Article
Mitochondrial complex I deficiency of nuclear origin II. Non-structural genes.
Molecular genetics and metabolism - 1 Feb 2012
Pagniez-Mammeri Hélène, Rak Malgorzata, Legrand Alain, Bénit Paule, Rustin Pierre, Slama Abdelhamid
Abstract excerpt
Complex I deficiency is the most frequent cause of respiratory chain diseases. This large multiprotein complex is composed in human of 45 structural subunits, of which 7 are mitochondrial-encoded and 38 are nuclear-encoded. Most of the pathological mutations responsible for complex I deficiencies have been identified to date in complex I structural subunits. Numerous studies from last decade gave some insight...
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