EMBO Molecular Medicine, 2018 The mTOR inhibitor rapamycin ameliorates the clinical and biochemical phenotype of mouse, worm, and cellular models of mitochondrial disease, via an unclear mechanism.
Gabriele Civiletto +8 more
doaj +1 more source
Dynamin-related protein 1 is required for normal mitochondrial bioenergetic and synaptic function in CA1 hippocampal neurons. [PDF]
, 2015 Disrupting particular mitochondrial fission and fusion proteins leads to the death of specific neuronal populations; however, the normal functions of mitochondrial fission in neurons are poorly understood, especially in vivo, which limits the ...
Berthet, A +12 more
core +3 more sources
Human mitochondrial degradosome prevents harmful mitochondrial R loops and mitochondrial genome instability [PDF]
, 2018 R loops are nucleic acid structures comprising an DNA-RNA hybrid and a displaced single-stranded DNA. These structures may occur transiently during transcription, playing essential biological functions. However, persistent R loops may become pathological
Aguilera López, Andrés +2 more
core +1 more source
Fingolimod phosphate protection against mitochondrial damage in neuronal cells [PDF]
, 2019 Background: Major role of oxidative stress in the pathogenesis of neurodegenerative diseases have been suggested, being mitochondria one of the main sources of ROS. Aim: In the present work, we have studied the antioxidant effect of fingolimod phosphate
Alvarez-Gil, Antonio +8 more
core +1 more source
Mitochondrial disease in children [PDF]
Journal of Internal Medicine, 2020 AbstractMitochondrial disease presenting in childhood is characterized by clinical, biochemical and genetic complexity. Some children are affected by canonical syndromes, but the majority have nonclassical multisystemic disease presentations involving virtually any organ in the body.
openaire +2 more sources
Mitochondrial Biogenesis: Pharmacological Approaches [PDF]
, 2014 yesOrganelle biogenesis is concomitant to organelle inheritance during cell division. It is necessary that organelles double their size and divide to give rise to two identical daughter cells. Mitochondrial biogenesis occurs by growth and division of pre-
Valero-Grinan, Teresa M.
core +1 more source
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 +57 more
core +5 more sources
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 +6 more
core +1 more source
Regulation of mitochondrial biogenesis in erythropoiesis by mTORC1-mediated protein translation. [PDF]
, 2017 Advances in genomic profiling present new challenges of explaining how changes in DNA and RNA are translated into proteins linking genotype to phenotype.
Cao, Hui +15 more
core +1 more source
Modulation of PGC-1α activity as a treatment for metabolic and muscle-related diseases [PDF]
, 2014 Physical inactivity is a predisposing factor for various disease states including obesity, cardiovascular disease, as well as for certain types of cancer. Regular endurance exercise mediates several beneficial effects such as increased energy expenditure
Handschin, Christoph +1 more
core +1 more source