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Mitochondrial diseases [PDF]

Nature Reviews Disease Primers, 2016
Mitochondrial diseases are a group of genetic disorders that are characterized by defects in oxidative phosphorylation and caused by mutations in genes in the nuclear DNA (nDNA) and mitochondrial DNA (mtDNA) that encode structural mitochondrial proteins or proteins involved in mitochondrial function.
Gorman G. S., Chinnery P. F., DiMauro S., Hirano M., Koga Y., McFarland R., Suomalainen A., Thorburn D. R., Zeviani M., Turnbull D. M.   +9 more
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Treatment for mitochondrial diseases [PDF]

Reviews in the Neurosciences, 2020
Abstract Mitochondrial diseases are predominantly caused by mutations of mitochondrial or nuclear DNA, resulting in multisystem defects. Current treatments are largely supportive, and the disorders progress relentlessly. Nutritional supplements, pharmacological agents and physical therapies have been used in different clinical trials ...
Tongling, Liufu, Zhaoxia, Wang
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TOM40 Mediates Mitochondrial Dysfunction Induced by α-Synuclein Accumulation in Parkinson's Disease. [PDF]

, 2013
Alpha-synuclein (α-Syn) accumulation/aggregation and mitochondrial dysfunction play prominent roles in the pathology of Parkinson's disease. We have previously shown that postmortem human dopaminergic neurons from PD brains accumulate high levels of ...
Adame, Anthony, Mueller, Sarina, Bender Andreas, Sarina Mueller, Koob Andrew O., Elstner Matthias, Elstner, Matthias, Desplats, Paula, Mante, Michael, Eliezer Masliah, Desplats Paula, Mueller Sarina, Spencer, Brian, Matthias Elstner, Thomas Klopstock, Masliah, Eliezer, Koob, Andrew O., Andreas Bender, Bender, Andreas, Masliah Eliezer, Anthony Adame, Klopstock Thomas, Rockenstein, Edward, Laub Christoph, Rockenstein Edward, Pham Emily, Brian Spencer, Mante Michael, Michael Mante, Klopstock, Thomas, Christoph Laub, Spencer Brian, Adame Anthony, Andrew O Koob, Paula Desplats, Emily Pham, Laub, Christoph, Pham, Emily, Edward Rockenstein   +38 more
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Mapping gene associations in human mitochondria using clinical disease phenotypes [PDF]

, 2009
Nuclear genes encode most mitochondrial proteins, and their mutations cause diverse and debilitating clinical disorders. To date, 1,200 of these mitochondrial genes have been recorded, while no standardized catalog exists of the associated clinical ...
Curt Scharfe, Allen, Edward A., Enns, Gregory M., Guan-Cheng Li, Henry Horng-Shing Lu, Lu, Henry Horng-Shing, Neuenburg, Jutta K., Ronald W. Davis, Jutta K Neuenburg, Tina M. Cowan, Cowan, Tina M., Thomas Klopstock, Jutta K. Neuenburg, Klopstock, Thomas, Tina M Cowan, Scharfe, Curt, Li, Guan-Cheng, Edward A Allen, Ronald W Davis, Edward A. Allen, Davis, Ronald W., Gregory M Enns, Gregory M. Enns   +22 more
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Neurodegenerative stress related mitochondrial proteostasis [PDF]

, 2015
1.1 Background: Mitochondria are the main site of energy production in most cells. Furthermore, they are involved in a multitude of other essential cellular processes, such as regulating the cellular calcium pool, lipid metabolism and programmed cell ...
Fang, Lei
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Signal transducer and activator of transcription 2 deficiency is a novel disorder of mitochondrial fission [PDF]

, 2015
Defects of mitochondrial dynamics are emerging causes of neurological disease. In two children presenting with severe neurological deterioration following viral infection we identified a novel homozygous STAT2 mutation, c.1836C4A (p.Cys612Ter), using ...
Jan-Willem Taanman, Shamima Rahman, Laura D. Osellame, Gilmour, Kimberley, Glenn Anderson, Jacques, Thomas S, Sophie Hambleton, Cale, Catherine, Osellame, Laura, Plagnol, Vincent, Chalasani, A, Annapurna Chalasani, Gilmour, KC, Hambleton, Sophie, Wedatilake, Yehani, Gilmour, Kimberley C, Duchen, Michael R, Osellame, LD, Taanman, Jan-Willem, Jacques, S, Vincent Plagnol, Plagnol, V, Rahman, S, Yehani Wedatilake, Michael R. Duchen, Shahni, Rojeen, Qasim, Waseem, Thomas S. Jacques, Catherine M. Cale, Duchen, Michael, Cale, Catherine M, Waseem Qasim, Anderson, Glenn, Wadatilake, Y, Cale, CM, Rahman, Shamima, Osellame, Laura D, Taanman, JW, Chan, E, Jacques, Thomas, Anderson, G, Rojeen Shahni, Chalasani, Annapurna, Kimberly C. Gilmour, Qasim, W, Emma Chan, Hambleton, S, Duchen, MR, Shahni, R, Chan, Emma   +49 more
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Mitochondrial dysfunction in Parkinson's disease : pathogenesis and neuroprotection [PDF]

, 2011
Peer ...
Teismann, Peter, Mounsey, Ross B, Ross B. Mounsey, Peter Teismann   +3 more
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Mitochondrial Disease and Stroke [PDF]

Stroke, 2001
It is well known that some mitochondrial disorders are responsible for ischemic cerebral infarction in young patients. Our purpose was to determine, in this prospective ongoing study, whether ischemic stroke is the only manifestation of a mitochondrial disorder in young patients.Patients aged
E, Martínez-Fernández, A, Gil-Peralta, R, García-Lozano, I, Chinchón, I, Aguilera, O, Fernández-López, J, Arenas, Y, Campos, J, Bautista   +8 more
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Gene expression in a drosophila model of mitochondrial disease [PDF]

, 2010
Background A point mutation in the Drosophila gene technical knockout (tko), encoding mitoribosomal protein S12, was previously shown to cause a phenotype of respiratory chain deficiency, developmental delay, and neurological abnormalities similar to ...
Esko Kemppainen, Jacobs, H.T., Daniel J M Fernández-Ayala, Shanjun Chen, Fernandez-Ayala, Daniel JM, Kemppainen, E., Kevin M C O'Dell, O'Dell, Kevin MC, Jacobs, Howard T, Chen, S., Chen, Shanjun, Kemppainen, Esko, O'Dell, K.M.C., Kevin M. C. O'Dell, Howard T. Jacobs, Fernández-Ayala, D.J.M., Howard T Jacobs, Daniel J. M. Fernández-Ayala   +17 more
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Ubiquitin-proteasome dependent mitochondrial protein quality control [PDF]

, 2014
Dysfunctional mitochondria cause many neurodegenerative disorders and with aging in general, mechanisms of mitochondrial quality control are essential for cellular function.
Benischke, Anne-Sophie
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