1,721,176 research outputs found
Mitochondrial Medicine: assay development and application with special emphasis on human complex V
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98583.pdf (Publisher’s version ) (Open Access)Radboud Universiteit Nijmegen, 17 januari 2013Promotor : Smeitink, J.A.M. Co-promotor : Rodenburg, R.J.T
The versatility of the mitochondrial proteome. The versatility of the mitochondrial proteome. Computational and wet lab approaches to study the human mitochondrial gene expression proteome and the complete Plasmodium falciparum mitochondrial promoteome
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236415.pdf (Publisher’s version ) (Open Access)Radboud University, 27 september 2021Promotor : Huijnen, M.A. Co-promotores : Spelbrink, J.N., Rodenburg, R.J.T.187 p
The 3-methylglutaconic acidurias revisited
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106936.pdf (Publisher’s version ) (Open Access)Radboud Universiteit Nijmegen, 03 april 2013Promotores : Wevers, R.A., Smeitink, J.A.M., Morava, E. Co-promotor : Rodenburg, R.J.T
New gene defects for human complex I deficiency.
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90832.pdf (Publisher’s version ) (Open Access)Radboud Universiteit Nijmegen, 01 september 2011Promotores : Heuvel, L.P.W.J. van den, Smeitink, J.A.M. Co-promotor : Rodenburg, R.J.T.135 p
Mitochondrial proteomics. Method development and application
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139525.pdf (Publisher’s version ) (Open Access)Radboud Universiteit Nijmegen, 12 maart 2015Promotores : Smeitink, J.A.M., Heuvel, L.P.W.J. van den Co-promotores : Rodenburg, R.J.T., Gloerich, J
Biochemical diagnostics for mitochondrial (encephalo)myopathies
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52779.pdf (Publisher’s version ) (Open Access)A new entity for mitochondrial functioning is described: MEGS (mitochondrial energy generating system). MEGS capacity was studied in intact, coupled muscle mitochondria, by measuring 14CO2 production rates from oxidation of 14C-labelled substrates and by measuring ATP production rates from oxidation of pyruvate, in 43 controls and 29 patients with proven deficiencies in several enzymes of the MEGS. The method can successfully be applied to trace MEGS-disturbances in patients suffering from mitochondrial diseases. MEGS capacity, studied in a cohort of 24 patients with a mtDNA 3243A>G mutation, correlated significantly with the percentage heteroplasmy and with complex I activity. MEGS capacity parameters were more sensitive to trace patients with mtDNA mutations than measuring complex I, III and IV activities. Complex I deficiency is the most frequently encountered cause of mitochondrial disease. Complex I activity is mostly studied by spectrophotometric assays, measuring rotenone-sensitive NADH oxidation. The sensitivity and specificity of these methods are not optimal. A new, highly specific and sensitive complex I assay is described, based on measuring DCIP reduction by electrons accepted from decylubiquinol, reduced after oxidation of NADH by complex I. Nonspecific NADH oxidation is not measured because electrons produced in these reactions are not accepted by decylubiquinone, resulting in a high rotenone sensitivity. The method can successfully be applied to the diagnosis of complex I deficiency. Prerequisites for offering enzymatic prenatal diagnostics for OXPHOS disorders are described. The results of 47 enzymatic prenatal diagnostics for complex IV, thirty-six for complex I, and fourteen for combined deficiency of complex I and IV are presented. Prenatal diagnostics for OXPHOS disorders is most reliable if performed on molecular genetic base. If the genetic defect is unknown, enzymatic prenatal diagnostics for complex I and IV can be offered only under strict observance of a number of precautions.RU Radboud Universiteit Nijmegen, 29 november 2007Promotores : Trijbels, J.M.F., Smeitink, J.A.M. Co-promotores : Heuvel, L.P.W.J. van den, Rodenburg, R.J.T.157 p
Mitochondrial complex I-linked disease
No full textItem does not contain fulltextComplex I deficiency is the most frequently encountered single mitochondrial single enzyme deficiency in patients with a mitochondrial disorder. Although specific genotype-phenotype correlations are very difficult to identify, the majority of patients present with symptoms caused by leukodystrophy. The poor genotype-phenotype correlations can make establishing a diagnosis a challenge. The classical way to establish a complex I deficiency in patients is by performing spectrophotometric measurements of the enzyme in a muscle biopsy or other patient-derived material (liver or heart biopsy, cultured skin fibroblasts). Complex I is encoded by both the mtDNA and nuclear DNA and pathogenic mutations have been identified in the majority of the 44 genes encoding the structural subunits of complex I. In recent years, the increasing possibilities for diagnostic molecular genetic tests of large gene panels, exomes, and even entire genomes has led to the identification of many novel genetic defects causing complex I deficiency. Complex I mutations not only result in a reduced enzyme activity but also induce secondary effects at the cellular level, such as elevated reactive oxygen species production, altered membrane potential and mitochondrial morphology. At this moment there is no cure for complex I deficiency and the treatment options for complex I patients are restricted to symptomatic treatment. Recent developments, amongst others based on the treatment of the secondary effects of complex I deficiency, have shown to be promising as new therapeutic strategies in vitro and have entered clinical trials. This article is part of a Special Issue entitled Respiratory complex I, edited by Volker Zickermann and Ulrich Brandt
Going Beyond Counting First Authors in Author Co-citation Analysis
Full text linkThe present study examines one of the fundamental aspects of author co-citation analysis (ACA) - the way co-citation
counts are defined. Co-citation counting provides the data on which all subsequent statistical analyses and mappings
are based, and we compare ACA results based on two different types of co-citation counting - the traditional type that
only counts the first one among a cited work's authors on the one hand and a non-traditional type that takes into
account the first 5 authors of a cited work on the other hand. Results indicate that the picture produced through this non-traditional author co-citation counting contains more coherent author groups and is therefore considerably clearer. However, this picture represents fewer specialties in the research field being studied than that produced through the traditional first-author co-citation counting when the same number of top-ranked authors is selected and analyzed. Reasons for these effects are discussed
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