Results 21 to 30 of about 10,033,806 (381)

Regulation of Mitochondrial Dynamics and Neurodegenerative Diseases [PDF]

, 2011
Mitochondria are important cellular organelles in most metabolic processes and have a highly dynamic nature, undergoing frequent fission and fusion. The dynamic balance between fission and fusion plays critical roles in mitochondrial functions. In recent
Fujimura, Atsushi, Han, Xiao-Jian, Matsui, Hideki, Matsushita, Masayuki, Nishiki, Tei-ichi, Ohmori, Iori, Tomizawa, Kazuhito   +6 more
core   +1 more source

Moving towards clinical trials for mitochondrial diseases

Journal of Inherited Metabolic Disease, 2020
Primary mitochondrial diseases represent some of the most common and severe inherited metabolic disorders, affecting ~1 in 4,300 live births. The clinical and molecular diversity typified by mitochondrial diseases has contributed to the lack of licensed ...
R. Pitceathly, Nandaki Keshavan, J. Rahman, S. Rahman   +3 more
semanticscholar   +1 more source

Indicators of mitochondrial disease [PDF]

Sao Paulo Medical Journal, 2013
In the article, the authors hypothesize that hepatosteatosis with unknown etiology presented by group of pediat-ric patients may be mitochondrial disease. They attribute their idea to mitochondrial structural abnormalities detected through electron microscopy examination.
Kurt, Yasemin Gulcan, Cayci, Tuncer, Akgul, Emin Ozgur, Cakir, Erdinc   +3 more
openaire   +8 more sources

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 ...
A Hamosh, A Spinazzola, AJ Butte, Andrey Rzhetsky, BB Lowell, C Eng, C Perez-Cerda, Curt Scharfe, D Skladal, DC Wallace, E Singer, Edward A. Allen, FW Sabb, G Benard, G Giaever, GM Enns, Gregory M. Enns, Guan-Cheng Li, H Prokisch, H Prokisch, Henry Horng-Shing Lu, HG Brunner, I Feldman, IH Witten, J Lim, JB Potash, JD Storey, JO Sass, Jutta K. Neuenburg, K Lage, KI Goh, L Franke, LG Biesecker, LM Steinmetz, MA Holliday, MA van Driel, MG Rosca, N Darin, N Freimer, O Elpeleg, P Braun, PF Chinnery, PM Nadkarni, R Delsite, R Ensenauer, R Luft, Ronald W. Davis, S Anderson, S Calvo, S DiMauro, SE Calvano, T Hernandez-Boussard, TD Vo, Thomas Klopstock, Tina M. Cowan, TM Dawson, V Tiranti, VK Mootha   +57 more
core   +5 more sources

The special considerations of gene therapy for mitochondrial diseases

npj Genomic Medicine, 2020
The recent success of gene therapy across multiple clinical trials has inspired a great deal of hope regarding the treatment of previously intractable genetic diseases.
J. Slone, Taosheng Huang
semanticscholar   +1 more source

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

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

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

Ophthalmoplegia in Mitochondrial Disease [PDF]

Yonsei Medical Journal, 2018
To evaluate the classification, diagnosis, and natural course of ophthalmoplegia associated with mitochondrial disease.Among 372 patients with mitochondrial disease who visited our hospital between January 2006 and January 2016, 21 patients with ophthalmoplegia were retrospectively identified.
Ji Hoon Na, Sang Jun Lee, Jinu Han, Young Mock Lee, Young Mock Lee   +4 more
openaire   +3 more sources

Mitochondrial heterogeneity in diseases

Signal Transduction and Targeted Therapy, 2023
AbstractAs key organelles involved in cellular metabolism, mitochondria frequently undergo adaptive changes in morphology, components and functions in response to various environmental stresses and cellular demands. Previous studies of mitochondria research have gradually evolved, from focusing on morphological change analysis to systematic multiomics,
Long Chen, Mengnan Zhou, Hao Li, Delin Liu, Peng Liao, Yao Zong, Changqing Zhang, Weiguo Zou, Junjie Gao   +8 more
openaire   +3 more sources