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Recurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number
Thompson, Kyle, Majd, Homa, Dallabona, Cristina, Reinson, Karit, King, Martin S., Alston, Charlotte L., He, Langping, Lodi, Tiziana, Jones, Simon A., Fattal-Valevski, Aviva, Fraenkel, Nitay D., Saada, Ann, Haham, Alon, Isohanni, Pirjo, Vara, Roshni, Barbosa, Inês A., Simpson, Michael A., Deshpande, Charu, Puusepp, Sanna, Bonnen, Penelope E., Rodenburg, Richard J., Suomalainen, Anu, Õunap, Katrin, Elpeleg, Orly, Ferrero, Ileana, McFarland, Robert, Kunji, Edmund R.S., Taylor, Robert W.
Published in American journal of human genetics (06.10.2016)
Published in American journal of human genetics (06.10.2016)
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Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies
Metodiev, Metodi D., Thompson, Kyle, Alston, Charlotte L., Morris, Andrew A.M., He, Langping, Assouline, Zarah, Rio, Marlène, Bahi-Buisson, Nadia, Pyle, Angela, Griffin, Helen, Siira, Stefan, Filipovska, Aleksandra, Munnich, Arnold, Chinnery, Patrick F., McFarland, Robert, Rötig, Agnès, Taylor, Robert W.
Published in American journal of human genetics (05.05.2016)
Published in American journal of human genetics (05.05.2016)
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Mutations in FBXL4 Cause Mitochondrial Encephalopathy and a Disorder of Mitochondrial DNA Maintenance
Bonnen, Penelope E., Yarham, John W., Besse, Arnaud, Wu, Ping, Faqeih, Eissa A., Al-Asmari, Ali Mohammad, Saleh, Mohammad A.M., Eyaid, Wafaa, Hadeel, Alrukban, He, Langping, Smith, Frances, Yau, Shu, Simcox, Eve M., Miwa, Satomi, Donti, Taraka, Abu-Amero, Khaled K., Wong, Lee-Jun, Craigen, William J., Graham, Brett H., Scott, Kenneth L., McFarland, Robert, Taylor, Robert W.
Published in American journal of human genetics (05.09.2013)
Published in American journal of human genetics (05.09.2013)
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Mutation of the iron-sulfur cluster assembly gene IBA57 causes severe myopathy and encephalopathy
Ajit Bolar, Nikhita, Vanlander, Arnaud Vincent, Wilbrecht, Claudia, Van der Aa, Nathalie, Smet, Joél, De Paepe, Boel, Vandeweyer, Geert, Kooy, Frank, Eyskens, François, De Latter, Elien, Delanghe, Gwenda, Govaert, Paul, Leroy, Jules Gerard, Loeys, Bart, Lill, Roland, Van Laer, Lut, Van Coster, Rudy
Published in Human molecular genetics (01.07.2013)
Published in Human molecular genetics (01.07.2013)
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A novel immunofluorescent assay to investigate oxidative phosphorylation deficiency in mitochondrial myopathy: understanding mechanisms and improving diagnosis
Rocha, Mariana C., Grady, John P., Grünewald, Anne, Vincent, Amy, Dobson, Philip F., Taylor, Robert W., Turnbull, Doug M., Rygiel, Karolina A.
Published in Scientific reports (15.10.2015)
Published in Scientific reports (15.10.2015)
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Apolipoprotein E4 Domain Interaction Mediates Detrimental Effects on Mitochondria and Is a Potential Therapeutic Target for Alzheimer Disease
Chen, Hung-Kai, Ji, Zhong-Sheng, Dodson, Sara E., Miranda, Rene D., Rosenblum, Charles I., Reynolds, Ian J., Freedman, Stephen B., Weisgraber, Karl H., Huang, Yadong, Mahley, Robert W.
Published in The Journal of biological chemistry (18.02.2011)
Published in The Journal of biological chemistry (18.02.2011)
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The role of mitochondrial electron transport in tumorigenesis and metastasis
Tan, An S., Baty, James W., Berridge, Michael V.
Published in Biochimica et biophysica acta (01.04.2014)
Published in Biochimica et biophysica acta (01.04.2014)
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Quantitative protein profiling of hippocampus during human aging
Xu, Benhong, Gao, Yanpan, Zhan, Shaohua, Xiong, Feng, Qiu, Wenying, Qian, Xiaojing, Wang, Tao, Wang, Naili, Zhang, Di, Yang, Qian, Wang, Renzhi, Bao, Xinjie, Dou, Wanchen, Tian, Rui, Meng, Shu, Gai, Wei-Ping, Huang, Yue, Yan, Xiao-Xin, Ge, Wei, Ma, Chao
Published in Neurobiology of aging (01.03.2016)
Published in Neurobiology of aging (01.03.2016)
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Mitochondrial DNA–Deletion Mutations Accumulate Intracellularly to Detrimental Levels in Aged Human Skeletal Muscle Fibers
Bua, Entela, Johnson, Jody, Herbst, Allen, Delong, Bridget, McKenzie, Debbie, Salamat, Shahriar, Aiken, Judd M.
Published in American journal of human genetics (01.09.2006)
Published in American journal of human genetics (01.09.2006)
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Determining the Control Circuitry of Redox Metabolism at the Genome-Scale
Federowicz, Stephen, Kim, Donghyuk, Ebrahim, Ali, Lerman, Joshua, Nagarajan, Harish, Cho, Byung-kwan, Zengler, Karsten, Palsson, Bernhard
Published in PLoS genetics (01.04.2014)
Published in PLoS genetics (01.04.2014)
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Defects in multiple complexes of the respiratory chain are present in ageing human colonic crypts
Greaves, Laura C., Barron, Martin J., Plusa, Stefan, Kirkwood, Thomas B., Mathers, John C., Taylor, Robert W., Turnbull, Doug M.
Published in Experimental gerontology (01.08.2010)
Published in Experimental gerontology (01.08.2010)
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Milder clinical course of Type IV 3-methylglutaconic aciduria due to a novel mutation in TMEM70
Shchelochkov, Oleg A., Li, Fang-Yuan, Wang, Jing, Zhan, Hongli, Towbin, Jeffrey A., Jefferies, John Lynn, Wong, Lee-Jun, Scaglia, Fernando
Published in Molecular genetics and metabolism (01.10.2010)
Published in Molecular genetics and metabolism (01.10.2010)
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Sulfide oxidation, nitrate respiration, carbon acquisition, and electron transport pathways suggested by the draft genome of a single orange Guaymas Basin Beggiatoa (Cand. Maribeggiatoa) sp. filament
MacGregor, Barbara J., Biddle, Jennifer F., Harbort, Christopher, Matthysse, Ann G., Teske, Andreas
Published in Marine genomics (01.09.2013)
Published in Marine genomics (01.09.2013)
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Muscle 3243A→G mutation load and capacity of the mitochondrial energy-generating system
Janssen, Antoon J. M., Schuelke, Markus, Smeitink, Jan A. M., Trijbels, Frans J. M., Sengers, Rob C. A., Lucke, Barbara, Wintjes, Liesbeth T. M., Morava, Eva, van Engelen, Baziel G. M., Smits, Bart W., Hol, Frans A., Siers, Marloes H., Ter Laak, Henk, van der Knaap, Marjo S., Van Spronsen, Francjan J., Rodenburg, Richard J. T., van den Heuvel, Lambert P.
Published in Annals of neurology (01.04.2008)
Published in Annals of neurology (01.04.2008)
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Microarray analysis of sexually dimorphic gene expression in human minor salivary glands
Michael, D, Soi, S, Cabera-Perez, J, Weller, M, Alexander, S, Alevizos, I, Illei, GG, Chiorini, JA
Published in Oral diseases (01.10.2011)
Published in Oral diseases (01.10.2011)
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Mitochondria in Sporadic Amyotrophic Lateral Sclerosis
Swerdlow, Russell H., Parks, Janice K., Cassarino, David S., Trimmer, Patricia A., Miller, Scott W., Maguire, David J., Sheehan, Jason P., Maguire, Robyn S., Pattee, Gary, Juel, Vern C., Phillips, Lawrence H., Tuttle, Jeremy B., Bennett, James P., Davis, Robert E., Parker, W.Davis
Published in Experimental neurology (01.09.1998)
Published in Experimental neurology (01.09.1998)
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Orchestrated downregulation of genes involved in oxidative metabolic pathways in obese vs. lean high-fat young male consumers
Marrades, M. Pilar, González-Muniesa, Pedro, Arteta, David, Martínez, J. Alfredo, Moreno-Aliaga, Maria Jesus
Published in Journal of physiology and biochemistry (01.03.2011)
Published in Journal of physiology and biochemistry (01.03.2011)
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