Leigh syndrome: One disorder, more than 75 monogenic causes von Lake, Nicole J., Compton, Alison G., Rahman, Shamima, Thorburn, David R.

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Accessory subunits are integral for assembly and function of human mitochondrial complex I von Stroud, David A., Surgenor, Elliot E., Formosa, Luke E., Reljic, Boris, Frazier, Ann E., Dibley, Marris G., Osellame, Laura D., Stait, Tegan, Beilharz, Traude H., Thorburn, David R., Salim, Agus, Ryan, Michael T.

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IGF2BP2/IMP2-Deficient Mice Resist Obesity through Enhanced Translation of Ucp1 mRNA and Other mRNAs Encoding Mitochondrial Proteins von 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

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High-intensity training induces non-stoichiometric changes in the mitochondrial proteome of human skeletal muscle without reorganisation of respiratory chain content von Granata, Cesare, Caruana, Nikeisha J., Botella, Javier, Jamnick, Nicholas A., Huynh, Kevin, Kuang, Jujiao, Janssen, Hans A., Reljic, Boris, Mellett, Natalie A., Laskowski, Adrienne, Stait, Tegan L., Frazier, Ann E., Coughlan, Melinda T., Meikle, Peter J., Thorburn, David R., Stroud, David A., Bishop, David J.

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A SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disorders von Riley, Lisa G., Cowley, Mark J., Gayevskiy, Velimir, Roscioli, Tony, Thorburn, David R., Prelog, Kristina, Bahlo, Melanie, Sue, Carolyn M., Balasubramaniam, Shanti, Christodoulou, John

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Mitochondrial Respiratory Chain Supercomplexes Are Destabilized in Barth Syndrome Patients von McKenzie, Matthew, Lazarou, Michael, Thorburn, David R., Ryan, Michael T.

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Assembly of mitochondrial complex I and defects in disease von Lazarou, Michael, Thorburn, David R., Ryan, Michael T., McKenzie, Matthew

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High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency von Thorburn, David R, Mootha, Vamsi K, Calvo, Sarah E, Tucker, Elena J, Compton, Alison G, Kirby, Denise M, Crawford, Gabriel, Burtt, Noel P, Rivas, Manuel, Guiducci, Candace, Bruno, Damien L, Goldberger, Olga A, Redman, Michelle C, Wiltshire, Esko, Wilson, Callum J, Altshuler, David, Gabriel, Stacey B, Daly, Mark J

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RAGE-Induced Cytosolic ROS Promote Mitochondrial Superoxide Generation in Diabetes von COUGHLAN, Melinda T, THORBURN, David R, BROWNLEE, Michael, BIERHAUS, Angelika, COOPER, Mark E, FORBES, Josephine M, PENFOLD, Sally A, LASKOWSKI, Adrienne, HARCOURT, Brooke E, SOURRIS, Karly C, TAN, Adeline L. Y, FUKAMI, Kei, THALLAS-BONKE, Vicki, NAWROTH, Peter P

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COA6 is a mitochondrial complex IV assembly factor critical for biogenesis of mtDNA-encoded COX2 von Stroud, David A, Maher, Megan J, Lindau, Caroline, Vögtle, F-Nora, Frazier, Ann E, Surgenor, Elliot, Mountford, Hayley, Singh, Abeer P, Bonas, Matteo, Oeljeklaus, Silke, Warscheid, Bettina, Meisinger, Chris, Thorburn, David R, Ryan, Michael T

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Deficiency of the mitochondrial ribosomal subunit, MRPL50, causes autosomal recessive syndromic premature ovarian insufficiency von Bakhshalizadeh, Shabnam, Hock, Daniella H., Siddall, Nicole A., Kline, Brianna L., Sreenivasan, Rajini, Bell, Katrina M., Casagranda, Franca, Kamalanathan, Sadishkumar, Sahoo, Jayaprakash, Narayanan, Niya, Naik, Dukhabandhu, Suryadevara, Varun, Compton, Alison G., Amarasekera, Sumudu S. C., Kapoor, Ridam, Jaillard, Sylvie, Simpson, Andrea, Robevska, Gorjana, van den Bergen, Jocelyn, Pachernegg, Svenja, Ayers, Katie L., Thorburn, David R., Stroud, David A., Hime, Gary R., Sinclair, Andrew H., Tucker, Elena J.

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A micro-costing study of mass-spectrometry based quantitative proteomics testing applied to the diagnostic pipeline of mitochondrial and other rare disorders von Santos Gonzalez, Francisco, Hock, Daniella H, Thorburn, David R, Mordaunt, Dylan, Williamson, Nicholas A, Ang, Ching-Seng, Stroud, David A, Christodoulou, John, Goranitis, Ilias

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Mitochondrial dysfunction in diabetic kidney disease von Forbes, Josephine M., Thorburn, David R.

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Characterization of mitochondrial FOXRED1 in the assembly of respiratory chain complex I von Formosa, Luke E, Mimaki, Masakazu, Frazier, Ann E, McKenzie, Matthew, Stait, Tegan L, Thorburn, David R, Stroud, David A, Ryan, Michael T

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Mutations in MTFMT Underlie a Human Disorder of Formylation Causing Impaired Mitochondrial Translation von Tucker, Elena J., Hershman, Steven G., Köhrer, Caroline, Belcher-Timme, Casey A., Patel, Jinal, Goldberger, Olga A., Christodoulou, John, Silberstein, Jonathon M., McKenzie, Matthew, Ryan, Michael T., Compton, Alison G., Jaffe, Jacob D., Carr, Steven A., Calvo, Sarah E., RajBhandary, Uttam L., Thorburn, David R., Mootha, Vamsi K.

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Analysis of the Assembly Profiles for Mitochondrial- and Nuclear-DNA-Encoded Subunits into Complex I von Lazarou, Michael, McKenzie, Matthew, Ohtake, Akira, Thorburn, David R., Ryan, Michael T.

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Mitochondrial biology and dysfunction in secondary mitochondrial disease von Baker, Megan J, Crameri, Jordan J, Thorburn, David R, Frazier, Ann E, Stojanovski, Diana

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MPV17 Loss Causes Deoxynucleotide Insufficiency and Slow DNA Replication in Mitochondria von Dalla Rosa, Ilaria, Cámara, Yolanda, Durigon, Romina, Moss, Chloe F, Vidoni, Sara, Akman, Gokhan, Hunt, Lilian, Johnson, Mark A, Grocott, Sarah, Wang, Liya, Thorburn, David R, Hirano, Michio, Poulton, Joanna, Taylor, Robert W, Elgar, Greg, Martí, Ramon, Voshol, Peter, Holt, Ian J, Spinazzola, Antonella

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Mutations in CYC1, Encoding Cytochrome c1 Subunit of Respiratory Chain Complex III, Cause Insulin-Responsive Hyperglycemia von Gaignard, Pauline, Menezes, Minal, Schiff, Manuel, Bayot, Aurélien, Rak, Malgorzata, Ogier de Baulny, Hélène, Su, Chen-Hsien, Gilleron, Mylene, Lombes, Anne, Abida, Heni, Tzagoloff, Alexander, Riley, Lisa, Cooper, Sandra T., Mina, Kym, Sivadorai, Padma, Davis, Mark R., Allcock, Richard J.N., Kresoje, Nina, Laing, Nigel G., Thorburn, David R., Slama, Abdelhamid, Christodoulou, John, Rustin, Pierre

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Mutations in LYRM4, encoding iron-sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes von Lim, Sze Chern, Friemel, Martin, Marum, Justine E, Tucker, Elena J, Bruno, Damien L, Riley, Lisa G, Christodoulou, John, Kirk, Edwin P, Boneh, Avihu, DeGennaro, Christine M, Springer, Michael, Mootha, Vamsi K, Rouault, Tracey A, Leimkühler, Silke, Thorburn, David R, Compton, Alison G

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