Article
Cellular pathophysiological consequences of BCS1L mutations in mitochondrial complex III enzyme deficiency.
Human mutation - 1 Aug 2010
Morán María, Marín-Buera Lorena, Gil-Borlado M Carmen, Rivera Henry, Blázquez Alberto, Seneca Sara, Vázquez-López María, Arenas Joaquín, Martín Miguel A, Ugalde Cristina
Abstract excerpt
Mutations in BCS1L, an assembly factor that facilitates the insertion of the catalytic Rieske Iron-Sulfur subunit into respiratory chain complex III, result in a wide variety of clinical phenotypes that range from the relatively mild Björnstad syndrome to the severe GRACILE syndrome. To better understand the pathophysiological consequences of such mutations, we studied fibroblasts from six complex III-deficient...
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