title: Cellular and animal models for mitochondrial complex I deficiency: a focus on the NDUFS4 subunit.
abstract: To allow the rational design of effective treatment strategies for human mitochondrial disorders, a proper understanding of their biochemical and pathophysiological aspects is required. The development and evaluation of these strategies require suitable model systems. In humans, inherited complex I (CI) deficiency is one of the most common deficiencies of the mitochondrial oxidative phosphorylation system. During the last decade, various cellular and animal models of CI deficiency have been presented involving mutations and/or deletion of the Ndufs4 gene, which encodes the NDUFS4 subunit of CI. In this review, we discuss these models and their validity for studying human CI deficiency.
authors: Department of Biochemistry, Nijmegen Centre for Molecular Life Sciences, Radboud University Medical Centre, Nijmegen, The Netherlands.
authors: Megan E
authors: ME
authors: Breuer
authors: Peter H G M
authors: PH
authors: Willems
authors: Jan A M
authors: JA
authors: Smeitink
authors: Werner J H
authors: WJ
authors: Koopman
authors: Marco
authors: M
authors: Nooteboom
mesh_terms: D000818:Animals; D002118:Calcium / Q000378:metabolism; D004195:Disease Models, Animal; D042967:Electron Transport Complex I / Q000172:deficiency / Q000235:genetics / Q000378:metabolism; D005091:Exons; D005347:Fibroblasts / Q000378:metabolism / Q000473:pathology; D015870:Gene Expression; D006801:Humans; D051379:Mice; D008928:Mitochondria / Q000235:genetics / Q000378:metabolism / Q000473:pathology; D028361:Mitochondrial Diseases / Q000235:genetics* / Q000378:metabolism / Q000473:pathology; D008954:Models, Biological; D009154:Mutation; D009245:NADH Dehydrogenase / Q000235:genetics* / Q000378:metabolism; D010085:Oxidative Phosphorylation; D021122:Protein Subunits / Q000235:genetics* / Q000378:metabolism
chemical_list: D021122:Protein Subunits; D009245:NADH Dehydrogenase; D042967:Electron Transport Complex I; C427643:NDUFS4 protein, human; D002118:Calcium