Mitochondrial diseases, Biochimica et Biophysica Acta (BBA) - Bioenergetics, vol.1658, issue.1-2, pp.80-88, 2004. ,
DOI : 10.1016/j.bbabio.2004.03.014
URL : https://hal.archives-ouvertes.fr/hal-00537248
Les maladies mitochondriales : m??canismes mol??culaires, principaux cadres cliniques et approches diagnostiques, Annales de Pathologie, vol.25, issue.4, pp.270-281, 2005. ,
DOI : 10.1016/S0242-6498(05)80131-2
Clinical, biochemical and morphological features of hepatocerebral syndrome with mitochondrial DNA depletion due to deoxyguanosine kinase deficiency, J Hepatol, vol.43, pp.333-341, 2005. ,
Twinkle helicase (PEO1) gene mutation causes mitochondrial DNA depletion POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion, Ann Neurol Ann Neurol, vol.6255, pp.579-587706, 2004. ,
Acute infantile liver failure due to mutations in the TRMU gene, Engl J Med Am J Hum Genet, vol.351859, pp.2080-2086401, 2004. ,
Mutation in the mitochondrial translation elongation factor EFTs results in severe infantile liver failure, Journal of Hepatology, vol.56, issue.1, pp.294-297, 2012. ,
DOI : 10.1016/j.jhep.2011.06.014
GRACILE Syndrome, a Lethal Metabolic Disorder with Iron Overload, Is Caused by a Point Mutation in BCS1L, The American Journal of Human Genetics, vol.71, issue.4, pp.863-876, 2002. ,
DOI : 10.1086/342773
A deletion in the human QP-C gene causes a complex III deficiency resulting in hypoglycaemia and lactic acidosis, Hum Genet, vol.113, pp.118-122, 2003. ,
Mutations in TTC19 cause mitochondrial complex III deficiency and neurological impairment in humans and flies, Nature Genetics, vol.264, issue.3, pp.259-263, 2011. ,
DOI : 10.1038/nature05954
Mutations in the UQCC1-Interacting Protein, UQCC2, Cause Human Complex III Deficiency Associated with Perturbed Cytochrome b Protein Expression, PLoS Genetics, vol.1793, issue.22, p.1004034, 2013. ,
DOI : 10.1371/journal.pgen.1004034.s009
A mutation in the human CBP4 ortholog UQCC3 impairs complex III assembly, activity and cytochrome b stability, Hum Mol Genet, vol.23, pp.6356-6365, 2014. ,
Associated with Early Onset Encephalopathy, Lactic Acidosis, and Severe Reduction of Mitochondrial Complex III Activity, Human Mutation, vol.264, issue.12, pp.1619-1622, 2013. ,
DOI : 10.1002/humu.22441
Respiratory complex III dysfunction in humans and the use of yeast as a model organism to study mitochondrial myopathy and associated diseases, Biochimica et Biophysica Acta (BBA) - Bioenergetics, vol.1827, issue.11-12, pp.1346-1361, 2013. ,
DOI : 10.1016/j.bbabio.2012.11.015
Mitochondrial Complex III Deficiency Associated with a Homozygous Mutation in UQCRQ, The American Journal of Human Genetics, vol.82, issue.5, pp.1211-1216, 2008. ,
DOI : 10.1016/j.ajhg.2008.03.020
Impact on oxidative phosphorylation of immortalization with the telomerase gene, Neuromuscular Disorders, vol.17, issue.5, pp.368-375, 2007. ,
DOI : 10.1016/j.nmd.2007.01.019
Analysis of Oxidative Phosphorylation Complexes in Cultured Human Fibroblasts and Amniocytes by Blue-Native-Electrophoresis Using Mitoplasts Isolated with the Help of Digitonin, Analytical Biochemistry, vol.231, issue.1, pp.218-224, 1995. ,
DOI : 10.1006/abio.1995.1523
Blue native electrophoresis for isolation of membrane protein complexes in enzymatically active form, Analytical Biochemistry, vol.199, issue.2, pp.223-231, 1991. ,
DOI : 10.1016/0003-2697(91)90094-A
Functional characterization of novel mutations in the human cytochrome b gene, European Journal of Human Genetics, vol.9, issue.7, pp.510-518, 2001. ,
DOI : 10.1038/sj.ejhg.5200678
Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing, Journal of Medical Genetics, vol.49, issue.4, pp.277-283, 2012. ,
DOI : 10.1136/jmedgenet-2012-100846
Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease, Nature Genetics, vol.372, issue.2, pp.214-219, 2013. ,
DOI : 10.1093/nar/gkr470
Mutations are Associated with Hypertrophic Cardiomyopathy and Lactic Acidosis and Cause Respiratory Chain Deficiency in Humans and Yeast, Human Mutation, vol.16, issue.11, pp.1501-1509, 2013. ,
DOI : 10.1002/humu.22393
Cellular rescue-assay aids verification of causative DNA-variants in mitochondrial complex I deficiency, Molecular Genetics and Metabolism, vol.103, issue.2, pp.161-166, 2011. ,
DOI : 10.1016/j.ymgme.2011.03.004
Mitochondrial protein quality control in health and disease, British Journal of Pharmacology, vol.284, issue.Suppl 1, pp.1870-1889, 2014. ,
DOI : 10.1111/bph.12430
Biogenesis of the yeast cytochrome bc1 complex, Biochimica et Biophysica Acta (BBA) - Molecular Cell Research, vol.1793, issue.1 ,
DOI : 10.1016/j.bbamcr.2008.04.011
Chapter 1 The Mitochondrial Proteome Database, Methods Enzymol, vol.457, pp.3-20, 2009. ,
DOI : 10.1016/S0076-6879(09)05001-0
Mutations of the Mitochondrial-tRNA Modifier MTO1 Cause Hypertrophic Cardiomyopathy and Lactic Acidosis, The American Journal of Human Genetics, vol.90, issue.6, 2012. ,
DOI : 10.1016/j.ajhg.2012.04.011
Isolation and Characterization of the Putative Nuclear Modifier Gene MTO1 Involved in the Pathogenesis of Deafness-associated Mitochondrial 12 S rRNA A1555G Mutation, Journal of Biological Chemistry, vol.277, issue.30, pp.27256-27264, 2002. ,
DOI : 10.1074/jbc.M203267200
The fasting test in paediatrics: Application to the diagnosis of pathological hypo- and hyperketotic states, European Journal of Pediatrics, vol.138, issue.Suppl 1, pp.80-85, 1990. ,
DOI : 10.1007/BF02072043
Impaired complex III assembly associated with BCS1L gene mutations in isolated mitochondrial encephalopathy, Human Molecular Genetics, vol.16, issue.10, pp.1241-1252, 2007. ,
DOI : 10.1093/hmg/ddm072
Bcs1, a AAA protein of the mitochondria with a role in the biogenesis of the respiratory chain, Journal of Structural Biology, vol.179, issue.2, pp.121-125, 2012. ,
DOI : 10.1016/j.jsb.2012.04.019
Conserved Cysteine Residues of GidA Are Essential for Biogenesis of 5-Carboxymethylaminomethyluridine at tRNA Anticodon, Structure, vol.17, issue.5, pp.713-724, 2009. ,
DOI : 10.1016/j.str.2009.03.013