Results 11 to 20 of about 9,815,793 (361)

Mitochondrial disease in children [PDF]

Journal of Internal Medicine, 2020
Mitochondrial 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 ...
S. Rahman
semanticscholar   +4 more sources

The biology of mitochondrial disease [PDF]

Archives of Disease in Childhood, 2000
Mitochondria are subcellular organelles that constitute a metabolic compartment separated from the general cytoplasm by a double layered membrane. The outer membrane serves to regulate access of proteins and metabolites to the mitochondrial compartment, and the convoluted inner mitochondrial membrane is the site of several multicomponent enzyme systems.
Alan R. Clarke
openalex   +5 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
openaire   +5 more sources

Metabolic features of treatment-refractory major depressive disorder with suicidal ideation

Translational Psychiatry, 2023
Peripheral blood metabolomics was used to gain chemical insight into the biology of treatment-refractory Major Depressive Disorder with suicidal ideation, and to identify individualized differences for personalized care.
Lisa A. Pan, Jane C. Naviaux, Lin Wang, Kefeng Li, Jonathan M. Monk, Sai Sachin Lingampelly, Anna Maria Segreti, Kaitlyn Bloom, Jerry Vockley, Mark A. Tarnopolsky, David N. Finegold, David G. Peters, Robert K. Naviaux   +12 more
doaj   +1 more source

Improved Dried Blood Spot-Based Metabolomics: A Targeted, Broad-Spectrum, Single-Injection Method

Metabolites, 2020
Dried blood spots (DBS) have proven to be a powerful sampling and storage method for newborn screening and many other applications. However, DBS methods have not yet been optimized for broad-spectrum targeted metabolomic analysis.
Kefeng Li, Jane C. Naviaux, Jonathan M. Monk, Lin Wang, Robert K. Naviaux   +4 more
doaj   +1 more source

Defective NADPH production in mitochondrial disease complex I causes inflammation and cell death

Nature Communications, 2020
Electron transport chain (ETC) defects occurring from mitochondrial disease mutations compromise ATP synthesis and render cells vulnerable to nutrient and oxidative stress conditions.
E. Balsa, E. Perry, C. Bennett, Mark P. Jedrychowski, S. Gygi, John G Doench, P. Puigserver   +6 more
semanticscholar   +1 more source

Metabolic effects of bezafibrate in mitochondrial disease

EMBO Molecular Medicine, 2020
Mitochondrial disorders affect 1/5,000 and have no cure. Inducing mitochondrial biogenesis with bezafibrate improves mitochondrial function in animal models, but there are no comparable human studies. We performed an open‐label observational experimental
H. Steele, A. Gomez-Duran, A. Pyle, S. Hopton, J. Newman, R. Stefanetti, S. Charman, J. Parikh, Langping He, C. Viscomi, D. Jakovljevic, K. Hollingsworth, A. Robinson, Robert W. Taylor, L. Bottolo, R. Horvath, P. Chinnery   +16 more
semanticscholar   +1 more source

Safety of drug use in patients with a primary mitochondrial disease: An international Delphi‐based consensus

Journal of Inherited Metabolic Disease, 2020
Clinical guidance is often sought when prescribing drugs for patients with primary mitochondrial disease. Theoretical considerations concerning drug safety in patients with mitochondrial disease may lead to unnecessary withholding of a drug in a ...
M. D. De Vries, David A. Brown, Mitchell E. Allen, L. Bindoff, G. Gorman, A. Karaa, Nandaki Keshavan, C. Lamperti, R. Mcfarland, Y. Ng, M. O’Callaghan, R. Pitceathly, S. Rahman, F. Russel, K. N. Varhaug, T. Schirris, M. Mancuso   +16 more
semanticscholar   +1 more source

Mitochondrial diseases in adults [PDF]

Journal of Internal Medicine, 2020
AbstractMitochondrial 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 terms of penetrance and clinical expressivity, natural history and diagnostic algorithm ...
La Morgia C., Maresca A., Caporali L., Valentino M. L., Carelli V.   +4 more
openaire   +3 more sources

Morphological Pathways of Mitochondrial Division

Antioxidants, 2018
Mitochondrial fission is essential for distributing cellular energy throughout cells and for isolating damaged regions of the organelle that are targeted for degradation.
Bernard Tandler, Charles L. Hoppel, Jason A. Mears   +2 more
doaj   +1 more source