Results 11 to 20 of about 742,356 (291)

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
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   +3 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

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 ...
Anderson, G, Cale, CM, Chalasani, A, Chan, E, Duchen, MR, Gilmour, KC, Hambleton, S, Jacques, S, Osellame, LD, Plagnol, V, Qasim, W, Rahman, S, Shahni, R, Taanman, JW, Wadatilake, Y   +14 more
core   +1 more source

Mitochondrial dynamics–fusion, fission, movement, and mitophagy–in neurodegenerative diseases [PDF]

, 2009
Neurons are metabolically active cells with high energy demands at locations distant from the cell body. As a result, these cells are particularly dependent on mitochondrial function, as reflected by the observation that diseases of mitochondrial ...
Alexander, Baloyannis, Banchs, Bossy-Wetzel, Brockmann, Cassidy-Stone, Chang, Chen, Cho, Clark, D. C. Chan, de Brito, Delettre, Dodson, Exner, Fransson, Frezza, Gispert, H. Chen, Hollenbeck, Kim, Kim, Li, Liot, Lustbader, Macaskill, Meeusen, Milone, Mortiboys, Okamoto, Orr, Park, Parone, Popp, Reis, Suen, Ten Dijke, Trushina, Wang, Waterham, Wood-Kaczmar, Zuchner, Z  chner   +42 more
core   +3 more sources

In vitro characterization of mitochondrial function and structure in rat and human cells with a deficiency of the NADH:ubiquinone oxidoreductase Ndufc2 subunit [PDF]

, 2017
Ndufc2, a subunit of the NADH:ubiquinone oxidoreductase, plays a key role in the assembly and activity of complex I within the mitochondrial OXPHOS chain. Its deficiency has been shown to be involved in diabetes, cancer and stroke.
1000 Genomes Project Consortium, Andrea Micaloni, Aron M Geurts, Baltan, Baltan, Baltan, Carta, Chin, Cristina Scrofani, De Smaele, Franca Bianchi, Galmozzi, Gershoni, Hackenbrock, Hackenbrock, Igci, Koopman, Leonard, Leone, Maria Rosaria Torrisi, Massimo Volpe, Maurizio Forte, Mimaki, Olsson, Putignani, Raffa, Roberta Coluccia, Rossignol, Rubattu, Rubattu, Sabatino Valente, Salvatore Raffa, Scalettar, Sebastiano Sciarretta, Shi, Smeitink, Speranza Rubattu, Turrens, Willems   +38 more
core   +1 more source

Mitochondrial genetic diseases [PDF]

Current Opinion in Pediatrics, 2010
Mitochondrial diseases are individually uncommon, but collectively pose a significant burden on human health. Primary mitochondrial disease is caused by defects in the mitochondrial DNA-encoded genes or in nuclear genes whose products are imported into the mitochondrion.
Marni J, Falk, Neal, Sondheimer
openaire   +2 more sources

Therapeutic potential of co-enzyme Q10 in retinal diseases [PDF]

, 2017
Coenzyme Q10 (CoQ10) plays a critical role in mitochondrial oxidative phosphorylation by serving as an electron carrier in the respiratory electron transport chain.
Marcheggiani, Fabio, Reilly, James, Shu, Xinhua, Tiano, Luca, Tohari, Ali Mohammad, Zhang, Xun, Zhou, Xinzhi   +6 more
core   +1 more source

Inhibition of the mitochondrial pyruvate carrier protects from excitotoxic neuronal death. [PDF]

, 2017
Glutamate is the dominant excitatory neurotransmitter in the brain, but under conditions of metabolic stress it can accumulate to excitotoxic levels.
Andreyev, Alexander Y, Bloodgood, Brenda L, Buren, Caodu, Cordes, Thekla, Divakaruni, Ajit S, Fields, Jerel A, Li, Edward, Martyniuk, Kelly, Metallo, Christian M, Murphy, Anne N, Raymond, Lynn A, Reynolds, Ian J, Wallace, Martina   +12 more
core   +1 more source