about
Mutations in the gene encoding C8orf38 block complex I assembly by inhibiting production of the mitochondria-encoded subunit ND1Mitochondrial respiratory chain supercomplexes are destabilized in Barth Syndrome patientsCharacterization of mitochondrial FOXRED1 in the assembly of respiratory chain complex IMutation of C20orf7 disrupts complex I assembly and causes lethal neonatal mitochondrial diseaseMutation of the mitochondrial tyrosyl-tRNA synthetase gene, YARS2, causes myopathy, lactic acidosis, and sideroblastic anemia--MLASA syndromeMutations in MTFMT underlie a human disorder of formylation causing impaired mitochondrial translationHuman CIA30 is involved in the early assembly of mitochondrial complex I and mutations in its gene cause diseaseAnalysis of the assembly profiles for mitochondrial- and nuclear-DNA-encoded subunits into complex ICombined defects in oxidative phosphorylation and fatty acid β-oxidation in mitochondrial diseaseTim29 is a novel subunit of the human TIM22 translocase and is involved in complex assembly and stabilityAarF Domain Containing Kinase 3 (ADCK3) Mutant Cells Display Signs of Oxidative Stress, Defects in Mitochondrial Homeostasis and Lysosomal AccumulationProteomic and metabolomic analyses of mitochondrial complex I-deficient mouse model generated by spontaneous B2 short interspersed nuclear element (SINE) insertion into NADH dehydrogenase (ubiquinone) Fe-S protein 4 (Ndufs4) geneMitochondrial cardiolipin involved in outer-membrane protein biogenesis: implications for Barth syndrome.Mitochondrial disease: mutations and mechanisms.Analysis of Mitochondrial DNA in Induced Pluripotent and Embryonic Stem Cells.Impaired Cellular Bioenergetics Causes Mitochondrial Calcium Handling Defects in MT-ND5 Mutant Cybrids.Production of homoplasmic xenomitochondrial miceRestoration of normal embryogenesis by mitochondrial supplementation in pig oocytes exhibiting mitochondrial DNA deficiency.Assembly of mitochondrial complex I and defects in disease.The regulation of mitochondrial DNA copy number in glioblastoma cellsThe identification of mitochondrial DNA variants in glioblastoma multiforme.A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome.Assembly factors of human mitochondrial complex I and their defects in disease.Understanding mitochondrial complex I assembly in health and disease.Mitochondrial dysfunction in a novel form of autosomal recessive ataxia.Dietary interventions designed to protect the perinatal brain from hypoxic-ischemic encephalopathy--Creatine prophylaxis and the need for multi-organ protection.Loss of mitochondrial DNA-encoded protein ND1 results in disruption of complex I biogenesis during early stages of assembly.Deletion of the Complex I Subunit NDUFS4 Adversely Modulates Cellular Differentiation.Generation of Xenomitochondrial Embryonic Stem Cells for the Production of Live Xenomitochondrial Mice.Monocytes and dendritic cells are the primary sources of interleukin 37 in human immune cells.Mitochondrial DNA haplotypes define gene expression patterns in pluripotent and differentiating embryonic stem cells.Mitochondrial ND5 gene variation associated with encephalomyopathy and mitochondrial ATP consumption.Development and initial characterization of xenomitochondrial mice.Functional respiratory chain analyses in murid xenomitochondrial cybrids expose coevolutionary constraints of cytochrome b and nuclear subunits of complex III.Expression of Rattus norvegicus mtDNA in Mus musculus cells results in multiple respiratory chain defects.Mitochondrial DNA haplotypes induce differential patterns of DNA methylation that result in differential chromosomal gene expression patterns.Correction: AarF Domain Containing Kinase 3 (ADCK3) Mutant Cells Display Signs of Oxidative Stress, Defects in Mitochondrial Homeostasis and Lysosomal Accumulation.The effects of nuclear reprogramming on mitochondrial DNA replication.Loss of the Mitochondrial Fatty Acid β-Oxidation Protein Medium-Chain Acyl-Coenzyme A Dehydrogenase Disrupts Oxidative Phosphorylation Protein Complex Stability and Function.Capture of somatic mtDNA point mutations with severe effects on oxidative phosphorylation in synaptosome cybrid clones from human brain.
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hulumtues
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researcher
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հետազոտող
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Matthew McKenzie
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Matthew McKenzie
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Matthew McKenzie
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Matthew McKenzie
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Matthew McKenzie
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type
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Matthew McKenzie
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Matthew McKenzie
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Matthew McKenzie
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Matthew McKenzie
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Matthew McKenzie
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prefLabel
Matthew McKenzie
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Matthew McKenzie
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Matthew McKenzie
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Matthew McKenzie
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Matthew McKenzie
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P1153
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0000-0001-7508-1800