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Journal Article
Neurotherapeutics, ISSN 1878-7479, 2013, Volume 10, Issue 2, pp. 186 - 198
Mitochondrial DNA (mtDNA) depletion syndromes (MDS) are a genetically and clinically heterogeneous group of autosomal recessive disorders that are... 
Neurology | Neurosciences | Biomedicine | Neurobiology | Mitochondrial encephalomyopathy | Mitochondrial neurogastrointestinal (MNGIE) disease | Mitochondrial myopathy | Neurosurgery | Hepatocerebral syndrome | Alpers-Huttenlocher syndrome | POLYMERASE-GAMMA-A | CORRECTS BIOCHEMICAL DERANGEMENTS | ONSET SPINOCEREBELLAR ATAXIA | NEUROSCIENCES | CLINICAL NEUROLOGY | PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA | RESPIRATORY-CHAIN DEFICIENCY | MULTIPLE MTDNA DELETIONS | NEUROGASTROINTESTINAL ENCEPHALOMYOPATHY MNGIE | ALPERS-SYNDROME | PHARMACOLOGY & PHARMACY | DEOXYGUANOSINE KINASE-DEFICIENCY | STEM-CELL TRANSPLANTATION | Mitochondrial Diseases - genetics | Liver Transplantation | DNA, Mitochondrial - metabolism | Humans | Mitochondrial Encephalomyopathies - genetics | DNA, Mitochondrial - physiology | Mutation - genetics | Nervous System Diseases - genetics | Nucleotides - metabolism | Mitochondrial Myopathies - pathology | Mitochondrial Myopathies - therapy | Nervous System Diseases - therapy | Mitochondrial Encephalomyopathies - pathology | Mutation - physiology | Mitochondrial Myopathies - genetics | DNA, Mitochondrial - genetics | Mitochondrial Encephalomyopathies - therapy | DNA Replication - physiology | DNA Replication - genetics | Nervous System Diseases - physiopathology | Mitochondrial Diseases - therapy | Mitochondrial Diseases - physiopathology | Nutritional Support | Thymidine - metabolism | Genetic aspects | Mitochondrial DNA | Health aspects | Genes | Medical genetics | Review
Journal Article
Mitochondrial DNA, ISSN 1940-1736, 2008
Journal
Annual review of genetics, ISSN 1545-2948, 2005, Volume 39, Issue 1, pp. 359 - 407
Life is the interplay between structure and energy, yet the role of. energy deficiency in human disease has been poorly explored by modern medicine. Since the... 
Aging | Mitochondria | Reactive oxygen species | Diabetes | Neurodegenerative diseases | Human origins | TRANSCRIPTIONAL COACTIVATOR PGC-1-ALPHA | TISSUE-CULTURE CELLS | mitochondria | AMYOTROPHIC-LATERAL-SCLEROSIS | RENAL-CELL CARCINOMA | LIFE-SPAN EXTENSION | neurodegenerative diseases | CYTOCHROME-C-OXIDASE | RECEPTOR-GAMMA COACTIVATOR-1 | MANGANESE SUPEROXIDE-DISMUTASE | reactive oxygen species | GENETICS & HEREDITY | human origins | aging | HEREDITARY OPTIC NEUROPATHY | GENE-EXPRESSION PROFILE | diabetes | Neoplasms - metabolism | Metabolic Diseases - pathology | Energy Metabolism | Metabolic Diseases - metabolism | Mitochondria - genetics | Humans | Metabolic Diseases - genetics | Mitochondria - metabolism | Longevity - genetics | Mitochondria - pathology | Neoplasms - pathology | Aging - metabolism | Degeneration (Pathology) | Mitochondrial DNA | Genetic aspects | Research | Diet | Nutrition | Disease | Evolutionary biology | Genetics | Age | Risk factors | TCA: mitochondrial tricarboxylic acid cycle | SDH: succinate dehydrogenase | LHON: Leber’s hereditary optic neuropathy | ROS: reactive oxygen species, oxygen radicals | CPEO | ANT: adenine nucleotide translocator | OXPHOS: oxidative phosphorylation | Mitochondrial medicine: the new medical discipline that pertains to all clinical problems that involve the mitochondria, Evolutionary medicine: a clinical perspective that posits that many of the common clinical problems of today are rooted in adaptive genetic programs that permitted our human ancestors to survive in the environments which they confronted in the past | NARP: neurogenic muscle weaknes, ataxia, and retinitis pigmentosa | MELAS: mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes | MERRF: myoclonic epilepsy and ragged red fiber disease | ETC: mitochondrial electron transport chain, a part of the OXPHOS system | CR: mtDNA control region | COX: cytochrome c oxidase, complex IV | Oxidative phosphorylation (OXPHOS): the process by which the mitochondrion generates energy through oxidation of organic acids and fats with oxygen to create a capacitor [electron chemical gradient (ΔP = ΔΨ + ΔpH)] across the mitochondrial inner membrane. This ΔP is used as a source of potential energy to generate adenosine triphosphate (ATP), transport substrates or ions, or produce heat. OXPHOS encompasses five multipolypepetide complexes I, II, III, IV and V. Complex I is NADH dehydrogenase or NADH:ubiquinone oxidoreductase, complex II is succinate dehydrogenase (SDH) of succinate:ubiquinone oxidoreductase, complex III is the bc1 complex or ubiquinole: cytochrome c oxidoreductase,complex IV is cytochrome c oxidase (COX) or reduced cytochrome c: oxygen oxidoreductase, and complex V is the ATP synthase or proton-translocating ATP synthase. Complexes I, III, IV, and V encompass both nDNA- and mtDNA-encoded subunits | ZnSOD (Sod1): mitochondrial inner membrane space and cytosolic superoxide dismutase | mtPTP: mitochondrial permeability transition pore | FOXO: mammalian forkhead transcription factor | Mitochondrial DNA (mtDNA): the portion of the mitochondrial genome that currently resides in the matrix of the mitochondrion, as a circular DNA molecule containing the mitochondrial rRNA genes, tRNA genes, and 13 subunits of the mitochondrial oxidative phosphorylation (OXPHOS) enzyme complexes | MnSOD (Sod2): mitochondrial matrix superoxide dismutase | Reactive oxygen species (ROS): primarily superoxide anion (O2• −), hydrogen peroxide (H2O2), and hydroxyl radical (• OH), commonly referred to as oxygen radicals; generated as a toxic by-product of oxidative energy production by OXPHOS damage the mitochondrial and cellular DNA, proteins, lipids, and other molecules causing oxidative stress | PGC-1: PPARγ (peroxisome-proliferating-activated receptor γ) coactivator 1 | Mitochondrion (s), mitochondria (pl): cellular organelle of endosymbiotic origin that resides in the cytosol of most nucleated (eukaryotic) cells and which produces energy by oxidizing organic acids and fats with oxygen by the process oxidative phosphorylation (OXPHOS) and generates oxygen radicals (reactive oxygen species, ROS) as a toxic by-product | KSS: chronic progressive external ophthalmoplegia, Kearn-Sayre syndrome | Apoptosis: a process of programmed cell death resulting in the activation of caspase enzymes and intracellular nucleases that degrade the cellular proteins and nDNA. Apoptosis can be initiated via the mitochondrion through the activation of the mitochondrial permeability transition pore (mtPTP) in response to energy deficiency, increased oxidative stress, excessive Ca2+, and, or other factors | mtDNA: mitochondrial DNA | APP: amyloid precursor protein | Unc 1,2,3: uncoupling proteins 1,2,3
Journal Article
Annual review of biochemistry, ISSN 0066-4154, 6/2017, Volume 86, Issue 1, pp. 685 - 714
Mitochondria are essential organelles with numerous functions in cellular metabolism and homeostasis. Most of the >1,000 different mitochondrial proteins are... 
outer membrane | mitochondrial architecture | inner membrane | protein sorting | translocase | preprotein | Inner membrane | Preprotein | Protein sorting | Translocase | Outer membrane | Mitochondrial architecture | RESPIRATORY-CHAIN | DISULFIDE RELAY SYSTEM | PRESEQUENCE TRANSLOCASE | BIOCHEMISTRY & MOLECULAR BIOLOGY | SMALL TIM PROTEINS | CYTOCHROME-C REDUCTASE | TAIL-ANCHORED PROTEINS | OUTER-MEMBRANE PROTEINS | BETA-BARREL PROTEINS | INNER-MEMBRANE | INTERMEMBRANE SPACE PROTEINS | Protein Precursors - chemistry | Humans | Eukaryotic Cells - metabolism | Isoenzymes - chemistry | Mitochondrial Proteins - genetics | Mitochondria - ultrastructure | Mitochondrial Membrane Transport Proteins - genetics | Organelle Biogenesis | Isoenzymes - metabolism | Mitochondrial Proteins - metabolism | Eukaryotic Cells - ultrastructure | Carrier Proteins - chemistry | Protein Conformation, alpha-Helical | Gene Expression | Mitochondrial Membrane Transport Proteins - chemistry | Mitochondrial Membrane Transport Proteins - metabolism | Protein Precursors - genetics | Isoenzymes - genetics | Mitochondria - metabolism | Mitochondrial Membranes - metabolism | Protein Precursors - metabolism | Protein Transport | Carrier Proteins - genetics | Carrier Proteins - metabolism | Protein Conformation, beta-Strand | Mitochondrial Membranes - ultrastructure | Mitochondrial Proteins - chemistry | Physiological aspects | Mitochondria | Genetic aspects | Research | Carrier proteins
Journal Article