about
SDHA mutations causing a multisystem mitochondrial disease: novel mutations and genetic overlap with hereditary tumorsAcyl-CoA dehydrogenase 9 is required for the biogenesis of oxidative phosphorylation complex IA mutation in the human CBP4 ortholog UQCC3 impairs complex III assembly, activity and cytochrome b stabilityMutations in the UQCC1-interacting protein, UQCC2, cause human complex III deficiency associated with perturbed cytochrome b protein expressionLC-MS/MS as an alternative for SDS-PAGE in blue native analysis of protein complexesDistinct clinical phenotypes associated with a mutation in the mitochondrial translation elongation factor EFTsMitochondrial disorders in children: toward development of small-molecule treatment strategiesNew findings in a global approach to dissect the whole phenotype of PLA2G6 gene mutationsTRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain DeficienciesTMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal GlycosylationMutations in COA6 cause cytochrome c oxidase deficiency and neonatal hypertrophic cardiomyopathySudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2Mutations in RARS cause hypomyelinationNDUFA2 complex I mutation leads to Leigh diseaseAnalysis of 953 human proteins from a mitochondrial HEK293 fraction by complexome profilingRecurrent De Novo Dominant Mutations in SLC25A4 Cause Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy NumberDeficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.Functional consequences of mitochondrial tRNA Trp and tRNA Arg mutations causing combined OXPHOS defects.The role of the mitochondrial ribosome in human disease: searching for mutations in 12S mitochondrial rRNA with high disruptive potential.A guide to diagnosis and treatment of Leigh syndrome.In search of secreted protein biomarkers for the anti-inflammatory effect of beta2-adrenergic receptor agonists: application of DIGE technology in combination with multivariate and univariate data analysis tools.Expression of macrophage-derived chemokine (MDC) mRNA in macrophages is enhanced by interleukin-1beta, tumor necrosis factor alpha, and lipopolysaccharide.A combination of proteomics, principal component analysis and transcriptomics is a powerful tool for the identification of biomarkers for macrophage maturation in the U937 cell line.Characterization of anti-inflammatory compounds using transcriptomics, proteomics, and metabolomics in combination with multivariate data analysis.Mild orotic aciduria in UMPS heterozygotes: a metabolic finding without clinical consequences.Leigh-Like Syndrome Due to Homoplasmic m.8993T>G Variant with Hypocitrullinemia and Unusual Biochemical Features Suggestive of Multiple Carboxylase Deficiency (MCD).RARS2 Mutations: Is Pontocerebellar Hypoplasia Type 6 a Mitochondrial Encephalopathy?Modulation of oxidative phosphorylation and redox homeostasis in mitochondrial NDUFS4 deficiency via mesenchymal stem cells.Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defectNovel infantile-onset leukoencephalopathy with high lactate level and slow improvement.Mutations in APOPT1, encoding a mitochondrial protein, cause cavitating leukoencephalopathy with cytochrome c oxidase deficiency.Respiratory chain complex I deficiency due to NDUFA12 mutations as a new cause of Leigh syndrome.Mitochondrial ATP synthase: architecture, function and pathology.Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome.Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness.Phenylbutyrate increases pyruvate dehydrogenase complex activity in cells harboring a variety of defects.NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern.CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorderBeta-adrenergic receptor agonists induce the release of granulocyte chemotactic protein-2, oncostatin M, and vascular endothelial growth factor from macrophages.Unheated Cannabis sativa extracts and its major compound THC-acid have potential immuno-modulating properties not mediated by CB1 and CB2 receptor coupled pathways.
P50
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P50
description
hulumtues
@sq
onderzoeker
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researcher
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ricercatore
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հետազոտող
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name
Richard J Rodenburg
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Richard J Rodenburg
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Richard J Rodenburg
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Richard J Rodenburg
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type
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Richard J Rodenburg
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Richard J Rodenburg
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Richard J Rodenburg
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Richard J Rodenburg
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Richard Rodenburg
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Rodenburg R
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Richard J Rodenburg
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Richard J Rodenburg
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Richard J Rodenburg
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Richard J Rodenburg
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P1006
P214
P1006
P1053
N-3579-2014
P106
P21
P213
0000 0003 8851 5692
P214
P2798
P31
P3829
P496
0000-0001-5227-3527
P735
P7859
viaf-281727210