Search Results - "TURNBULL, Douglass M"

Mitochondrial morphology, topology, and membrane interactions in skeletal muscle: a quantitative three-dimensional electron microscopy study by Picard, Martin, White, Kathryn, Turnbull, Douglass M

“…Dynamic remodeling of mitochondrial morphology through membrane dynamics are linked to changes in mitochondrial and cellular function. Although mitochondrial…”
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Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease by Gorman, Gráinne S., Schaefer, Andrew M., Ng, Yi, Gomez, Nicholas, Blakely, Emma L., Alston, Charlotte L., Feeney, Catherine, Horvath, Rita, Yu-Wai-Man, Patrick, Chinnery, Patrick F., Taylor, Robert W., Turnbull, Douglass M., McFarland, Robert

“…Objective The prevalence of mitochondrial disease has proven difficult to establish, predominantly as a result of clinical and genetic heterogeneity. The…”
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A neurological perspective on mitochondrial disease by McFarland, Robert, MRCPCH, Taylor, Robert W, Prof, Turnbull, Douglass M, Prof

“…Summary Disruption of the most fundamental cellular energy process, the mitochondrial respiratory chain, results in a diverse and variable group of multisystem…”
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Towards clinical application of pronuclear transfer to prevent mitochondrial DNA disease by Hyslop, Louise A., Blakeley, Paul, Craven, Lyndsey, Richardson, Jessica, Fogarty, Norah M. E., Fragouli, Elpida, Lamb, Mahdi, Wamaitha, Sissy E., Prathalingam, Nilendran, Zhang, Qi, O’Keefe, Hannah, Takeda, Yuko, Arizzi, Lucia, Alfarawati, Samer, Tuppen, Helen A., Irving, Laura, Kalleas, Dimitrios, Choudhary, Meenakshi, Wells, Dagan, Murdoch, Alison P., Turnbull, Douglass M., Niakan, Kathy K., Herbert, Mary

“…Preclinical evaluation and optimization of mitochondrial replacement therapy reveals that a modified form of pronuclear transfer is likely to give rise to…”
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Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies by Taylor, Robert W, Pyle, Angela, Griffin, Helen, Blakely, Emma L, Duff, Jennifer, He, Langping, Smertenko, Tania, Alston, Charlotte L, Neeve, Vivienne C, Best, Andrew, Yarham, John W, Kirschner, Janbernd, Schara, Ulrike, Talim, Beril, Topaloglu, Haluk, Baric, Ivo, Holinski-Feder, Elke, Abicht, Angela, Czermin, Birgit, Kleinle, Stephanie, Morris, Andrew A. M, Vassallo, Grace, Gorman, Grainne S, Ramesh, Venkateswaran, Turnbull, Douglass M, Santibanez-Koref, Mauro, McFarland, Robert, Horvath, Rita, Chinnery, Patrick F

“…IMPORTANCE: Mitochondrial disorders have emerged as a common cause of inherited disease, but their diagnosis remains challenging. Multiple respiratory chain…”
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Assessing mitochondrial heteroplasmy using next generation sequencing: A note of caution by Santibanez-Koref, Mauro, Griffin, Helen, Turnbull, Douglass M, Chinnery, Patrick F, Herbert, Mary, Hudson, Gavin

“…The mitochondrial genome has recently become the focus of several high-impact next-generation sequencing studies investigating the effect of mutations in…”
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Neural Stem Cells in the Adult Subventricular Zone Oxidize Fatty Acids to Produce Energy and Support Neurogenic Activity by Stoll, Elizabeth A., Makin, Rebecca, Sweet, Ian R., Trevelyan, Andrew J., Miwa, Satomi, Horner, Philip J., Turnbull, Douglass M.

“…Neural activity is tightly coupled to energy consumption, particularly sugars such as glucose. However, we find that, unlike mature neurons and astrocytes,…”
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Prevalence of mitochondrial DNA disease in adults by Schaefer, Andrew M., McFarland, Robert, Blakely, Emma L., He, Langping, Whittaker, Roger G., Taylor, Robert W., Chinnery, Patrick F., Turnbull, Douglass M.

“…Objective Diverse and variable clinical features, a loose genotype–phenotype relationship, and presentation to different medical specialties have all hindered…”
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Pronuclear transfer in human embryos to prevent transmission of mitochondrial DNA disease by Herbert, Mary, Turnbull, Douglass M, Craven, Lyndsey, Tuppen, Helen A, Greggains, Gareth D, Harbottle, Stephen J, Murphy, Julie L, Cree, Lynsey M, Murdoch, Alison P, Chinnery, Patrick F, Taylor, Robert W, Lightowlers, Robert N

“…Mutations in mitochondrial DNA (mtDNA) are a common cause of genetic disease. Pathogenic mutations in mtDNA are detected in approximately 1 in 250 live births…”
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Genetic and biochemical intricacy shapes mitochondrial cytopathies by Turnbull, Douglass M, Rustin, Pierre

“…Abstract The major progress made in the identification of the molecular bases of mitochondrial disease has revealed the huge diversity of their origin. Today…”
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Acute exercise remodels mitochondrial membrane interactions in mouse skeletal muscle by Picard, Martin, Gentil, Benoit J, McManus, Meagan J, White, Kathryn, St Louis, Kyle, Gartside, Sarah E, Wallace, Douglas C, Turnbull, Douglass M

“…A unique property of mitochondria in mammalian cells is their ability to physically interact and undergo dynamic events of fusion/fission that remodel their…”
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Mitochondrial Dysfunction and Lipid Accumulation in the Human Diaphragm during Mechanical Ventilation by PICARD, Martin, JUNG, Boris, MATECKI, Stefan, JABER, Samir, DES ROSIERS, Christine, KARPATI, George, FERRI, Lorenzo, BURELLE, Yan, TURNBULL, Douglass M, TAIVASSALO, Tanja, PETROF, Basil J, FENG LIANG, AZUELOS, Ilan, HUSSAIN, Sabah, GOLDBERG, Peter, CODIN, Richard, DANIALOU, Gawiyou, CHATURVEDI, Rakesh, RYGIEL, Karolina

“…Mechanical ventilation (MV) is associated with adverse effects on the diaphragm, but the cellular basis for this phenomenon, referred to as ventilator-induced…”
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Clonal expansion of early to mid-life mitochondrial DNA point mutations drives mitochondrial dysfunction during human ageing by Greaves, Laura C, Nooteboom, Marco, Elson, Joanna L, Tuppen, Helen A L, Taylor, Geoffrey A, Commane, Daniel M, Arasaradnam, Ramesh P, Khrapko, Konstantin, Taylor, Robert W, Kirkwood, Thomas B L, Mathers, John C, Turnbull, Douglass M

“…Age-related decline in the integrity of mitochondria is an important contributor to the human ageing process. In a number of ageing stem cell populations, this…”
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Impact of Age-Related Mitochondrial Dysfunction and Exercise on Intestinal Microbiota Composition by Houghton, David, Stewart, Christopher J, Stamp, Craig, Nelson, Andrew, Aj Ami, Nadim J, Petrosino, Joseph F, Wipat, Anil, Trenell, Michael I, Turnbull, Douglass M, Greaves, Laura C

“…Mitochondrial dysfunction is prevalent in the aging gastrointestinal tract. We investigated whether mitochondrial function in aging colonic crypts and exercise…”
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Expression analysis of dopaminergic neurons in Parkinson’s disease and aging links transcriptional dysregulation of energy metabolism to cell death by Elstner, Matthias, Morris, Christopher M., Heim, Katharina, Bender, Andreas, Mehta, Divya, Jaros, Evelyn, Klopstock, Thomas, Meitinger, Thomas, Turnbull, Douglass M., Prokisch, Holger

“…Dopaminergic (DA) neuron degeneration is a feature of brain aging but is markedly increased in patients with Parkinson’s disease (PD). Recent data indicate…”
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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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The challenges of mitochondrial replacement by Chinnery, Patrick F, Craven, Lyndsey, Mitalipov, Shoukhrat, Stewart, James B, Herbert, Mary, Turnbull, Douglass M

“…  [...]the experiments using the animal model closest to man have not shown any adverse effects from mitochondrial transfer. [...]from the mitochondrial DNA…”
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Clinical Features, Molecular Heterogeneity, and Prognostic Implications in YARS2-Related Mitochondrial Myopathy by Sommerville, Ewen W, Ng, Yi Shiau, Alston, Charlotte L, Dallabona, Cristina, Gilberti, Micol, He, Langping, Knowles, Charlotte, Chin, Sophie L, Schaefer, Andrew M, Falkous, Gavin, Murdoch, David, Longman, Cheryl, de Visser, Marianne, Bindoff, Laurence A, Rawles, John M, Dean, John C S, Petty, Richard K, Farrugia, Maria E, Haack, Tobias B, Prokisch, Holger, McFarland, Robert, Turnbull, Douglass M, Donnini, Claudia, Taylor, Robert W, Gorman, Gráinne S

“…YARS2 mutations have been associated with a clinical triad of myopathy, lactic acidosis, and sideroblastic anemia in predominantly Middle Eastern populations…”
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The epidemiology of mitochondrial disorders—past, present and future by Schaefer, Andrew M., Taylor, Robert W., Turnbull, Douglass M., Chinnery, Patrick F.

“…A number of epidemiological studies of mitochondrial disease have been carried out over the last decade, clearly demonstrating that mitochondrial disorders are…”
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Mechanisms of Field Cancerization in the Human Stomach: The Expansion and Spread of Mutated Gastric Stem Cells by McDonald, Stuart A.C, Greaves, Laura C, Gutierrez–Gonzalez, Lydia, Rodriguez–Justo, Manuel, Deheragoda, Maesha, Leedham, Simon J, Taylor, Robert W, Lee, Chung Yin, Preston, Sean L, Lovell, Matthew, Hunt, Toby, Elia, George, Oukrif, Dahmane, Harrison, Rebecca, Novelli, Marco R, Mitchell, Ian, Stoker, David L, Turnbull, Douglass M, Jankowski, Janusz A.Z, Wright, Nicholas A

“…Background & Aims: How mutations are established and spread through the human stomach is unclear because the clonal structure of gastric mucosal units is…”
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