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Tucker, E, Compton, A, McKenzie, M, Calvo, S, Pagliarini, D, Mootha, V, Ryan, M, Thorburn, D.
74 A splice-site mutation in C8orf38 causes impaired Complex I assembly due to a defect in translation or integration of ND1 into an early assembly intermediate.
Mitochondrion
10(2)
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221
2010
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Lazarou, M, Smith, SM, Thorburn, DR, Ryan, MT, McKenzie, M.
Assembly of nuclear DNA-encoded subunits into mitochondrial complex IV, and their preferential integration into supercomplex forms in patient mitochondria..
FEBS J
276(22)
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6701 -6713
2009
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Coughlan, MT, Thorburn, DR, Penfold, SA, Laskowski, A, Harcourt, BE, Sourris, KC, Tan, ALY, Fukami, K, Thallas-Bonke, V, Nawroth, PP, et al.
RAGE-induced cytosolic ROS promote mitochondrial superoxide generation in diabetes..
J Am Soc Nephrol
20(4)
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742 -752
2009
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Murayama, K, Nagasaka, H, Tsuruoka, T, Omata, Y, Horie, H, Tregoning, S, Thorburn, DR, Takayanagi, M, Ohtake, A.
Intractable secretory diarrhea in a Japanese boy with mitochondrial respiratory chain complex I deficiency..
Eur J Pediatr
168(3)
:
297 -302
2009
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de Leon, EJ, Cooper, S, Minchenko, J, Thorburn, D, Christodoulou, J.
20. Unmasking Respiratory Chain Defects by Forced Myogenesis.
Mitochondrion
9(1)
:
65 -66
2009
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