Results 1 to 10 of about 507,433 (303)

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 ...
Grainne S Gorman, Patrick F Chinnery, Michio Hirano   +2 more
exaly   +10 more sources

Mitochondrial Dynamics in Mitochondrial Diseases

Diseases, 2016
Mitochondria are very versatile organelles in continuous fusion and fission processes in response to various cellular signals. Mitochondrial dynamics, including mitochondrial fission/fusion, movements and turnover, are essential for the mitochondrial ...
Juan M. Suárez-Rivero, Marina Villanueva-Paz, Patricia de la Cruz-Ojeda, Mario de la Mata, David Cotán, Manuel Oropesa-Ávila, Isabel de Lavera, Mónica Álvarez-Córdoba, Raquel Luzón-Hidalgo, José A. Sánchez-Alcázar   +9 more
doaj   +4 more sources

Mechanisms and Future Research Perspectives on Mitochondrial Diseases Associated with Isoleucyl-tRNA Synthetase Gene Mutations. [PDF]

Genes (Basel)
Aminoacyl-tRNA synthetases are essential enzymes for the accurate translation of genetic information. IARS1 and IARS2 are isoleucyl-tRNA synthetases functioning in the cytoplasm and mitochondria, respectively, with genetic mutations in these enzymes ...
Watanabe M, Sasaki N.
europepmc   +2 more sources

Apoptosis-Inducing Factor Deficiency Induces Tissue-Specific Alterations in Autophagy: Insights from a Preclinical Model of Mitochondrial Disease and Exercise Training Effects

Antioxidants, 2022
We analyzed the effects of apoptosis-inducing factor (AIF) deficiency, as well as those of an exercise training intervention on autophagy across tissues (heart, skeletal muscle, cerebellum and brain), that are primarily affected by mitochondrial diseases,
Sara Laine-Menéndez, Miguel Fernández-de la Torre, Carmen Fiuza-Luces, Aitor Delmiro, Joaquín Arenas, Miguel Ángel Martín, Patricia Boya, Alejandro Lucia, María Morán   +8 more
doaj   +1 more source

Revisiting the Bacterial Phylum Composition in Metabolic Diseases Focused on Host Energy Metabolism [PDF]

Diabetes & Metabolism Journal, 2020
Over a hundred billion bacteria are found in human intestines. This has emerged as an environmental factor in metabolic diseases, such as obesity and related diseases.
Yeonmi Lee, Hui-Young Lee
doaj   +1 more source

Mitochondrial protein dysfunction in pathogenesis of neurological diseases [PDF]

, 2022
Mitochondria are essential organelles for neuronal function and cell survival. Besides the well-known bioenergetics, additional mitochondrial roles in calcium signaling, lipid biogenesis, regulation of reactive oxygen species, and apoptosis are pivotal ...
Yang, Cheng, Wu, Qiong, He, Xiumei, Zhou, Zuping, Yang, Ziyun, Pu, Shiming, Cen, Xiaobo, Wang, Liang, Zhao, Hongxia   +8 more
core   +1 more source

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
core   +1 more source

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
core   +1 more source

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
core   +1 more source

KLF-1 orchestrates a xenobiotic detoxification program essential for longevity of mitochondrial mutants

Nature Communications, 2019
Cytochrome P450 oxidases (CYPs) are enzymes that participate in the xenobiotic detoxification and their expression is enhanced in long-lived model organisms.
Marija Herholz, Estela Cepeda, Linda Baumann, Alexandra Kukat, Johannes Hermeling, Sarah Maciej, Karolina Szczepanowska, Victor Pavlenko, Peter Frommolt, Aleksandra Trifunovic   +9 more
doaj   +1 more source