Mitochondrial energy generation disorders: genes, mechanisms, and clues to pathology

por Frazier, Ann E., Thorburn, David R., Compton, Alison G.
Publicado no J Biol Chem (2019)

Analysis of the Assembly Profiles for Mitochondrial- and Nuclear-DNA-Encoded Subunits into Complex I

por Lazarou, Michael, McKenzie, Matthew, Ohtake, Akira, Thorburn, David R., Ryan, Michael T.
Publicado em 2007

Thiamine-Responsive and Non-responsive Patients with PDHC-E1 Deficiency: A Retrospective Assessment

por van Dongen, Sanne, Brown, Ruth M., Brown, Garry K., Thorburn, David R., Boneh, Avihu
Publicado no JIMD Rep (2014)

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

por McKnight, Cameron L., Low, Yau Chung, Elliott, David A., Thorburn, David R., Frazier, Ann E.
Publicado no Int J Mol Sci (2021)

Neuronal and astrocyte dysfunction diverges from embryonic fibroblasts in the Ndufs4(fky/fky) mouse

por Bird, Matthew J., Wijeyeratne, Xiaonan W., Komen, Jasper C., Laskowski, Adrienne, Ryan, Michael T., Thorburn, David R., Frazier, Ann E.
Publicado no Biosci Rep (2014)

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

por Nafisinia, Michael, Riley, Lisa G., Gold, Wendy A., Bhattacharya, Kaustuv, Broderick, Carolyn R., Thorburn, David R., Simons, Cas, Christodoulou, John
Publicado no PLoS One (2017)

Mitochondrial Respiratory Chain Hepatopathies: Role of Liver Transplantation. A Case Series of Five Patients

por De Greef, Elisabeth, Christodoulou, John, Alexander, Ian E, Shun, Albert, O’Loughlin, Edward V, Thorburn, David R, Jermyn, Vicki, Stormon, Michael O
Publicado em 2011

Rapid Identification of a Novel Complex I MT-ND3 m.10134C>A Mutation in a Leigh Syndrome Patient

por Miller, David K., Menezes, Minal J., Simons, Cas, Riley, Lisa G., Cooper, Sandra T., Grimmond, Sean M., Thorburn, David R., Christodoulou, John, Taft, Ryan J.
Publicado em 2014

HIGD2A is Required for Assembly of the COX3 Module of Human Mitochondrial Complex IV

por Hock, Daniella H., Reljic, Boris, Ang, Ching-Seng, Muellner-Wong, Linden, Mountford, Hayley S., Compton, Alison G., Ryan, Michael T., Thorburn, David R., Stroud, David A.
Publicado no Mol Cell Proteomics (2020)

Whole-exome sequencing identifies novel variants in PNPT1 causing oxidative phosphorylation defects and severe multisystem disease

por Alodaib, Ahmad, Sobreira, Nara, Gold, Wendy A, Riley, Lisa G, Van Bergen, Nicole J, Wilson, Meredith J, Bennetts, Bruce, Thorburn, David R, Boehm, Corinne, Christodoulou, John
Publicado no Eur J Hum Genet (2017)

Application of Genome Sequencing from Blood to Diagnose Mitochondrial Diseases

por Rius, Rocio, Compton, Alison G., Baker, Naomi L., Welch, AnneMarie E., Coman, David, Kava, Maina P., Minoche, Andre E., Cowley, Mark J., Thorburn, David R., Christodoulou, John
Publicado no Genes (Basel) (2021)

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

por Euro, Liliya, Konovalova, Svetlana, Asin-Cayuela, Jorge, Tulinius, Már, Griffin, Helen, Horvath, Rita, Taylor, Robert W., Chinnery, Patrick F., Schara, Ulrike, Thorburn, David R., Suomalainen, Anu, Chihade, Joseph, Tyynismaa, Henna
Publicado no Front Genet (2015)

A patient with homozygous nonsense variants in two Leigh syndrome disease genes: distinguishing a dual diagnosis from a hypomorphic protein-truncating variant

por Lake, Nicole J., Formosa, Luke E., Stroud, David A., Ryan, Michael T., Calvo, Sarah E., Mootha, Vamsi K., Morar, Bharti, Procopis, Peter G, Christodoulou, John, Compton, Alison G., Thorburn, David R.
Publicado no Hum Mutat (2019)

NDUFS6 mutations are a novel cause of lethal neonatal mitochondrial complex I deficiency

por Kirby, Denise M., Salemi, Renato, Sugiana, Canny, Ohtake, Akira, Parry, Lee, Bell, Katrina M., Kirk, Edwin P., Boneh, Avihu, Taylor, Robert W., Dahl, Hans-Henrik M., Ryan, Michael T., Thorburn, David R.
Publicado em 2004

IGF2BP2/IMP2 Deficient Mice Resist Obesity through enhanced translation of Ucp1 mRNA and other mRNAs encoding Mitochondrial Proteins

por Dai, Ning, Zhao, Liping, Wrighting, Diedra, Krämer, Dana, Majithia, Amit, Wang, Yanqun, Cracan, Valentin, Borges-Rivera, Diego, Mootha, Vamsi K., Nahrendorf, Matthias, Thorburn, David R., Minichiello, Liliana, Altshuler, David, Avruch, Joseph
Publicado no Cell Metab (2015)

Whole Exome Sequencing Identifies the Genetic Basis of Late-Onset Leigh Syndrome in a Patient with MRI but Little Biochemical Evidence of a Mitochondrial Disorder

por Nafisinia, Michael, Guo, Yiran, Dang, Xiao, Li, Jiankang, Chen, Yulan, Zhang, Jianguo, Lake, Nicole J., Gold, Wendy A., Riley, Lisa G., Thorburn, David R., Keating, Brendan, Xu, Xun, Hakonarson, Hakon, Christodoulou, John
Publicado no JIMD Rep (2016)

Early diagnosis of Pearson syndrome in neonatal intensive care following rapid mitochondrial genome sequencing in tandem with exome sequencing

por Akesson, Lauren S., Eggers, Stefanie, Love, Clare J., Chong, Belinda, Krzesinski, Emma I., Brown, Natasha J., Tan, Tiong Y., Richmond, Christopher M., Thorburn, David R., Christodoulou, John, Hunter, Matthew F., Lunke, Sebastian, Stark, Zornitza
Publicado no Eur J Hum Genet (2019)

The TIM22 complex mediates the import of sideroflexins and is required for efficient mitochondrial one-carbon metabolism

por Jackson, Thomas D., Hock, Daniella H., Fujihara, Kenji M., Palmer, Catherine S., Frazier, Ann E., Low, Yau C., Kang, Yilin, Ang, Ching-Seng, Clemons, Nicholas J., Thorburn, David R., Stroud, David A., Stojanovski, Diana
Publicado no Mol Biol Cell (2021)

Biallelic IARS2 mutations presenting as sideroblastic anemia

por Barcia, Giulia, Pandithan, Dinusha, Ruzzenente, Benedetta, Assouline, Zahra, Pennisi, Alessandra, Ormieres, Clothilde, Besmond, Claude, Roux, Charles-Joris, Boddaert, Nathalie, Desguerre, Isabelle, Thorburn, David R., Bratkovic, Drago, Munnich, Arnold, Bonnefont, Jean-Paul, Rötig, Agnès, Steffann, Julie
Publicado no Haematologica (2021)

Evidence for the toxicity of bidirectional transcripts and mitochondrial dysfunction in blood associated with small CGG expansions in the FMR1 gene in patients with parkinsonism

por Loesch, Danuta Z., Godler, David E., Evans, Andrew, Bui, Quang M., Gehling, Freya, Kotschet, Katya E., Trost, Nicholas, Storey, Elsdon, Stimpson, Paige, Kinsella, Glynda, Francis, David, Thorburn, David R., Venn, Alison, Slater, Howard R., Horne, Malcolm
Publicado em 2011