Keywords: کمبود کمپلکس I; Leigh syndrome; Complex I deficiency; Heteroplasmy; mDNA mutation
مقالات ISI کمبود کمپلکس I (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.
Pure myopathy with enlarged mitochondria associated to a new mutation in MTND2 gene
Keywords: کمبود کمپلکس I; ND2; Exercise intolerance; Complex I deficiency;
Lifetime exercise intolerance with lactic acidosis as key manifestation of novel compound heterozygous ACAD9 mutations causing complex I deficiency
Keywords: کمبود کمپلکس I; Isolated myopathy; Complex I deficiency; ACAD9 mutations; Life-long exercise intolerance;
Increase in proteins involved in mitochondrial fission, mitophagy, proteolysis and antioxidant response in type I endometrial cancer as an adaptive response to respiratory complex I deficiency
Keywords: کمبود کمپلکس I; Endometrial carcinoma; Complex I deficiency; Mitochondrial dynamics; BNIP3; CLPP; ALR;
Recessive mutation in EXOSC3 associates with mitochondrial dysfunction and pontocerebellar hypoplasia
Keywords: کمبود کمپلکس I; Pontocerebellar hypoplasia type 1; Human RNA exosome complex; Pyruvate dehydrogenase deficiency; Complex I deficiency; Mitochondrial disease; Whole exome sequencing; Transcriptome analysis; mtDNA copy numbers;
Modulation of mitochondrial dysfunction-related oxidative stress in fibroblasts of patients with Leigh syndrome by inhibition of prooxidative p66Shc pathway
Keywords: کمبود کمپلکس I; Reactive oxygen species; Leigh syndrome; Complex I deficiency; Mitochondrial dysfunction; Hispidin;
Evidence of a wide spectrum of cardiac involvement due to ACAD9 mutations: Report on nine patients
Keywords: کمبود کمپلکس I; ACAD9; Acyl-COA dehydrogenase 9; Cardiomyopathy; Complex I deficiency;
Neonatal multiorgan failure due to ACAD9 mutation and complex I deficiency with mitochondrial hyperplasia in liver, cardiac myocytes, skeletal muscle, and renal tubules
Keywords: کمبود کمپلکس I; Mitochondriopathy; Complex I deficiency; ACAD9 defect; Lethal neonatal lactic acidosis; Multiorgan failure; Metabolic disease; Mitochondrial hyperplasia; Whole-exome sequencing
Resveratrol attenuates oxidative stress in mitochondrial Complex I deficiency: Involvement of SIRT3
Keywords: کمبود کمپلکس I; Complex I deficiency; Oxidative stress; Mitochondrial diseases; Pharmacological therapy; Resveratrol; SOD2; SIRT3;
Transcriptional changes in OXPHOS complex I deficiency are related to anti-oxidant pathways and could explain the disturbed calcium homeostasis
Keywords: کمبود کمپلکس I; Gene expression; Complex I deficiency; Mitochondrion; Oxidative stress; Selenoprotein; Nrf2;
Understanding mitochondrial complex I assembly in health and disease
Keywords: کمبود کمپلکس I; Mitochondria; Respiratory chain; Complex I; Complex I deficiency; Assembly factor
Molecular base of biochemical complex I deficiency
Keywords: کمبود کمپلکس I; Mitochondrial disorder; Complex I deficiency; Genetic defects;
Early prenatal ventriculomegaly due to an AIFM1 mutation identified by linkage analysis and whole exome sequencing
Keywords: کمبود کمپلکس I; Anti-apoptotic factor; Complex I deficiency; Ventriculomegaly;
Cellular rescue-assay aids verification of causative DNA-variants in mitochondrial complex I deficiency
Keywords: کمبود کمپلکس I; Mitochondrial disease; Complex I deficiency; NDUFS1; Lentiviral complementation; Leigh syndrome
Analysis of functional consequences of haplogroup J polymorphisms m.4216T > C and m.3866T > C in human MT-ND1: Mutagenesis of homologous positions in Escherichia coli
Keywords: کمبود کمپلکس I; NADH dehydrogenase; Complex I deficiency; Mitochondrial DNA; Site-directed mutagenesis
Respiratory chain complex I deficiency in an infant with Ohtahara syndrome
Keywords: کمبود کمپلکس I; Complex I deficiency; Mitochondrial dysfunction; Ohtahara syndrome
The unique neuroradiology of complex I deficiency due to NDUFA12L defect
Keywords: کمبود کمپلکس I; Mitochondrial respiratory chain defect; Complex I deficiency; NDUFA12L
Mitochondrial Ca2+ homeostasis in human NADH:ubiquinone oxidoreductase deficiency
Keywords: کمبود کمپلکس I; Complex I deficiency; Human skin fibroblasts; Endoplasmic reticulum Ca2+ content; Mitochondrial Ca2+ concentration; Mitochondrial ATP production; Cytosolic Ca2+ removal; CGP37157
A novel mutation in the human complex I NDUFS7 subunit associated with Leigh syndrome
Keywords: کمبود کمپلکس I; Respiratory chain deficiency; Mitochondria; Leigh syndrome; NDUSF7; Complex I deficiency
Contrasting phenotypes in three patients with novel mutations in mitochondrial tRNA genes
Keywords: کمبود کمپلکس I; Mitochondrial myopathy; Mitochondrial encephalomyopathy; Pigmentary retinopathy; Mitochondrial DNA; Mitochondrial tRNA mutation; Complex I deficiency; Complex IV deficiency; Cytochrome c oxidase negative fibers; Hair root analysis; Pathogenesis of mitocho