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  • Sandrine Loublier, Aurélien Bayot, Malgorzata Rak, Riyad El-Khoury, Paule Bénit, Pierre Rustin
  • Medicine, Biology
  • Biochemical and biophysical research…
  • 2011 (First Publication: 22 October 2011)
  • Molecular bases of inherited deficiencies of mitochondrial respiratory chain complex I are still unknown in a high proportion of patients. Among 45 subunits making up this large complex, more thanExpand
  • Hélène Pagniez-Mammeri, Sandrine Loublier, Alain Legrand, Paule Bénit, Pierre Rustin, Abdelhamid Slama
  • Biology, Medicine
  • Molecular genetics and metabolism
  • 2012 (First Publication: 1 February 2012)
  • Complex I (or NADH-ubiquinone oxidoreductase), is by far the largest respiratory chain complex with 38 subunits nuclearly encoded and 7 subunits encoded by the mitochondrial genome. Its deficiency isExpand
  • Melanie Schiff, Sandrine Loublier, Anna Coulibaly, Paule Bénit, Hélène Ogier de Baulny, Pierre Rustin
  • Biology, Medicine
  • Journal of Inherited Metabolic Disease
  • 2009 (First Publication: 11 October 2009)
  • SummaryDiabetes mellitus is occasionally observed in patients with skeletal muscle respiratory chain deficiency, suggesting that skeletal muscle mitochondrial dysfunction might play a pathogenic roleExpand