Article
Pathogenetic mechanisms in hereditary dysfunctions of complex I of the respiratory chain in neurological diseases.
Biochimica et biophysica acta - 1 May 2009
Papa Sergio, Petruzzella Vittoria, Scacco Salvatore, Sardanelli Anna Maria, Iuso Arcangela, Panelli Damiano, Vitale Rita, Trentadue Raffaella, De Rasmo Domenico, Capitanio Nazzareno, Piccoli Claudia, Papa Francesco, Scivetti Michele, Bertini Enrico, Rizza Teresa, De Michele Giuseppe
Abstract excerpt
This paper covers genetic and biochemical aspects of mitochondrial bioenergetics dysfunction in hereditary neurological disorders associated with complex I defects. Three types of hereditary complex I dysfunction are dealt with: (i) homozygous mutations in the nuclear genes NDUFS1 and NDUFS4 of c...
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