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

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

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