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Mitochondrial diseases

Biochimica et Biophysica Acta (BBA) - Bioenergetics, 2004
By convention, the term “mitochondrial diseases” refers to disorders of the mitochondrial respiratory chain, which is the only metabolic pathway in the cell that is under the dual control of the mitochondrial genome (mtDNA) and the nuclear genome (nDNA).
DiMauro, Salvatore
core   +3 more sources

Mitochondrial Diseases

Nature Biotechnology
This thesis provides a comprehensive review of mitochondrial DNA (mtDNA), elucidating its unique structure, encoding capabilities, and the implications of mtDNA mutations for mitochondrial diseases.
Martins, Vivien Manuela
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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
openaire   +2 more sources

Physical Exercise and Mitochondrial Disease: Insights From a Mouse Model

Frontiers in Neurology, 2019
Purpose: Mitochondrial diseases (MD) are among the most prevalent neuromuscular disorders. Unfortunately, no curative treatment is yet available. This study analyzed the effects of exercise training in an animal model of respiratory chain complex I ...
Carmen Fiuza-Luces, Pedro L. Valenzuela, Sara Laine-Menéndez, Miguel Fernández-de la Torre, Verónica Bermejo-Gómez, Laura Rufián-Vázquez, Joaquín Arenas, Joaquín Arenas, Miguel A. Martín, Miguel A. Martín, Alejandro Lucia, Alejandro Lucia, María Morán, María Morán   +13 more
doaj   +1 more source

Exercise Training and Neurodegeneration in Mitochondrial Disorders: Insights From the Harlequin Mouse

Frontiers in Physiology, 2020
AimCerebellar neurodegeneration is a main phenotypic manifestation of mitochondrial disorders caused by apoptosis-inducing factor (AIF) deficiency. We assessed the effects of an exercise training intervention at the cerebellum and brain level in a mouse ...
Miguel Fernández-de la Torre, Carmen Fiuza-Luces, Pedro L. Valenzuela, Sara Laine-Menéndez, Joaquín Arenas, Joaquín Arenas, Miguel A. Martín, Miguel A. Martín, Doug M. Turnbull, Alejandro Lucia, Alejandro Lucia, María Morán, María Morán   +12 more
doaj   +1 more source

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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microRNA-mediated differential expression of TRMU, GTPBP3 and MTO1 in cell models of mitochondrial-DNA diseases

Scientific Reports, 2017
Mitochondrial diseases due to mutations in the mitochondrial (mt) DNA are heterogeneous in clinical manifestations but usually include OXPHOS dysfunction. Mechanisms by which OXPHOS dysfunction contributes to the disease phenotype invoke, apart from cell
Salvador Meseguer, Olga Boix, Carmen Navarro-González, Magda Villarroya, Rachid Boutoual, Sonia Emperador, Elena García-Arumí, Julio Montoya, M.-Eugenia Armengod   +8 more
doaj   +1 more source

Benefit of a single simulated hypobaric hypoxia in healthy mice performance and analysis of mitochondria-related gene changes

Scientific Reports, 2021
Simulated hypobaric hypoxia (SHH) training has been used to enhance running performance. However, no studies have evaluated the effects of a single SHH exposure on healthy mice performance and analyzed the changes of mitochondria-related genes in the ...
Fei-Fei Wu, Kun-Long Zhang, Zheng-Mei Wang, Yi Yang, Shao-Hua Li, Jia-Qi Wang, Jin Ma, Yan-Ling Yang, Hai-Feng Zhang, Ya-Yun Wang   +9 more
doaj   +1 more source

Rapamycin rescues mitochondrial myopathy via coordinated activation of autophagy and lysosomal biogenesis

EMBO Molecular Medicine, 2018
The mTOR inhibitor rapamycin ameliorates the clinical and biochemical phenotype of mouse, worm, and cellular models of mitochondrial disease, via an unclear mechanism.
Gabriele Civiletto, Sukru Anil Dogan, Raffaele Cerutti, Gigliola Fagiolari, Maurizio Moggio, Costanza Lamperti, Cristiane Benincá, Carlo Viscomi, Massimo Zeviani   +8 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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