Keywords: بیماری های میتوکندری; Exertional rhabdomyolysis; Metabolic disorders; Mitochondrial diseases; Multiple genetic variants; Synergistic heterozygosity; Oligogenic inheritance;
مقالات ISI بیماری های میتوکندری (ترجمه نشده)
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Keywords: بیماری های میتوکندری; MDs; mitochondrial diseases; PEO; progressive external ophthalmoplegia; MELAS; mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes; MERRF; myoclonic epilepsy with ragged-red fibres; MIDD; maternally inherited diabetes and deafness;
Keywords: بیماری های میتوکندری; Mitochondrial DNA replication; Nuclear-mitochondrial coordination; Mitochondrial diseases; DNA polymerase γ; Stress;
Keywords: بیماری های میتوکندری; Mitochondrial diseases; Leigh syndrome; Stem cells from human exfoliated deciduous teeth; Bone health; Osteogenic differentiation; Osteoblasts;
Keywords: بیماری های میتوکندری; aaRS; aminoacyl-tRNA synthetase(s); bp; base-pair; mt; mitochondrial; rho+; Â mt DNA wild-type; WT; wild-type; Aa; amino acid; tRNALeu; tRNALeu(UUR); Mitochondrial diseases; tRNA mutations; Mitochondrial translation; Suppressor genes; Yeast;
Keywords: بیماری های میتوکندری; Mitochondrial diseases; Arginine; Citrulline; RP103; EPI-743; Elamipretide; Bezafibrate; Epicatechin; RTA 408;
Keywords: بیماری های میتوکندری; Mitochondrial diseases; Cell uptake; Intravenous injection; In vivo distribution; Mitochondrial therapy;
Keywords: بیماری های میتوکندری; Mitochondrial encephalopathy; Ndufs4 knockout mice; Rapamycin; Mitochondria; Mitochondrial diseases; ATP5D; ATP synthase H+ transporting mitochondrial F1 complex delta subunit; Cox1; cytochrome c oxidase I; Cox2; cytochrome c oxidase subunit 2; Cox15; Cyt
Keywords: بیماری های میتوکندری; Movement disorders; Mitochondrial diseases; Ataxia; Dystonia; Parkinsonism; Myoclonus;
Keywords: بیماری های میتوکندری; Mitochondrial diseases; Genetic diseases; Psychological stress; Coping behavior; Patient-centered care; Parents;
Keywords: بیماری های میتوکندری; Mitochondrial diseases; Mitochondrial dysfunction; Mitochondrial DNA; Electron transport chain; Diagnosis of mitochondrial diseases; Treatment of mitochondrial diseases;
Keywords: بیماری های میتوکندری; Inborn errors metabolism; Adolescent health services; Neonatal screening; Fatty acid oxidation complex; Urea cycle disorders; Mitochondrial diseases
Keywords: بیماری های میتوکندری; Mitochondria; Oxidative phosphorylation; Mitochondrial capacity; Mitochondrial diseases; Retrograde signaling;
Keywords: بیماری های میتوکندری; Mitochondrial diseases; Encephalomyopathy; Lactic acidosis; Nitric oxide deficiency; Arginine; Citrulline; Angiopathy; Endothelial dysfunction;
Keywords: بیماری های میتوکندری; diagnosis; infants and children; mitochondrial diseases; Taiwan
Keywords: بیماری های میتوکندری; Mitochondrial DNA; Mitochondrial diseases; Rare codon; Protein folding; Translation; Association studies;
Keywords: بیماری های میتوکندری; Mitochondrial transfer; Mitochondrial diseases; Therapeutics; Transplantation; Pep-1;
Keywords: بیماری های میتوکندری; Mitochondrial diseases; Mitochondrial DNA; Respiratory chain; Therapy
Keywords: بیماری های میتوکندری; Magnetic resonance spectroscopy; Mitochondrial diseases; Lactate
Keywords: بیماری های میتوکندری; Mitochondria; Mitochondrial diseases; Neurodegenerative disorders; Pharmacological neuroprotection; Mitochondrie; Maladies mitochondriales; Maladies neurodégénératives; Neuroprotection pharmacologique; AD; Alzheimer's disease; AICAR; 5-aminoimidazole-4
Keywords: بیماری های میتوکندری; Mitochondrial diseases; MtDNA; Nuclear genome; Progressive external ophthalmoplegia; Exercise intolerance; Cerebellar ataxia; Refractory epilepsy; Movement disorders; Maladies mitochondriales; ADNmt; Génome nucléaire; Ophtalmoplégie progressive externe
Keywords: بیماری های میتوکندری; Epistatic interactions; Mitochondrial diseases; Networks; Neurodegenerative diseases; Protein-protein interactions; RNA interference;
Keywords: بیماری های میتوکندری; 2-DG; 2-deoxyglucose; ATP; adenosine triphosphate; FCCP; carbonyl cyanide-4-(trifluoromethoxy) phenylhydrazone; MEF; mouse embryonic fibroblasts; HSF; human skin fibroblasts; MD; mitochondrial diseases; NMR; Nuclear Magnetic Resonance; PEP; phosphoenolpyr
Keywords: بیماری های میتوکندری; Mitochondrial diseases; CPEO; Huntington disease; mtDNA; tRNA
Keywords: بیماری های میتوکندری; Mitochondrial diseases; Genetic diseases; Parent experience; Guilt; Worry; Uncertainty; Sorrow; Anger
Keywords: بیماری های میتوکندری; mt; mitochondrial; bp; base-pair; MELAS; mitochondrial encephalomyophathy, lactic acidosis, and stroke-like episodes; aa; amino acid(s); aa-RS; aminoacyl-tRNA synthetase; rho+; mt DNA wild-type; rho; mt DNA absent; NAM2; gene coding for the yeast mitochon
A disease-associated Aifm1 variant induces severe myopathy in knockin mice
Keywords: بیماری های میتوکندری; Akt/mTOR signaling; Apoptosis-inducing factor (AIF); 1C metabolism; Mitochondria; Mitochondrial diseases; Oxidative phosphorylation;
Different mitochondrial genetic defects exhibit the same protein signature of metabolism in skeletal muscle of PEO and MELAS patients: A role for oxidative stress
Keywords: بیماری های میتوکندری; α-F1 and β-F1; Alpha and beta subunits of the ATP synthase; ACO1; Aconitase 1; CORE II; Ubiquinol-cytochrome c reductase complex; CPT1; Carnitine palmitoyltransferase I; CS; Citrate synthase; ENO 1; Enolase 1; G6PDH; Glucose-6-phosphate dehydrogenase; G
Identification and characterization of the novel m.8305C>T MTTK and m.4440G>A MTTM gene mutations causing mitochondrial myopathies
Keywords: بیماری های میتوکندری; Myopathy; Mitochondrial diseases; PEO; mtDNA;
Metabolic studies of a patient harbouring a novel S487L mutation in the catalytic subunit of AMPK
Keywords: بیماری های میتوکندری; AMPK; PRKAA1; Neurological impairment; Mitochondria; Oxidative phosphorylation; Mitochondrial diseases;
Apoptosis-Inducing Factor (AIF) in Physiology and Disease: The Tale of a Repented Natural Born Killer
Keywords: بیماری های میتوکندری; Apoptosis-inducing factor (AIF); Cell death; Mitochondria; Mitochondrial diseases; Oxidative phosphorylation (OXPHOS);
Dominance of yeast aac2R96H and aac2R252G mutations, equivalent to pathological mutations in ant1, is due to gain of function
Keywords: بیماری های میتوکندری; Yeast; ANT1; SLC25A4; AAC2; Mitochondrial diseases; Gain of function;
Diagnóstico de las enfermedades mitocondriales: utilidad de un abordaje clÃnico-molecular sistematizado incorporando secuenciación de alto rendimiento
Keywords: بیماری های میتوکندری; Enfermedades mitocondriales; Genética; Fenotipo; Algoritmo; Diagnóstico; Mitochondrial diseases; Genetics; Phenotype; Algorithm; Diagnosis;
Mitochondrial DNA maintenance defects
Keywords: بیماری های میتوکندری; mitochondrial diseases; mitochondrial DNA (mtDNA); mtDNA depletion syndromes; multiple mtDNA deletions; mitochondrial fusion; mtDNA replication;
In silico analysis for predicting pathogenicity of five unclassified mitochondrial DNA mutations associated with mitochondrial cytopathies' phenotypes
Keywords: بیماری های میتوکندری; mtDNA mutations; Pathogenicity; In silico analysis; Mitochondrial diseases;
Novel regulators and molecular mechanisms of p53R2 and its disease relevance
Keywords: بیماری های میتوکندری; p53R2; Mitochondrial diseases; Cancer; Inflammation; Ribonucleotide reductase;
Impaired nitric oxide production in children with MELAS syndrome and the effect of arginine and citrulline supplementation
Keywords: بیماری های میتوکندری; Stable isotope; Mitochondrial diseases; Stroke-like; Lactic acidosis;
High throughput gene complementation screening permits identification of a mammalian mitochondrial protein synthesis (Ïâ) mutant
Keywords: بیماری های میتوکندری; Mitochondrial diseases; Complementation cloning; OXPHOS; Mitochondrial ribosomes; bS6m;
Resveratrol attenuates oxidative stress in mitochondrial Complex I deficiency: Involvement of SIRT3
Keywords: بیماری های میتوکندری; Complex I deficiency; Oxidative stress; Mitochondrial diseases; Pharmacological therapy; Resveratrol; SOD2; SIRT3;
Method of carrier-free delivery of therapeutic RNA importable into human mitochondria: Lipophilic conjugates with cleavable bonds
Keywords: بیماری های میتوکندری; Cell delivery; RNA therapeutics; RNA conjugates; Mitochondrial drug delivery; Mitochondrial diseases; Antireplicative RNA;
Mitochondrial translation factors reflect coordination between organelles and cytoplasmic translation via mTOR signaling: Implication in disease
Keywords: بیماری های میتوکندری; Mitochondrial translation; Mitochondrial elongation factor 4 (mtEF4); mTOR; Mitochondrial diseases;
C. elegans as a model organism for human mitochondrial associated disorders
Keywords: بیماری های میتوکندری; Mitochondria; Mitochondrial diseases; Neurodegeneration; C. elegans; In vivo drug screening; Therapy;
Insulin-like growth factor 1 (IGF-1) therapy: Mitochondrial dysfunction and diseases
Keywords: بیماری های میتوکندری; ÎΨm; membrane potential; AD; Alzheimer's disease; AMPK; adenosine-monophosphate-activated kinase; ATG proteins; autophagy-related proteins; ATP; adenosine triphosphate; CaMKs; calcium-calmodulin-activated kinases; CDKs; cyclin-dependent kinases; CNS;
Transmitochondrial mito-miceÎ and mtDNA mutator mice, but not aged mice, share the same spectrum of musculoskeletal disorders
Keywords: بیماری های میتوکندری; mtDNA mutator mice; Mito-miceÎ; Mitochondrial diseases; Aging; Osteoporosis; Sarcopenia;
Mutation loads in different tissues from six pathogenic mtDNA point mutations
Keywords: بیماری های میتوکندری; DNA; mtDNA, mitochondrial; MELAS; mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes; MD; mitochondrial disease; Mitochondrial DNA point mutations; Mutation load; Urine; MELAS; Mitochondrial diseases;
GDF15 is a novel biomarker to evaluate efficacy of pyruvate therapy for mitochondrial diseases
Keywords: بیماری های میتوکندری; GDF15; Pyruvate; Mitochondrial diseases; Cybrid; Microarray; Biomarker;
Mitochondrial Diseases Part III: Therapeutic interventions in mouse models of OXPHOS deficiencies
Keywords: بیماری های میتوکندری; Mitochondria; Oxidative phosphorylation; OXPHOS; Mouse models; Mitochondrial diseases;
Effects of OXPHOS complex deficiencies and ESA dysfunction in working intact skeletal muscle: implications for mitochondrial myopathies
Keywords: بیماری های میتوکندری; Mitochondrial diseases; mtDNA mutations; Oxidative phosphorylation; Inborn enzyme deficiencies; Computer model;
Mitochondrial Diseases Part I: Mouse models of OXPHOS deficiencies caused by defects in respiratory complex subunits or assembly factors
Keywords: بیماری های میتوکندری; Mitochondria; Oxidative phosphorylation; OXPHOS; Mouse models; Mitochondrial diseases
Skeletal muscle increases FGF21 expression in mitochondrial disorders to compensate for energy metabolic insufficiency by activating the mTOR-YY1-PGC1α pathway
Keywords: بیماری های میتوکندری; CS; citrate synthase; ECAR; extracellular acidification rate; FGF21; fibroblast growth factor; MELAS; mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes; mtDNA; mitochondrial DNA; mTOR; mammalian target of rapamycin; mTORC; mTOR co