandl, David B. Langley, Daniel Christ, David R. Thorburn, David K. Ryugo, Jonathan Sprent, Marcel Batten, Cecile King
Published 2017-11-01

Application of Genome Sequencing from Blood to Diagnose Mitochondrial Diseases

by Rocio Rius, Alison G. Compton, Naomi L. Baker, AnneMarie E. Welch, David Coman, Maina P. Kava, Andre E. Minoche, Mark J. Cowley, David R. Thorburn, John Christodoulou
Published 2021-04-01

Monolysocardiolipins accumulate in Barth syndrome but do not lead to enhanced apoptosis

by Fredoen Valianpour, Voula Mitsakos, Dimitri Schlemmer, Jeffrey A. Towbin, Juliet M. Taylor, Paul G. Ekert, David R. Thorburn, Arnold Munnich, Ronald J.A. Wanders, Peter G. Barth, Frédéric M. Vaz
Published 2005-06-01

Functional characterization of Friedreich ataxia iPS-derived neuronal progenitors and their integration in the adult brain.

by Matthew J Bird, Karina Needham, Ann E Frazier, Jorien van Rooijen, Jessie Leung, Shelley Hough, Mark Denham, Matthew E Thornton, Clare L Parish, Bryony A Nayagam, Martin Pera, David R Thorburn, Lachlan H Thompson, Mirella Dottori
Published 2014-01-01

Correction: Function of hTim8a in complex IV assembly in neuronal cells provides insight into pathomechanism underlying Mohr-Tranebjærg syndrome

by Yilin Kang, Alexander J Anderson, Thomas Daniel Jackson, Catherine S Palmer, David P De Souza, Kenji M Fujihara, Tegan Stait, Ann E Frazier, Nicholas J Clemons, Deidreia Tull, David R Thorburn, Malcolm J McConville, Michael T Ryan, David A Stroud, Diana Stojanovski
Published 2020-03-01

Function of hTim8a in complex IV assembly in neuronal cells provides insight into pathomechanism underlying Mohr-Tranebjærg syndrome

by Yilin Kang, Alexander J Anderson, Thomas Daniel Jackson, Catherine S Palmer, David P De Souza, Kenji M Fujihara, Tegan Stait, Ann E Frazier, Nicholas J Clemons, Deidreia Tull, David R Thorburn, Malcolm J McConville, Michael T Ryan, David A Stroud, Diana Stojanovski
Published 2019-11-01

MPV17 Loss Causes Deoxynucleotide Insufficiency and Slow DNA Replication in Mitochondria.

by Ilaria Dalla Rosa, Yolanda Cámara, Romina Durigon, Chloe F Moss, Sara Vidoni, Gokhan Akman, Lilian Hunt, Mark A Johnson, Sarah Grocott, Liya Wang, David R Thorburn, Michio Hirano, Joanna Poulton, Robert W Taylor, Greg Elgar, Ramon Martí, Peter Voshol, Ian J Holt, Antonella Spinazzola
Published 2016-01-01

Structural modeling of tissue-specific mitochondrial alanyl-tRNA synthetase (AARS2) defects predicts differential effects on aminoacylation

by Liliya eEuro, Svetlana eKonovalova, Jorge eAsin Cayuela, Már eTulinius, Helen eGriffin, Rita eHorvath, Robert W Taylor, Patrick F Chinnery, Ulrike eSchara, David R Thorburn, Anu eSuomalainen, Anu eSuomalainen, Joseph eChihade, Henna eTyynismaa, Henna eTyynismaa
Published 2015-02-01

Clinical Spectrum and Functional Consequences Associated with Bi-Allelic Pathogenic <i>PNPT1</i> Variants

by Rocio Rius, Nicole J. Van Bergen, Alison G. Compton, Lisa G. Riley, Maina P. Kava, Shanti Balasubramaniam, David J. Amor, Miriam Fanjul-Fernandez, Mark J. Cowley, Michael C. Fahey, Mary K. Koenig, Gregory M. Enns, Simon Sadedin, Meredith J. Wilson, Tiong Y. Tan, David R. Thorburn, John Christodoulou
Published 2019-11-01

Mutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expression.

by Elena J Tucker, Bas F J Wanschers, Radek Szklarczyk, Hayley S Mountford, Xiaonan W Wijeyeratne, Mariël A M van den Brand, Anne M Leenders, Richard J Rodenburg, Boris Reljić, Alison G Compton, Ann E Frazier, Damien L Bruno, John Christodoulou, Hitoshi Endo, Michael T Ryan, Leo G Nijtmans, Martijn A Huynen, David R Thorburn
Published 2013-01-01