Search Results - "Thorburn, David R."

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

“…Leigh syndrome is the most common pediatric presentation of mitochondrial disease. This neurodegenerative disorder is genetically heterogeneous, and to date…”
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Accessory subunits are integral for assembly and function of human mitochondrial complex I by 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.

“…Gene-editing technology and large-scale proteomics are used to provide insights into the modular assembly of the human mitochondrial respiratory chain complex…”
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IGF2BP2/IMP2-Deficient Mice Resist Obesity through Enhanced Translation of Ucp1 mRNA and Other mRNAs Encoding Mitochondrial Proteins by 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

“…Although variants in the IGF2BP2/IMP2 gene confer risk for type 2 diabetes, IMP2, an RNA binding protein, is not known to regulate metabolism. Imp2−/− mice…”
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Mapping time-course mitochondrial adaptations in the kidney in experimental diabetes by Coughlan, Melinda T, Nguyen, Tuong-Vi, Penfold, Sally A, Higgins, Gavin C, Thallas-Bonke, Vicki, Tan, Sih Min, Van Bergen, Nicole J, Sourris, Karly C, Harcourt, Brooke E, Thorburn, David R, Trounce, Ian A, Cooper, Mark E, Forbes, Josephine M

“…Oxidative phosphorylation (OXPHOS) drives ATP production by mitochondria, which are dynamic organelles, constantly fusing and dividing to maintain kidney…”
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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 by 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.

“…Mitochondrial defects are implicated in multiple diseases and aging. Exercise training is an accessible, inexpensive therapeutic intervention that can improve…”
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A SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disorders by Riley, Lisa G., Cowley, Mark J., Gayevskiy, Velimir, Roscioli, Tony, Thorburn, David R., Prelog, Kristina, Bahlo, Melanie, Sue, Carolyn M., Balasubramaniam, Shanti, Christodoulou, John

“…Summary SLC39A8 variants have recently been reported to cause a type II congenital disorder of glycosylation (CDG) in patients with intellectual disability and…”
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Assembly of mitochondrial complex I and defects in disease by Lazarou, Michael, Thorburn, David R., Ryan, Michael T., McKenzie, Matthew

“…Isolated complex I deficiency is the most common cause of respiratory chain dysfunction. Defects in human complex I result in energy generation disorders and…”
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Mitochondrial Respiratory Chain Supercomplexes Are Destabilized in Barth Syndrome Patients by McKenzie, Matthew, Lazarou, Michael, Thorburn, David R., Ryan, Michael T.

“…Mutations in the human TAZ gene are associated with Barth Syndrome, an often fatal X-linked disorder that presents with cardiomyopathy and neutropenia. The TAZ…”
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RAGE-Induced Cytosolic ROS Promote Mitochondrial Superoxide Generation in Diabetes by 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

“…Damaged mitochondria generate an excess of superoxide, which may mediate tissue injury in diabetes. We hypothesized that in diabetic nephropathy, advanced…”
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High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency by 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

“…Vamsi Mootha and colleagues report high-throughput targeted sequencing of 103 candidate genes in 103 individuals with human mitochondrial complex I deficiency…”
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COA6 is a mitochondrial complex IV assembly factor critical for biogenesis of mtDNA-encoded COX2 by 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

“…Biogenesis of complex IV of the mitochondrial respiratory chain requires assembly factors for subunit maturation, co-factor attachment and stabilization of…”
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Characterization of mitochondrial FOXRED1 in the assembly of respiratory chain complex I by Formosa, Luke E, Mimaki, Masakazu, Frazier, Ann E, McKenzie, Matthew, Stait, Tegan L, Thorburn, David R, Stroud, David A, Ryan, Michael T

“…Human mitochondrial complex I is the largest enzyme of the respiratory chain and is composed of 44 different subunits. Complex I subunits are encoded by both…”
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Analysis of the Assembly Profiles for Mitochondrial- and Nuclear-DNA-Encoded Subunits into Complex I by Lazarou, Michael, McKenzie, Matthew, Ohtake, Akira, Thorburn, David R., Ryan, Michael T.

“…Article Usage Stats Services MCB Citing Articles Google Scholar PubMed Related Content Social Bookmarking CiteULike Delicious Digg Facebook Google+ Mendeley…”
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Mitochondrial biology and dysfunction in secondary mitochondrial disease by Baker, Megan J, Crameri, Jordan J, Thorburn, David R, Frazier, Ann E, Stojanovski, Diana

“…Mitochondrial diseases are a broad, genetically heterogeneous class of metabolic disorders characterized by deficits in oxidative phosphorylation (OXPHOS)…”
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Mutations in MTFMT Underlie a Human Disorder of Formylation Causing Impaired Mitochondrial Translation by 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.

“…The metazoan mitochondrial translation machinery is unusual in having a single tRNAMet that fulfills the dual role of the initiator and elongator tRNAMet. A…”
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Modelling Mitochondrial Disease in Human Pluripotent Stem Cells: What Have We Learned? by McKnight, Cameron L, Low, Yau Chung, Elliott, David A, Thorburn, David R, Frazier, Ann E

“…Mitochondrial diseases disrupt cellular energy production and are among the most complex group of inherited genetic disorders. Affecting approximately 1 in…”
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Diagnosis of 'possible' mitochondrial disease: an existential crisis by Parikh, Sumit, Karaa, Amel, Goldstein, Amy, Bertini, Enrico Silvio, Chinnery, Patrick F, Christodoulou, John, Cohen, Bruce H, Davis, Ryan L, Falk, Marni J, Fratter, Carl, Horvath, Rita, Koenig, Mary Kay, Mancuso, Michaelangelo, McCormack, Shana, McCormick, Elizabeth M, McFarland, Robert, Nesbitt, Victoria, Schiff, Manuel, Steele, Hannah, Stockler, Silvia, Sue, Carolyn, Tarnopolsky, Mark, Thorburn, David R, Vockley, Jerry, Rahman, Shamima

“…Primary genetic mitochondrial diseases are often difficult to diagnose, and the term 'possible' mitochondrial disease is used frequently by clinicians when…”
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Mutations in LYRM4, encoding iron-sulfur cluster biogenesis factor ISD11, cause deficiency of multiple respiratory chain complexes by 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

“…Iron-sulfur clusters (ISCs) are important prosthetic groups that define the functions of many proteins. Proteins with ISCs (called iron-sulfur or Fe-S…”
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Deficiency of the mitochondrial ribosomal subunit, MRPL50, causes autosomal recessive syndromic premature ovarian insufficiency by 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.

“…Premature ovarian insufficiency (POI) is a common cause of infertility in women, characterised by amenorrhea and elevated FSH under the age of 40 years. In…”
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Biochemical Assays of Respiratory Chain Complex Activity by Kirby, Denise M., Thorburn, David R., Turnbull, Douglass M., Taylor, Robert W.

“…This chapter focuses on the biochemical assays of the respiratory chain (RC) complex activity. It presents the preparation of mitochondrial fractions from…”
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