Ethically utilising COVID-19 host-genomic data

by Christopher Gyngell, John Christodoulou, Julian Savulescu
Published 2021-05-01

High-resolution ex vivo NMR spectroscopy of human Z α1-antitrypsin

by Alistair M. Jagger, Christopher A. Waudby, James A. Irving, John Christodoulou, David A. Lomas
Published 2020-12-01

The long and winding road: perspectives of people and parents of children with mitochondrial conditions negotiating management after diagnosis

by Janet C. Long, Stephanie Best, Sarah Hatem, Tahlia Theodorou, Toni Catton, Sean Murray, Jeffrey Braithwaite, John Christodoulou
Published 2021-07-01

In-cell NMR characterization of the secondary structure populations of a disordered conformation of α-synuclein within E. coli cells.

by Christopher A Waudby, Carlo Camilloni, Anthony W P Fitzpatrick, Lisa D Cabrita, Christopher M Dobson, Michele Vendruscolo, John Christodoulou
Published 2013-01-01

Whole exome sequencing reveals a de novo missense variant in EEF1A2 in a Rett syndrome‐like patient

by Simranpreet Kaur, Nicole J. Van Bergen, Wendy Anne Gold, Stefanie Eggers, Sebastian Lunke, Susan M. White, Carolyn Ellaway, John Christodoulou
Published 2019-12-01

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

Australian children living with rare diseases: experiences of diagnosis and perceived consequences of diagnostic delays

by Yvonne Zurynski, Marie Deverell, Troy Dalkeith, Sandra Johnson, John Christodoulou, Helen Leonard, Elizabeth J Elliott, APSU Rare Diseases Impacts on Families Study group
Published 2017-04-01

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

Abnormalities of mitochondrial dynamics and bioenergetics in neuronal cells from CDKL5 deficiency disorder

by Nicole J. Van Bergen, Sean Massey, Tegan Stait, Molly Ellery, Boris Reljić, Luke E. Formosa, Anita Quigley, Mirella Dottori, David Thorburn, David A. Stroud, John Christodoulou
Published 2021-07-01

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

Genotype and defects in microtubule-based motility correlate with clinical severity in KIF1A-associated neurological disorder

by Lia Boyle, Lu Rao, Simranpreet Kaur, Xiao Fan, Caroline Mebane, Laura Hamm, Andrew Thornton, Jared T. Ahrendsen, Matthew P. Anderson, John Christodoulou, Arne Gennerich, Yufeng Shen, Wendy K. Chung
Published 2021-04-01

Co-therapy with S-adenosylmethionine and nicotinamide riboside improves t-cell survival and function in Arts Syndrome (PRPS1 deficiency)

by Nina Lenherr, John Christodoulou, John Duley, Doreen Dobritzsch, Lynette Fairbanks, Alexandre N. Datta, Isabel Filges, Nicolas Gürtler, Jeroen Roelofsen, André B.P. van Kuilenburg, Claudia Kemper, Erin E. West, Gabor Szinnai, Martina Huemer
Published 2021-03-01

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

D25V apolipoprotein C-III variant causes dominant hereditary systemic amyloidosis and confers cardiovascular protective lipoprotein profile

by Sophie Valleix, Guglielmo Verona, Noémie Jourde-Chiche, Brigitte Nédelec, P. Patrizia Mangione, Frank Bridoux, Alain Mangé, Ahmet Dogan, Jean-Michel Goujon, Marie Lhomme, Carolane Dauteuille, Michèle Chabert, Riccardo Porcari, Christopher A. Waudby, Annalisa Relini, Philippa J. Talmud, Oleg Kovrov, Gunilla Olivecrona, Monica Stoppini, John Christodoulou, Philip N. Hawkins, Gilles Grateau, Marc Delpech, Anatol Kontush, Julian D. Gillmore, Athina D. Kalopissis, Vittorio Bellotti
Published 2016-01-01

Targeting the intrinsically disordered structural ensemble of α-synuclein by small molecules as a potential therapeutic strategy for Parkinson's disease.

by Gergely Tóth, Shyra J Gardai, Wagner Zago, Carlos W Bertoncini, Nunilo Cremades, Susan L Roy, Mitali A Tambe, Jean-Christophe Rochet, Celine Galvagnion, Gaia Skibinski, Steven Finkbeiner, Michael Bova, Karin Regnstrom, San-San Chiou, Jennifer Johnston, Kari Callaway, John P Anderson, Michael F Jobling, Alexander K Buell, Ted A Yednock, Tuomas P J Knowles, Michele Vendruscolo, John Christodoulou, Christopher M Dobson, Dale Schenk, Lisa McConlogue
Published 2014-01-01

Recessive mutations in ATP8A2 cause severe hypotonia, cognitive impairment, hyperkinetic movement disorders and progressive optic atrophy

by Hugh J. McMillan, Aida Telegrafi, Amanda Singleton, Megan T. Cho, Daniel Lelli, Francis C. Lynn, Julie Griffin, Alexander Asamoah, Tuula Rinne, Corrie E. Erasmus, David A. Koolen, Charlotte A. Haaxma, Boris Keren, Diane Doummar, Cyril Mignot, Islay Thompson, Lea Velsher, Mohammadreza Dehghani, Mohammad Yahya Vahidi Mehrjardi, Reza Maroofian, Michel Tchan, Cas Simons, John Christodoulou, Elena Martín-Hernández, Maria J. Guillen Sacoto, Lindsay B. Henderson, Heather McLaughlin, Laurie L. Molday, Robert S. Molday, Grace Yoon
Published 2018-05-01