Results 41 to 50 of about 10,435,022 (365)

Expanding and validating the biomarkers for mitochondrial diseases

Journal of molecular medicine, 2020
Mitochondrial diseases are highly heterogeneous metabolic disorders caused by genetic alterations in the mitochondrial DNA (mtDNA) or in the nuclear genome.
Alessandra Maresca, Valentina Del Dotto, Martina Romagnoli, C. La Morgia, L. Di Vito, M. Capristo, M. Valentino, V. Carelli   +7 more
semanticscholar   +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, Boraldi, Federica, de Luque, Vanesa, García-Fernández, María, Lara, Estrella, Martin-Montañez, Elisa, Pavia-Molina, Jose, Urbano, María, Valverde, Nadia   +8 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

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

Cytosolic redox components regulate protein homeostasis via additional localisation in the mitochondrial intermembrane space [PDF]

, 2017
Oxidative protein folding is confined to the bacterial periplasm, endoplasmic reticulum and the mitochondrial intermembrane space. Maintaining a redox balance requires the presence of reductive pathways.
Cardenas-Rodriguez, Mauricio, Tokatlidis, Konstantinos   +1 more
core   +1 more source

Strategies for fighting mitochondrial diseases

Journal of Internal Medicine, 2020
Mitochondrial diseases are extremely heterogeneous genetic conditions characterized by faulty oxidative phosphorylation (OXPHOS). OXPHOS deficiency can be the result of mutation in mtDNA genes, encoding either proteins (13 subunits of the mitochondrial ...
C. Viscomi, M. Zeviani
semanticscholar   +1 more source

Mitochondrial diseases in adults

Journal of Internal Medicine, 2020
Mitochondrial medicine is a field that expanded exponentially in the last 30 years. Individually rare, mitochondrial diseases as a whole are probably the most frequent genetic disorder in adults. The complexity of their genotype–phenotype correlation, in
C. Morgia, Alessandra Maresca, L. Caporali, M. Valentino, Valerio Carelli   +4 more
semanticscholar   +1 more source

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

Integrative omics approaches provide biological and clinical insights: examples from mitochondrial diseases.

Journal of Clinical Investigation, 2020
High-throughput technologies for genomics, transcriptomics, proteomics, and metabolomics, and integrative analysis of these data, enable new, systems-level insights into disease pathogenesis.
Sofia Khan, Gulayse Ince-Dunn, A. Suomalainen, L. Elo   +3 more
semanticscholar   +1 more source