Results 1 to 10 of about 483,484 (261)

Clinical Approaches for Mitochondrial Diseases [PDF]

Cells, 2023
Kyoungmi Kim, Seongho Hong, Sanghun Kim   +2 more
exaly   +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

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

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

microRNA-mediated differential expression of TRMU, GTPBP3 and MTO1 in cell models of mitochondrial-DNA diseases

Scientific Reports, 2017
Mitochondrial diseases due to mutations in the mitochondrial (mt) DNA are heterogeneous in clinical manifestations but usually include OXPHOS dysfunction. Mechanisms by which OXPHOS dysfunction contributes to the disease phenotype invoke, apart from cell
Salvador Meseguer, Olga Boix, Carmen Navarro-González, Magda Villarroya, Rachid Boutoual, Sonia Emperador, Elena García-Arumí, Julio Montoya, M.-Eugenia Armengod   +8 more
doaj   +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

Rapamycin rescues mitochondrial myopathy via coordinated activation of autophagy and lysosomal biogenesis

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, Sukru Anil Dogan, Raffaele Cerutti, Gigliola Fagiolari, Maurizio Moggio, Costanza Lamperti, Cristiane Benincá, Carlo Viscomi, Massimo Zeviani   +8 more
doaj   +1 more source

Novel ELAC2 Mutations in Individuals Presenting with Variably Severe Neurological Disease in the Presence or Absence of Cardiomyopathy

Life, 2023
Transcription of mitochondrial DNA generates long polycistronic precursors whose nucleolytic cleavage yields the individual mtDNA-encoded transcripts. In most cases, this cleavage occurs at the 5′- and 3′-ends of tRNA sequences by the concerted action of
Cérane Cafournet, Sofia Zanin, Anne Guimier, Marie Hully, Zahra Assouline, Giulia Barcia, Pascale de Lonlay, Julie Steffann, Arnold Munnich, Jean-Paul Bonnefont, Agnès Rötig, Benedetta Ruzzenente, Metodi D. Metodiev   +12 more
doaj   +1 more source