Search Results - "PYLE, Angela"

Circulating cell-free mitochondrial DNA levels in Parkinson's disease are influenced by treatment by Lowes, Hannah, Pyle, Angela, Santibanez-Koref, Mauro, Hudson, Gavin

“…Several studies have linked circulating cell-free mitochondrial DNA (ccf-mtDNA) to human disease. In particular, reduced ccf-mtDNA levels in the cerebrospinal…”
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Segregation of mitochondrial DNA heteroplasmy through a developmental genetic bottleneck in human embryos by Floros, Vasileios I., Pyle, Angela, Dietmann, Sabine, Wei, Wei, Tang, Walfred C. W., Irie, Naoko, Payne, Brendan, Capalbo, Antonio, Noli, Laila, Coxhead, Jonathan, Hudson, Gavin, Crosier, Moira, Strahl, Henrik, Khalaf, Yacoub, Saitou, Mitinori, Ilic, Dusko, Surani, M. Azim, Chinnery, Patrick F.

“…Mitochondrial DNA (mtDNA) mutations cause inherited diseases and are implicated in the pathogenesis of common late-onset disorders, but how they arise is not…”
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Nanobiopsy investigation of the subcellular mtDNA heteroplasmy in human tissues by Bury, Alexander, Pyle, Angela, Vincent, Amy E., Actis, Paolo, Hudson, Gavin

“…Mitochondrial function is critical to continued cellular vitality and is an important contributor to a growing number of human diseases. Mitochondrial…”
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Somatic mtDNA variation is an important component of Parkinson's disease by Coxhead, Jonathan, Kurzawa-Akanbi, Marzena, Hussain, Rafiqul, Pyle, Angela, Chinnery, Patrick, Hudson, Gavin

“…Abstract There is a growing body of evidence linking mitochondrial dysfunction, mediated either through inherited mitochondrial DNA (mtDNA) variation or…”
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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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Reduced cerebrospinal fluid mitochondrial DNA is a biomarker for early-stage Parkinson's disease by Pyle, Angela, Brennan, Rebecca, Kurzawa-Akanbi, Marzena, Yarnall, Alison, Thouin, Anais, Mollenhauer, Brit, Burn, David, Chinnery, Patrick F., Hudson, Gavin

“…The identification of cell‐free circulating mitochondrial DNA (ccf‐mtDNA) in early‐stage Alzheimer's disease (AD) raised the possibility that the same…”
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Mitochondrial DNA changes in pedunculopontine cholinergic neurons in Parkinson disease by Bury, Alexander G., Pyle, Angela, Elson, Joanna L., Greaves, Laura, Morris, Christopher M., Hudson, Gavin, Pienaar, Ilse S.

“…In Parkinson disease (PD), mitochondrial dysfunction associates with nigral dopaminergic neuronal loss. Cholinergic neuronal loss co‐occurs, particularly…”
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metabolic profiling of Parkinson's disease and mild cognitive impairment by Burté, Florence, Houghton, David, Lowes, Hannah, Pyle, Angela, Nesbitt, Sarah, Yarnall, Alison, Yu‐Wai‐Man, Patrick, Burn, David J., Santibanez‐Koref, Mauro, Hudson, Gavin

“…ABSTRACT Background: Early diagnosis of Parkinson's disease and mild cognitive impairment is important to enable prompt treatment and improve patient welfare,…”
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Defective mitochondrial protease LonP1 can cause classical mitochondrial disease by Peter, Bradley, Waddington, Christie L, Oláhová, Monika, Sommerville, Ewen W, Hopton, Sila, Pyle, Angela, Champion, Michael, Ohlson, Monica, Siibak, Triinu, Chrzanowska-Lightowlers, Zofia M A, Taylor, Robert W, Falkenberg, Maria, Lightowlers, Robert N

“…Abstract LonP1 is a mitochondrial matrix protease whose selective substrate specificity is essential for maintaining mitochondrial homeostasis. Recessively…”
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Metabolic effects of bezafibrate in mitochondrial disease by Steele, Hannah, Gomez‐Duran, Aurora, Pyle, Angela, Hopton, Sila, Newman, Jane, Stefanetti, Renae J, Charman, Sarah J, Parikh, Jehill D, He, Langping, Viscomi, Carlo, Jakovljevic, Djordje G, Hollingsworth, Kieren G, Robinson, Alan J, Taylor, Robert W, Bottolo, Leonardo, Horvath, Rita, Chinnery, Patrick F

“…Mitochondrial disorders affect 1/5,000 and have no cure. Inducing mitochondrial biogenesis with bezafibrate improves mitochondrial function in animal models,…”
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Variant load of mitochondrial DNA in single human mesenchymal stem cells by Hipps, Daniel, Pyle, Angela, Porter, Anna L. R., Dobson, Philip F., Tuppen, Helen, Lawless, Conor, Russell, Oliver M., Turnbull, Doug M., Deehan, David J., Hudson, Gavin

“…Heteroplasmic mitochondrial DNA (mtDNA) variants accumulate as humans age, particularly in the stem-cell compartments, and are an important contributor to…”
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Recessive Mutations in TRMT10C Cause Defects in Mitochondrial RNA Processing and Multiple Respiratory Chain Deficiencies by 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.

“…Mitochondrial disorders are clinically and genetically diverse, with mutations in mitochondrial or nuclear genes able to cause defects in mitochondrial gene…”
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Planned Change: Drivers of High Implementation for a Pedagogical Self-Regulated Learning Intervention by Faith, Laurie Christine, Pyle, Angela

“…Resourcefulness and adaptability are essential to success in the modern economy; the motivation, metacognition, and cognitive skills required for…”
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Extreme-Depth Re-sequencing of Mitochondrial DNA Finds No Evidence of Paternal Transmission in Humans by Pyle, Angela, Hudson, Gavin, Wilson, Ian J, Coxhead, Jonathan, Smertenko, Tania, Herbert, Mary, Santibanez-Koref, Mauro, Chinnery, Patrick F

“…Recent reports have questioned the accepted dogma that mammalian mitochondrial DNA (mtDNA) is strictly maternally inherited. In humans, the argument hinges on…”
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Heteroplasmic mitochondrial DNA variants in cardiovascular diseases by Calabrese, Claudia, Pyle, Angela, Griffin, Helen, Coxhead, Jonathan, Hussain, Rafiqul, Braund, Peter S, Li, Linxin, Burgess, Annette, Munroe, Patricia B, Little, Louis, Warren, Helen R, Cabrera, Claudia, Hall, Alistair, Caulfield, Mark J, Rothwell, Peter M, Samani, Nilesh J, Hudson, Gavin, Chinnery, Patrick F

“…Mitochondria are implicated in the pathogenesis of cardiovascular diseases (CVDs) but the reasons for this are not well understood. Maternally-inherited…”
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Synaptotagmin 2 Mutations Cause an Autosomal-Dominant Form of Lambert-Eaton Myasthenic Syndrome and Nonprogressive Motor Neuropathy by Herrmann, David N., Horvath, Rita, Sowden, Janet E., Gonzales, Michael, Sanchez-Mejias, Avencia, Guan, Zhuo, Whittaker, Roger G., Almodovar, Jorge L., Lane, Maria, Bansagi, Boglarka, Pyle, Angela, Boczonadi, Veronika, Lochmüller, Hanns, Griffin, Helen, Chinnery, Patrick F., Lloyd, Thomas E., Littleton, J. Troy, Zuchner, Stephan

“…Synaptotagmin 2 is a synaptic vesicle protein that functions as a calcium sensor for neurotransmission but has not been previously associated with human…”
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Effects of thyroid hormone on mitochondria and metabolism of human preimplantation embryos by Noli, Laila, Khorsandi, Shirin E., Pyle, Angela, Giritharan, Gnanaratnam, Fogarty, Norah, Capalbo, Antonio, Devito, Liani, Jovanovic, Vladimir M., Khurana, Preeti, Rosa, Hannah, Kolundzic, Nikola, Cvoro, Aleksandra, Niakan, Kathy K., Malik, Afshan, Foulk, Russell, Heaton, Nigel, Ardawi, Mohammad Saleh, Chinnery, Patrick F., Ogilvie, Caroline, Khalaf, Yacoub, Ilic, Dusko

“…Thyroid hormones are regarded as the major controllers of metabolic rate and oxygen consumption in mammals. Although it has been demonstrated that thyroid…”
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Kindergarten teachers' facilitation of social and emotional learning in classroom play contexts by Larsen, Nicole, Pyle, Angela, Danniels, Erica, Marzouca, Marsha, Nazeem, Raadiyah

“…Play occupies a critical role in the kindergarten classroom, and the expansion of formal play-based learning programmes have brought connections between play…”
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Exposure of Monocytic Cells to Lipopolysaccharide Induces Coordinated Endotoxin Tolerance, Mitochondrial Biogenesis, Mitophagy, and Antioxidant Defenses by Widdrington, John D, Gomez-Duran, Aurora, Pyle, Angela, Ruchaud-Sparagano, Marie-Helene, Scott, Jonathan, Baudouin, Simon V, Rostron, Anthony J, Lovat, Penny E, Chinnery, Patrick F, Simpson, A John

“…In order to limit the adverse effects of excessive inflammation, anti-inflammatory responses are stimulated at an early stage of an infection, but during…”
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Altered 2-thiouridylation impairs mitochondrial translation in reversible infantile respiratory chain deficiency by Boczonadi, Veronika, Smith, Paul M, Pyle, Angela, Gomez-Duran, Aurora, Schara, Ulrike, Tulinius, Mar, Chinnery, Patrick F, Horvath, Rita

“…Childhood-onset mitochondrial encephalomyopathies are severe, relentlessly progressive conditions. However, reversible infantile respiratory chain deficiency…”
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