Results 31 to 40 of about 735,599 (336)

Mitochondrial Diseases

Journal of Epilepsy Research, 1970
Mitochondria contain the respiratory chain enzyme complexes that carry out oxidative phosphorylation and produce the main part of cellular energy in the form of ATP. Although several proteins related with signalling, assembling, transporting, and enzymatic function can be impaired in mitochondrial diseases, most frequently the activity of the ...
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Mitochondrial disease in flies

Biochimica et Biophysica Acta (BBA) - Bioenergetics, 2004
The Drosophila mutant technical knockout (tko), affecting the mitochondrial protein synthetic apparatus, exhibits respiratory chain deficiency and a phenotype resembling various features of mitochondrial disease in humans (paralytic seizures, deafness, developmental retardation).
Jacobs, Howard T., Fernández-Ayala, Daniel J.M., Manjiry, Shweta, Kemppainen, Esko, Toivonen, Janne M., O'Dell, Kevin M.C.   +5 more
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Mitochondrial diseases and epilepsy [PDF]

Epilepsia, 2012
SummaryThe mitochondrial respiratory chain is the final common pathway for energy production. Defects affecting this pathway can give rise to disease that presents at any age and affects any tissue. However, irrespective of genetic defect, epilepsy is common and there is a significant risk of status epilepticus.
Laurence A, Bindoff, Bernt A, Engelsen
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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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Effects of oxidative stress on hepatic encephalopathy pathogenesis in mice

Nature Communications, 2023
Oxidative stress plays a crucial role in the pathogenesis of hepatic encephalopathy (HE), but the mechanism remains unclear. GABAergic neurons in substantia nigra pars reticulata (SNr) contribute to the motor deficit of HE.
Yunhu Bai, Kenan Li, Xiaodong Li, Xiyu Chen, Jie Zheng, Feifei Wu, Jinghao Chen, Ze Li, Shuai Zhang, Kun Wu, Yong Chen, Yayun Wang, Yanling Yang   +12 more
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Medical management of hereditary optic neuropathies. [PDF]

, 2014
Hereditary optic neuropathies are diseases affecting the optic nerve. The most common are mitochondrial hereditary optic neuropathies, i.e., the maternally inherited Leber's hereditary optic neuropathy (LHON) and dominant optic atrophy (DOA).
Barboni, Piero, Carbonelli, Michele, Carelli, Valerio, La Morgia, Chiara, Sadun, Alfredo Arrigo   +4 more
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Clinically translatable mitochondrial gene therapy in muscle using tandem mtZFN architecture

EMBO Molecular Medicine
Mutations in the mitochondrial genome (mtDNA) often lead to clinical pathologies. Mitochondrially-targeted zinc finger nucleases (mtZFNs) have been successful in reducing the levels of mutation-bearing mtDNA both in vivo and in vitro, resulting in a ...
Pavel A Nash, Keira M Turner, Christopher A Powell, Lindsey Van Haute, Pedro Silva-Pinheiro, Felix Bubeck, Ellen Wiedtke, Eloïse Marques, Dylan G Ryan, Dirk Grimm, Payam A Gammage, Michal Minczuk   +11 more
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Constitutive activation of the PI3K-Akt-mTORC1 pathway sustains the m.3243 A > G mtDNA mutation

Nature Communications, 2021
Heteroplasmic mtDNA mutations cause disease in humans. Here, Chung et al find the PI3K-Akt-mTORC1 pathway constitutively activated in cells with the heteroplasmic m.3243 A > G mutation, and inhibition of the pathway cell autonomously reduces mutant mtDNA
Chih-Yao Chung, Kritarth Singh, Vassilios N. Kotiadis, Gabriel E. Valdebenito, Jee Hwan Ahn, Emilie Topley, Joycelyn Tan, William D. Andrews, Benoit Bilanges, Robert D. S. Pitceathly, Gyorgy Szabadkai, Mariia Yuneva, Michael R. Duchen   +12 more
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Late-onset thymidine kinase 2 deficiency: a review of 18 cases [PDF]

, 2019
BACKGROUND: TK2 gene encodes for mitochondrial thymidine kinase, which phosphorylates the pyrimidine nucleosides thymidine and deoxycytidine. Recessive mutations in the TK2 gene are responsible for the 'myopathic form' of the mitochondrial depletion ...
Caballero Eraso, Candelaria, Domínguez González, Cristina, Fernández Torrón, Roberto, Fuiza Luces, Carmen, García García, Jorge M., Hernández Laín, Aurelio, Hernández Voth, Ana R., Paradas, Carmen, Rivas, Eloy, Sayas Catalán, Javier   +9 more
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Neuroimaging of mitochondrial disease [PDF]

Mitochondrion, 2008
Mitochondrial disease represents a heterogeneous group of genetic disorders that require a variety of diagnostic tests for proper determination. Neuroimaging may play a significant role in diagnosis. The various modalities of nuclear magnetic resonance imaging (MRI) allow for multiple independent detection procedures that can give important anatomical ...
Russell P, Saneto, Seth D, Friedman, Dennis W W, Shaw   +2 more
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