Mitochondrial DNA disease-molecular insights and potential routes to a cure
Keywords: بیماری میتوکندریایی; Mitochondrial disease; Treatments; Zinc-finger nucleases; TALENs;
مقالات ISI بیماری میتوکندریایی (ترجمه نشده)
مقالات زیر هنوز به فارسی ترجمه نشده اند.
در صورتی که به ترجمه آماده هر یک از مقالات زیر نیاز داشته باشید، می توانید سفارش دهید تا مترجمان با تجربه این مجموعه در اسرع وقت آن را برای شما ترجمه نمایند.
در صورتی که به ترجمه آماده هر یک از مقالات زیر نیاز داشته باشید، می توانید سفارش دهید تا مترجمان با تجربه این مجموعه در اسرع وقت آن را برای شما ترجمه نمایند.
Mutation of the human mitochondrial phenylalanine-tRNA synthetase causes infantile-onset epilepsy and cytochrome c oxidase deficiency
Keywords: بیماری میتوکندریایی; OXPHOS; oxidative phosphorylation; aaRS; aminoacyl-tRNA synthetase; mt-; mitochondrial; mtDNA; mitochondrial DNA; MRI; magnetic resonance imaging; LBSL; leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation; PCH6; pontocere
High-throughput screening of FDA-approved drugs using oxygen biosensor plates reveals secondary mitofunctional effects
Keywords: بیماری میتوکندریایی; FXTAS; Fragile X syndrome; LHON; Leber's hereditary neuropathy; AMPK; AMP-activated protein kinase; OCR; oxygen consumption rate; ECAR; extracellular acidification rate; Mitochondrial disease; Oxygen; Bioenergetics; High-throughput screening;
Role of AMPK-mediated adaptive responses in human cells with mitochondrial dysfunction to oxidative stress
Keywords: بیماری میتوکندریایی; AMPK; AMP-activated protein kinase; CaMKs; calmodulin-dependent protein kinases; CPEO; chronic progressive external ophthalmoplegia; CREB; cAMP-responsive element-binding protein; FOXO; forkhead box O transcription factor; G6PD; glucose 6-phosphate dehydr
Dictyostelium, a microbial model for brain disease
Keywords: بیماری میتوکندریایی; Mitochondrial disease; Dictyostelium; neurodegenerative disease; AMPK; OXPHOS; Lysosomal disease;
Zebrafish as a model system for mitochondrial biology and diseases
Keywords: بیماری میتوکندریایی; 2,5-DHBA; 2,5-dihydroxybenzoic acid; ALS; amyotrophic lateral sclerosis; ATP; adenosine triphosphate; Bcl-2; B-cell lymphoma 2; CMT2; Charcot-Marie-Tooth 2; CNS; central nervous system; coA; coenzyme A; COX; cytochrome c oxidase; DA; dopaminergic; dpf; da
Mitochondria: Mitochondrial RNA metabolism and human disease
Keywords: بیماری میتوکندریایی; Mitochondrial disease; RNA stability; RNA processing; RNA turnover; tRNA modification;
Levels of 5-methyltetrahydrofolate and ascorbic acid in cerebrospinal fluid are correlated: Implications for the accelerated degradation of folate by reactive oxygen species
Keywords: بیماری میتوکندریایی; Oxidative stress; Mitochondrial disease; Folate; 5-Methyltetrahydrofolate;
A novel familial case of diffuse leukodystrophy related to NDUFV1 compound heterozygous mutations
Keywords: بیماری میتوکندریایی; MD; mitochondrial respiratory chain disorders; CI; complex I; NMD; nonsense-mediated decay; Mitochondrial disease; Diffuse leukodystrophy; NDUFV1 mutations; Genetics;
Overexpression of TNF-α in mitochondrial diseases caused by mutations in mtDNA: evidence for signaling through its receptors on mitochondria
Keywords: بیماری میتوکندریایی; COX; Cytochrome c oxidase; CPEO; Chronic progressive external ophthalmoplegia; MD; Mitochondrial disease; MELAS; Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes; MERRF; Myoclonic epilepsy with ragged red fibers; OXPHOS; Oxida
Regulation of mitochondrial FoF1ATPase activity by Sirt3-catalyzed deacetylation and its deficiency in human cells harboring 4977Â bp deletion of mitochondrial DNA
Keywords: بیماری میتوکندریایی; Energy metabolism; FoF1ATPase; Lysine acetylation; Mitochondrial disease; Oxidative stress; Sirt3;
The optic nerve: A “mito-window” on mitochondrial neurodegeneration
Keywords: بیماری میتوکندریایی; Mitochondrial disease; Optic atrophy; Mitochondrial functions; LHON; DOA; Retinal ganglion cells;
Juvenile parkinsonism, hypogonadism and Leigh-like MRI changes in a patient with m.4296G>A mutation in mitochondrial DNA
Keywords: بیماری میتوکندریایی; Hypogonadism; Leigh syndrome; Mitochondrial disease; Parkinsonism; tRNA isoleucine
A novel mutation in COQ2 leading to fatal infantile multisystem disease
Keywords: بیماری میتوکندریایی; Mitochondrial disease; Oxidative phosphorylation; COQ2; CoQ10 deficiency; Epilepsy; Renal disease
Unusual exocrine complication of pancreatitis in mitochondrial disease
Keywords: بیماری میتوکندریایی; Mitochondrial disease; Pancreatitis; CPEO; MELAS
Complex I deficiencies in neurological disorders
Keywords: بیماری میتوکندریایی; respiratory complex I; cAMP/PKA signaling; mitochondrial ROS balance; mitochondrial biogenesis; mitochondrial disease; neurological disorders; Parkinson disease; Down syndrome
Mitochondrial disorders: aetiologies, models systems, and candidate therapies
Keywords: بیماری میتوکندریایی; mitochondrial disease; gene therapy; Leber hereditary optic neuropathy
Adult-onset of Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-Like Episodes (MELAS) Syndrome Presenting as Acute Meningoencephalitis: A Case Report
Keywords: بیماری میتوکندریایی; MELAS; epilepsy; mitochondrial disease; meningoencephalitis; valproic acid
Pearson syndrome: Unique endocrine manifestations including Neonatal Diabetes and adrenal insufficiency
Keywords: بیماری میتوکندریایی; Pearson syndrome; Mitochondrial disease; Neonatal diabetes; Adrenal insufficiency; Mitochondrial DNA deletion; Anemia
Dravet syndrome: Patients with co-morbid SCN1A gene mutations and mitochondrial electron transport chain defects
Keywords: بیماری میتوکندریایی; Dravet syndrome; SCN1A; Mitochondrial disease; Electron transport chain; Autism;
Mitochondria in Biology and Medicine
Keywords: بیماری میتوکندریایی; Conference; Mitochondria; Mitochondrial disease; Cancer; Mitochondrial haplogroups;
Cardiomyopathy is common in patients with the mitochondrial DNA m.3243A>G mutation and correlates with mutation load
Keywords: بیماری میتوکندریایی; Mitochondrial disease; Cardiomyopathy; Tagging; MRI;
EPI-743 reverses the progression of the pediatric mitochondrial disease-Genetically defined Leigh Syndrome
Keywords: بیماری میتوکندریایی; Leigh syndrome; Mitochondrial disease; EPI-743;
Prevention of mitochondrial disease inheritance by assisted reproductive technologies: Prospects and challenges
Keywords: بیماری میتوکندریایی; Assisted reproductive technology; Mitochondrial disease; Mitochondrial DNA heteroplasmy; Germinal vesicle transfer
Non-invasive evaluation of buccal respiratory chain enzyme dysfunction in mitochondrial disease: Comparison with studies in muscle biopsy
Keywords: بیماری میتوکندریایی; Respiratory chain; Mitochondrial disease; Buccal swab;
Prognosis of symptomatic patients with the A3243G mutation of mitochondrial DNA
Keywords: بیماری میتوکندریایی; A3243G mutation; MELAS; mitochondrial disease; mitochondrial DNA; prognosis; seizures; Taiwanese
Clinical and cellular consequences of the mutation m.12300G>A in the mitochondrial tRNALeu(CUN) gene
Keywords: بیماری میتوکندریایی; Mitochondrial disease; Mitochondrial DNA tRNALeu(CUN) gene; Cybrid; ATP; Mitochondrial membrane potential; Reactive oxygen species;
Mitochondrial tRNA valine as a recurrent target for mutations involved in mitochondrial cardiomyopathies
Keywords: بیماری میتوکندریایی; MD; mitochondrial disease; mtDNA; mitochondrial DNA; tRNA; transfer ribonucleic acid; MCM; mitochondrial cardiomyopathy; MELAS; mitochondrial encephalopathy, lactic acidosis and stroke-like episodes; MiMyCa; maternally inherited myopathy and cardiomyopath
Effect of mtDNA point mutations on cellular bioenergetics
Keywords: بیماری میتوکندریایی; mtDNA point mutation; Mitochondrial disease; Mitochondrial membrane potential; Mitochondrial calcium; ROS; Mitochondrial dynamics;
Animal models of human mitochondrial DNA mutations
Keywords: بیماری میتوکندریایی; Animal modeling; Mitochondria; Mitochondrial DNA (mtDNA); Mitochondrial disease; Transmitochondrial animal; Xenomitochondrial mouse
In vitro supplementation with deoxynucleoside monophosphates rescues mitochondrial DNA depletion
Keywords: بیماری میتوکندریایی; COX; cytochrome c oxidase; COX II; cytochrome c oxidase subunit II; DGUOK; deoxyguanosine kinase; dNMP; deoxy-nucleoside monophosphate; dNDP; deoxy-nucleoside diphosphate; dNTP; deoxy-nucleoside triphosphate; HIV; human immunodeficiency virus; HRP; horser
Transcriptome analysis in mitochondrial disorders
Keywords: بیماری میتوکندریایی; Mitochondrial disease; Gene expression; Microarray; OXPHOS; Mitochondrial biogenesis; PGC-1α; Cell cycle; Epigenetics;
Brain uptake of Tc99m-HMPAO correlates with clinical response to the novel redox modulating agent EPI-743 in patients with mitochondrial disease
Keywords: بیماری میتوکندریایی; HMPAO; Mitochondrial disease; EPI-743; Redox; SPECT; Leigh syndrome
Single deletions in mitochondrial DNA - Molecular mechanisms and disease phenotypes in clinical practice
Keywords: بیماری میتوکندریایی; Single deletion; Mitochondrial DNA; Mitochondrial disease;
Defective mitochondrial fusion, altered respiratory function, and distorted cristae structure in skin fibroblasts with heterozygous OPA1 mutations
Keywords: بیماری میتوکندریایی; ADOA; autosomal dominant optic atrophy; AR; aspect ratio; cccp; carbonyl cyanide m-chlorophenyl hydrazone; ÎÏ; mitochondrial inner membrane potential; mtDNA; mitochondrial DNA; OXPHOS; oxidative phosphorylation; SOD1; Cu,Zn-superoxide dismutase; SOD2; M
Exercise Testing in Metabolic Myopathies
Keywords: بیماری میتوکندریایی; Mitochondrial disease; Fatty acid oxidation defects; Glycogen storage disease; Rhabdomyolysis;
AMPK-mediated increase of glycolysis as an adaptive response to oxidative stress in human cells: Implication of the cell survival in mitochondrial diseases
Keywords: بیماری میتوکندریایی; Mitochondrial disease; MERRF syndrome; Oxidative stress; AMPK; Glycolysis; NADPH
Unusual adult-onset Leigh syndrome presentation due to the mitochondrial m.9176T>C mutation
Keywords: بیماری میتوکندریایی; Leigh's disease; Leigh disease maternally inherited; Mitochondrial disease; MT-ATP6 protein;
Mitochondrial disease – a review
Keywords: بیماری میتوکندریایی; Alpers; Barth syndrome; heteroplasmy; Kearns–Sayre syndrome; Leigh syndrome; MELAS; mitochondrial disease; MERRF; NARP; Pearson syndrome; PEO
Therapy for mitochondrial disorders: Little proof, high research activity, some promise
Keywords: بیماری میتوکندریایی; Mitochondrial disease; Respiratory chain deficiency; Therapy
Biochemical analysis of the G517V POLG variant reveals wild-type like activity
Keywords: بیماری میتوکندریایی; POLG; DNA polymerase; Mitochondrial disease;
A critical analysis of the combined usage of protein localization prediction methods: Increasing the number of independent data sets can reduce the accuracy of predicted mitochondrial localization
Keywords: بیماری میتوکندریایی; Mitochondria; Proteome; Bioinformatics; Oxidative phosphorylation; Mitochondrial disease;
Cellular rescue-assay aids verification of causative DNA-variants in mitochondrial complex I deficiency
Keywords: بیماری میتوکندریایی; Mitochondrial disease; Complex I deficiency; NDUFS1; Lentiviral complementation; Leigh syndrome
A novel mitochondrial DNA deletion producing progressive external ophthalmoplegia associated with multiple sclerosis
Keywords: بیماری میتوکندریایی; Mitochondrial disease; Multiple sclerosis; Progressive external ophthalmoplegia
Early detection of myocardial dysfunction in children with mitochondrial disease: An ultrasound and two-dimensional strain echocardiography study
Keywords: بیماری میتوکندریایی; Cardiomyopathy; Child; Echocardiography; Mitochondrial disease; Two-dimensional strain echocardiography;
NARP mutation and mtDNA depletion trigger mitochondrial biogenesis which can be modulated by selenite supplementation
Keywords: بیماری میتوکندریایی; Mitochondrial biogenesis; Mitochondrial disease; Mitochondrial stress; NARP; Selenium
Therapeutic treatments of mtDNA diseases at the earliest stages of human development
Keywords: بیماری میتوکندریایی; Mitochondria; Mitochondrial disease; mtDNA; Pre-implantation genetic diagnosis; Cytoplasmic transfer; Nuclear transfer
Impairment of mitochondrial tRNAIle processing by a novel mutation associated with chronic progressive external ophthalmoplegia
Keywords: بیماری میتوکندریایی; Mitochondrial disease; CPEO; Mitochondrial tRNA; 3â² end processing; MT-TI;
Mitochondrial DNA abnormalities in ophthalmological disease
Keywords: بیماری میتوکندریایی; mtDNA; Mitochondrial disease; Progressive external ophthalmoplegia; Optic atrophy; LHON; Retinopathy; Extraocular muscle
Heteroplasmic mitochondrial disease in Dictyostelium discoideum
Keywords: بیماری میتوکندریایی; Dictyostelium; Phototaxis; Cell growth; Legionella; Mitochondrial disease