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Publication year
2008Source
Methods: a Journal for Human Science, 46, 4, (2008), pp. 281-7ISSN
Publication type
Article / Letter to editor
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Organization
Paediatrics - OUD tm 2017
Journal title
Methods: a Journal for Human Science
Volume
vol. 46
Issue
iss. 4
Page start
p. 281
Page end
p. 7
Subject
IGMD 8: Mitochondrial medicine; NCMLS 4: Energy and redox metabolism; UMCN 5.3: Cellular energy metabolismAbstract
Defects in mitochondrial oxidative phosphorylation (OXPHOS) are a frequent cause of severe inherited metabolic disorders and also contribute to aging. The OXPHOS system constitutes five multi-subunit complexes embedded in the mitochondrial inner membrane. Correct function of this system requires proper assembly of the approximately 80 proteins in the complexes, as well as numerous assembly factors. Blue native electrophoresis has become a crucial tool to investigate OXPHOS-related defects in mitochondrial disease patients. In addition, OXPHOS-assembly profiles can be obtained by two dimensional blue native/SDS gel electrophoresis, which provides additional information for identifying disease-causing mutations and insight in the role of specific proteins in the biogenesis of the OXPHOS system. Here we provide a practical guide on how to set-up the basic technique to study OXPHOS defects in patient-derived cells and tissues.
This item appears in the following Collection(s)
- Academic publications [238441]
- Electronic publications [122536]
- Faculty of Medical Sciences [90373]
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