Results 1 to 10 of about 10,435,022 (365)

Mitochondrial Dynamics in Mitochondrial Diseases

Diseases, 2016
Mitochondria are very versatile organelles in continuous fusion and fission processes in response to various cellular signals. Mitochondrial dynamics, including mitochondrial fission/fusion, movements and turnover, are essential for the mitochondrial ...
Juan M. Suárez-Rivero, Marina Villanueva-Paz, Patricia de la Cruz-Ojeda, Mario de la Mata, David Cotán, Manuel Oropesa-Ávila, Isabel de Lavera, Mónica Álvarez-Córdoba, Raquel Luzón-Hidalgo, José A. Sánchez-Alcázar   +9 more
doaj   +4 more sources

MYC-an emerging player in mitochondrial diseases. [PDF]

Front Cell Dev Biol, 2023
The mitochondrion is a major hub of cellular metabolism and involved directly or indirectly in almost all biological processes of the cell. In mitochondrial diseases, compromised respiratory electron transfer and oxidative phosphorylation (OXPHOS) lead ...
Purhonen J, Klefström J, Kallijärvi J.
europepmc   +2 more sources

Clinical Approaches for Mitochondrial Diseases. [PDF]

Cells, 2023
Mitochondria are subcontractors dedicated to energy production within cells. In human mitochondria, almost all mitochondrial proteins originate from the nucleus, except for 13 subunit proteins that make up the crucial system required to perform ...
Hong S, Kim S, Kim K, Lee H.
europepmc   +2 more sources

Mitochondrial diseases [PDF]

Nature Reviews Disease Primers, 2016
Mitochondrial diseases are a group of genetic disorders that are characterized by defects in oxidative phosphorylation and caused by mutations in genes in the nuclear DNA (nDNA) and mitochondrial DNA (mtDNA) that encode structural mitochondrial proteins or proteins involved in mitochondrial function.
Gorman G. S., Chinnery P. F., DiMauro S., Hirano M., Koga Y., McFarland R., Suomalainen A., Thorburn D. R., Zeviani M., Turnbull D. M.   +9 more
semanticscholar   +9 more sources

Mitochondrial diseases: from molecular mechanisms to therapeutic advances. [PDF]

Signal Transduct Target Ther
Mitochondria are essential for cellular function and viability, serving as central hubs of metabolism and signaling. They possess various metabolic and quality control mechanisms crucial for maintaining normal cellular activities.
Wen H, Deng H, Li B, Chen J, Zhu J, Zhang X, Yoshida S, Zhou Y.   +7 more
europepmc   +2 more sources

Mitochondrial Diseases

Nature Biotechnology
In this review the author describes the current knowledge about mitochondrial diseases (mitochondrial myopathies, mitochondrial encephalomyopathies and mitochondrial cardiomyopathies) in both clinical and experimental medicine. This description concerns historical development of mitochondrial diseases, biochemical alterations and genetic disturbances ...
semanticscholar   +5 more sources

The genetic landscape of mitochondrial diseases in the next-generation sequencing era: a Portuguese cohort study. [PDF]

Front Cell Dev Biol
Nogueira C, Pereira C, Silva L, Laranjeira M, Lopes A, Neiva R, Rodrigues E, Campos T, Martins E, Bandeira A, Coelho M, Magalhães M, Damásio J, Gaspar A, Janeiro P, Gomes AL, Ferreira AC, Jacinto S, Vieira JP, Diogo L, Santos H, Mendonça C, Vilarinho L.   +22 more
europepmc   +3 more sources

OxPhos defects cause hypermetabolism and reduce lifespan in cells and in patients with mitochondrial diseases

Communications Biology, 2023
Patients with primary mitochondrial oxidative phosphorylation (OxPhos) defects present with fatigue and multi-system disorders, are often lean, and die prematurely, but the mechanistic basis for this clinical picture remains unclear.
Gabriel Sturm, Kalpita R. Karan, Anna S. Monzel, Balaji Santhanam, T. Taivassalo, C. Bris, Sarah A. Ware, Marissa Cross, A. Towheed, A. Higgins-Chen, Meagan J. McManus, Andrés Cárdenas, Jue Lin, E. Epel, S. Rahman, J. Vissing, B. Grassi, M. Levine, S. Horvath, R. Haller, G. Lenaers, D. Wallace, M. St-Onge, Saeed Tavazoie, V. Procaccio, B. Kaufman, E. Seifert, M. Hirano, M. Picard   +28 more
semanticscholar   +1 more source

mtUPR Modulation as a Therapeutic Target for Primary and Secondary Mitochondrial Diseases

International Journal of Molecular Sciences, 2023
Mitochondrial dysfunction is a key pathological event in many diseases. Its role in energy production, calcium homeostasis, apoptosis regulation, and reactive oxygen species (ROS) balance render mitochondria essential for cell survival and fitness ...
Paula Cilleros-Holgado, David Gómez-Fernández, Rocío Piñero-Pérez, Diana Reche-López, Mónica Álvarez-Córdoba, Manuel Munuera-Cabeza, Marta Talaverón-Rey, Suleva Povea-Cabello, Alejandra Suárez-Carrillo, Ana Romero-González, J. M. Suárez-Rivero, J. M. Romero-Domínguez, J. Sánchez-Alcázar   +12 more
semanticscholar   +1 more source

Mitochondrial Transplantation as a Novel Therapeutic Strategy for Mitochondrial Diseases

International Journal of Molecular Sciences, 2021
Mitochondria are the major source of intercellular bioenergy in the form of ATP. They are necessary for cell survival and play many essential roles such as maintaining calcium homeostasis, body temperature, regulation of metabolism and apoptosis ...
Anna Park, Mihee Oh, Su Jeong Lee, Kyoung-Jin Oh, Eun-Woo Lee, Sang Chul Lee, K. Bae, B. Han, W. Kim   +8 more
semanticscholar   +1 more source