Article
Investigation of the complex I assembly chaperones B17.2L and NDUFAF1 in a cohort of CI deficient patients.
Molecular genetics and metabolism - 1 Jun 2007
Vogel Rutger O, van den Brand Mariël A M, Rodenburg Richard J, van den Heuvel Lambert P W J, Tsuneoka Makoto, Smeitink Jan A M, Nijtmans Leo G J
Abstract excerpt
Dysfunction of complex I (NADH:ubiquinone oxidoreductase; CI), the largest enzyme of the oxidative phosphorylation (OXPHOS) system, often results in severe neuromuscular disorders and early childhood death. Mutations in its seven mitochondrial and 38 nuclear DNA-encoded structural components can only partly explain these deficiencies. Recently, CI assembly chaperones NDUFAF1 and B17.2L were linked to CI...
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