Keywords: بیماری میتوکندریایی; Mitochondria; Chloroplast; Processing peptidase; Presequence protease; Mitochondrial disease; Targeting peptide;
مقالات ISI بیماری میتوکندریایی (ترجمه نشده)
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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.
Keywords: بیماری میتوکندریایی; Mitochondrial disease; Mitochondrial medicine; Clinical guidelines;
Keywords: بیماری میتوکندریایی; FDG-PET; Leigh syndrome; neuroimaging; positron emission tomography; mitochondrial disease; PET
Keywords: بیماری میتوکندریایی; Hereditary spastic paraplegia; SPG28; DDHD1; Mitochondrial disease
Keywords: بیماری میتوکندریایی; Macular dystrophy; Diabetes; Deafness; Mitochondrial DNA; Mitochondrial disease; Ballinger-Wallace syndromeDistrofia macular; Diabetes; Sordera; ADN mitocondrial; Enfermedad mitocondrial; Síndrome de Ballinger-Wallace
Keywords: بیماری میتوکندریایی; Lactate; Brain energy metabolism; Glycogen storage disease; Brain injury; Mitochondrial disease; GLUT1 deficiency syndrome
Keywords: بیماری میتوکندریایی; Browning; FGF21; GDF15; Myokine; Mitochondrial disease; Muscle mitohormesis
Keywords: بیماری میتوکندریایی; Exercise; FGF21; Mitochondrial disease; Myokine; Integrated stress response; Secretory proteins; Skeletal muscle; Endoplasmic reticulum
Novel IARS2 mutations in Japanese siblings with CAGSSS, Leigh, and West syndrome
Keywords: بیماری میتوکندریایی; CAGSSS; Whole-exome sequencing; Leigh syndrome; West syndrome; Mitochondrial disease;
Myoclonus epilepsy, retinitis pigmentosa, leukoencephalopathy and cerebral calcifications associated with a novel m.5513G>A mutation in the MT-TW gene
Keywords: بیماری میتوکندریایی; Mitochondrial disease; mtDNA; tRNATrp; MT-TW gene; New mutation;
Further delineation of the phenotypic spectrum of ISCA2 defect: A report of ten new cases
Keywords: بیماری میتوکندریایی; ISCA2; Neurodevelopmental regression; Hypotonia; White matter; Mitochondrial disease; ISC; Iron-Sulfur Cluster; LAS; Lipoate Synthase; LBSL; Leukoencephalopathy with Brain Stem and Spinal Cord Involvement and Lactate Elevation; MLD; Metachromatic Leukodys
Pathogenic mutations of the human mitochondrial citrate carrier SLC25A1 lead to impaired citrate export required for lipid, dolichol, ubiquinone and sterol synthesis
Keywords: بیماری میتوکندریایی; Mitochondrial disease; Mitochondrial carriers; Structure-function relationships; Citrate metabolism; Mitochondrial tricarboxylate carrier; Transport;
The pathomechanism of cytochrome c oxidase deficiency includes nuclear DNA damage
Keywords: بیماری میتوکندریایی; Cytochrome c oxidase; Mitochondria; Respiratory chain; Mitochondrial disease; DNA double stranded breaks; OXPHOS;
What Can Mitochondrial DNA Analysis Tell Us About Mood Disorders?
Keywords: بیماری میتوکندریایی; Chronic progressive external ophthalmoplegia; Mitochondrial disease; Mitochondrial DNA; Mitochondrial dysfunction; Paraventricular thalamus; POLG;
Molecular signature pathway of gene protein interaction in human mitochondrial DNA (mtDNA) metabolism linked disease
Keywords: بیماری میتوکندریایی; mtDNA metabolism; de novo and salvage pathway; Mitochondrial disease; dNTP pool;
High-throughput BioSorter quantification of relative mitochondrial content and membrane potential in living Caenorhabditis elegans
Keywords: بیماری میتوکندریایی; Mitochondrial disease; Flow cytometry; C. elegans; Screening;
The genotypic and phenotypic spectrum of MTO1 deficiency
Keywords: بیماری میتوکندریایی; GDD; global developmental delay; HCM; hypertrophic cardiomyopathy; ID; intellectual disability; MRI; magnetic resonance imaging; MTO1; Mitochondrial tRNA Translation Optimization 1; OXPHOS; oxidative phosphorylation; Q-TOF; quadrupole time-of-flight; WES;
SURF1 knockout cloned pigs: Early onset of a severe lethal phenotype
Keywords: بیماری میتوکندریایی; Leigh syndrome; SURF1 KO; Genome editing; Pig; Mitochondrial disease;
Mitonuclear epistasis and mitochondrial disease
Keywords: بیماری میتوکندریایی; Mitochondrial disease; Epistasis; Modifier allele; Suppressor; Disease penetrance;
Activation of a cryptic splice site in the mitochondrial elongation factor GFM1 causes combined OXPHOS deficiency
Keywords: بیماری میتوکندریایی; GFM1; Mitochondrial disease; Congenital disorders of glycosylation; Mitochondrial elongation factor; Cryptic splice site;
Giant Ring Mitochondria in a Patient With Heart Failure and Cerebral White Matter Disease Resulting From an MT-TL1 Mitochondrial Gene Mutation
Keywords: بیماری میتوکندریایی; Cardiomyopathy; mitochondrial disease; mitochondrial genetics; ring mitochondria;
Mitochonic Acid 5 (MA-5) Facilitates ATP Synthase Oligomerization and Cell Survival in Various Mitochondrial Diseases
Keywords: بیماری میتوکندریایی; MA-5; 4-(2,4-difluorophenyl)-2-(1H-indole-3-yl)-4-oxobutanoic acid; MELAS; myopathy encephalopathy lactic acidosis and stroke-like episodes; KSS; Kearns-Sayre syndrome; LHON; Leber hereditary optic neuropathy; ETC; electron transfer complex; BSO; l-buthio
ReviewMetabolomics of mitochondrial disease
Keywords: بیماری میتوکندریایی; Metabolomics; Mitochondrial disease; OXPHOS; Respiratory chain deficiency; Metabolism;
An X-chromosome linked mouse model (Ndufa1S55A) for systemic partial Complex I deficiency for studying predisposition to neurodegeneration and other diseases
Keywords: بیماری میتوکندریایی; Mitochondrial disease; Respiratory chain complex I; NADH-Ubiquinone oxidoreductase; Complex I-Deficient mouse model; NDUFA1; MWFE;
Recent Advances in Mitochondrial Aminoacyl-tRNA Synthetases and Disease
Keywords: بیماری میتوکندریایی; mitochondrial disease; mitochondrial translation; aminoacyl-tRNA synthetase; central nervous system; moonlighting proteins; unfolded protein response;
A novel mitochondrial ATP6 frameshift mutation causing isolated complex V deficiency, ataxia and encephalomyopathy
Keywords: بیماری میتوکندریایی; MT-ATP6; ATP synthase; Mitochondrial disease; Mitochondrial DNA (mtDNA); Complex V deficiency;
A 2 bp deletion in the mitochondrial ATP 6 gene responsible for the NARP (neuropathy, ataxia, and retinitis pigmentosa) syndrome
Keywords: بیماری میتوکندریایی; Mitochondrial disease; Complex V deficiency; Next generation sequencing; ATP6 deletion; NARP syndrome;
Defects in RNA metabolism in mitochondrial disease
Keywords: بیماری میتوکندریایی; RNA metabolism; Mitochondrial disease; tRNA; PARE;
Recessive mutation in EXOSC3 associates with mitochondrial dysfunction and pontocerebellar hypoplasia
Keywords: بیماری میتوکندریایی; Pontocerebellar hypoplasia type 1; Human RNA exosome complex; Pyruvate dehydrogenase deficiency; Complex I deficiency; Mitochondrial disease; Whole exome sequencing; Transcriptome analysis; mtDNA copy numbers;
Inherited Xq13.2-q21.31 duplication in a boy with recurrent seizures and pubertal gynecomastia: Clinical, chromosomal and aCGH characterization
Keywords: بیماری میتوکندریایی; 5-BrdU; 5-bromodeoxyuridine; aCGH; array comparative genomic hybridization; ATRX; alpha thalassemia/mental retardation syndrome X-linked; CNV; copy number variation; CKT; creatinine kinase-phospho-total; CT; computed tomography; FISH; fluorescence in situ
Regular ArticleMutations in TFAM, encoding mitochondrial transcription factor A, cause neonatal liver failure associated with mtDNA depletion
Keywords: بیماری میتوکندریایی; TFAM mutation; mtDNA depletion syndrome; Liver failure; Newborn screening; Mitochondrial disease;
A leaky splicing mutation in NFU1 is associated with a particular biochemical phenotype. Consequences for the diagnosis
Keywords: بیماری میتوکندریایی; NFU1; Lipoic acid; Iron-sulfur cluster; Mitochondrial disease; Mitochondrial cofactor; Metabolic disorder;
Leukoencephalopathy with thalamus and brainstem involvement and high lactate caused by novel mutations in the EARS2 gene in two siblings
Keywords: بیماری میتوکندریایی; Leukodystrophy; Mitochondrial disease; LTBL; Child; Nuclear gene;
3697GÂ >Â A in MT-ND1 is a causative mutation in mitochondrial disease
Keywords: بیماری میتوکندریایی; Leigh disease; Mitochondrial disease; Next Generation Sequencing; Heteroplasmy; Clinical genomics;
Mitochondrial response to the BCKDK-deficiency: Some clues to understand the positive dietary response in this form of autism
Keywords: بیماری میتوکندریایی; BCKDK-deficiency; Bioenergetics profile; Autism; Mitochondrial disease; Mitochondrial elongation; Unrestrained branched-chain amino acids catabolism;
Inactivation of Pif1 helicase causes a mitochondrial myopathy in mice
Keywords: بیماری میتوکندریایی; COX; cytochrome c oxydase; SDH; succinate dehydrogenase; NADH-TR; nicotinamide adenine dinucleotide dehydrogenase tetrazolium reductase; mtDNA; mitochondrial DNA; OXPHOS; oxidative phosphorylation; LX-PCR; long extension-PCR; mPIF67; mitochondrial PIF1 is
Mitochondrial diseases: Drosophila melanogaster as a model to evaluate potential therapeutics
Keywords: بیماری میتوکندریایی; Mitochondrial disease; OxPhos deficiency; Drug target discovery; Drosophila melanogaster; Model organism; OxPhos; oxidative phosphorylation system; CI; Complex I or NADH: ubiquinone oxidoreductase; CII; Complex II or succinate: ubiquinone oxidoreductase;
Mutation loads in different tissues from six pathogenic mtDNA point mutations
Keywords: بیماری میتوکندریایی; 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;
Evolution of FOXRED1, an FAD-dependent oxidoreductase necessary for NADH:ubiquinone oxidoreductase (Complex I) assembly
Keywords: بیماری میتوکندریایی; DAO; D-amino acid oxidase; DDO; D-aspartate oxidase; DMGDH; dimethylglycine dehydrogenase; DMGO; dimethylglycine oxidase; FOXRED; FAD-dependent oxidoreductase; L2HGDH; L-2-hydroxyglutarate dehydrogenase; PDPR; pyruvate dehydrogenase phosphatase regulatory
A mutation in MT-TW causes a tRNA processing defect and reduced mitochondrial function in a family with Leigh syndrome
Keywords: بیماری میتوکندریایی; LS; Leigh Syndrome; MT-TW; mitochondrial tRNA tryptophan; OXPHOS; oxidative phosphorylation; rRNA; ribosomal ribonucleic acid; tRNA; transfer ribonucleic acid; NGS; next generation sequencing; IUGR; intrauterine growth retardation; Leigh syndrome; Multi-o
Urgences musculaires dans les myopathies métaboliques: la rhabdomyolyse
Keywords: بیماری میتوکندریایی; Rhabdomyolyse; Myopathie métabolique; Oxydation des acides gras; Glycogénose; Myopathie mitochondriale; Rhabdomyolysis; Myopathy metabolic; Fatty acid oxidation; Glycogenosis; Mitochondrial disease;
The in cis T251I and P587L POLG1 base changes: Description of a new family and literature review
Keywords: بیماری میتوکندریایی; Gene mutation; Mental retardation; Mitochondrial disease; Polymerase gamma;
Effects of pathogenic mutations in membrane subunits of mitochondrial Complex I on redox activity and proton translocation studied by modeling in Escherichia coli
Keywords: بیماری میتوکندریایی; NADH:ubiquinone oxidoreductase; Proton translocation; Escherichia coli; Mitochondrial disease;
A structural model for FOXRED1, an FAD-dependent oxidoreductase necessary for NADH: Ubiquinone oxidoreductase (complex I) assembly
Keywords: بیماری میتوکندریایی; CPS; carbamoyl phosphate synthase; DAO; d-amino acid oxidase; DMGDH; dimethylglycine dehydrogenase; DMGO; dimethylglycine oxidase; FOXRED; FAD-dependent oxidoreductase; HADHA; hydroxyacyl dehydrogenase; MDH; malate dehydrogenase; MSOX; monomeric sarcosine
Leber hereditary optic neuropathy — Historical report in comparison with the current knowledge
Keywords: بیماری میتوکندریایی; LHON, Leber hereditary optic neuropathy; mtDNA, mitochondrial DNA; ND, NADH:ubiquinone oxidoreductase subunit; RGCs, retinal ganglion cells; ROS, reactive oxygen speciesLHON; Theodor Leber; Mitochondrial disease; Mitochondrial genetics; History
Mitochondrial Disease Sequence Data Resource (MSeqDR): A global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communities
Keywords: بیماری میتوکندریایی; Mitochondrial disease; Genomics; Exome; Data sharing;
Screening of CHCHD10 in a French cohort confirms the involvement of this gene in frontotemporal dementia with amyotrophic lateral sclerosis patients
Keywords: بیماری میتوکندریایی; Frontotemporal lobar degeneration (FTLD); Frontotemporal dementia (FTD); Amyotrophic lateral sclerosis (ALS); CHCHD10; Mitochondrial disease;
Maternally inherited diabetes and deafness (MIDD): Diagnosis and management
Keywords: بیماری میتوکندریایی; Mitochondrial disease; Retinal dystrophy; Deafness; Mitochondrial DNA; Familial diabetes; A to G substitution at position 3243; Mutation 3243 in mitochondrial diabetes; Coenzyme Q10
Mitochondria: Unusual features of the mammalian mitoribosome
Keywords: بیماری میتوکندریایی; Mitochondria; Mitoribosome; mRNA entrance site; Polypeptide exit tunnel; Mitochondrial disease;
Mitochondrial DNA disease-molecular insights and potential routes to a cure
Keywords: بیماری میتوکندریایی; Mitochondrial disease; Treatments; Zinc-finger nucleases; TALENs;