Results 21 to 30 of about 10,435,022 (365)

Beyond the cochlea: exploring the multifaceted nature of hearing loss in primary mitochondrial diseases. [PDF]

Brain Commun
Koohi N, Holmes S, Male A, Bamiou DE, Dudziec MM, Ramdharry GM, Pizzamiglio C, Hanna MG, Pitceathly RDS, Kaski D.   +9 more
europepmc   +3 more sources

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

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 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

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

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

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

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

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

Mitochondrial Dysfunction in Aging and Diseases of Aging. [PDF]

, 2019
Mitochondria have been increasingly recognized as the important players in the aging process [...]
Haas, Richard H
core   +2 more sources