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European Journal of Medical Genetics|February 14, 2006
Another observation with VATER association and a complex IV respiratory chain deficiencyChristel Thauvin-Robinet, Laurence Faivre, Frédéric Huet, et al.
The Journal of Clinical Endocrinology and Metabolism|March 24, 2005
Respiratory chain defects may present only with hypoglycemiaFanny Mochel, Abdelhamid Slama, Guy Touati, et al.
Proceedings of the National Academy of Sciences of the United States of America|June 22, 2006
Loss of Aif function causes cell death in the mouse embryo, but the temporal progression of patterning is normalDoris Brown, Benjamin D Yu, Nicholas Joza, et al.
Human Molecular Genetics|March 16, 2004
Mitochondrial transcription factor A regulates mtDNA copy number in mammalsMats I Ekstrand, Maria Falkenberg, Anja Rantanen, et al.
Human Genetics|April 24, 2003
A deletion in the human QP-C gene causes a complex III deficiency resulting in hypoglycaemia and lactic acidosisSandrine Haut, Michèle Brivet, Guy Touati, et al.
Science (New York, N.Y.)|January 20, 2016
Imbalanced OPA1 processing and mitochondrial fragmentation cause heart failure in miceTimothy Wai, Jaime García-Prieto, Michael J Baker, et al.
Brain : a Journal of Neurology|November 29, 2011
Downregulation of apoptosis-inducing factor in Harlequin mice induces progressive and severe optic atrophy which is durably prevented by AAV2-AIF1 gene therapyAicha Bouaita, Sébastien Augustin, Christophe Lechauve, et al.
Molecular and Cellular Biology|May 31, 2012
Cells lacking the fumarase tumor suppressor are protected from apoptosis through a hypoxia-inducible factor-independent, AMPK-dependent mechanismChiara Bardella, Martina Olivero, Annalisa Lorenzato, et al.
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