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
Clinical and molecular features of mitochondrial DNA depletion syndromes The clinical features of Leber's hereditary optic neuropathy defined by the presence of a pathogenic mitochondrial DNA mutation, J. Inherit. Metab. Dis. Brain, vol.325, issue.1182, pp.143-158, 1995. ,
Adult cases of mitochondrial DNA depletion due to TK2 defect: An expanding spectrum, Neurology, vol.78, issue.9, pp.644-648, 2012. ,
DOI : 10.1212/WNL.0b013e318248df2b
What is influencing the phenotype of the common homozygous polymerase-gamma mutation p.Ala467Thr?, Brain, vol.135, pp.3614-3626, 2012. ,
Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background, Am. J. Hum. Genet, vol.8, pp.81-228, 2007. ,
Variation in OPA1 does not explain the incomplete penetrance of Leber hereditary optic neuropathy, Mol. Vis, vol.16, pp.2760-2764, 2010. ,
Genetic variation in the methylenetetrahydrofolate reductase gene, MTHFR, does not alter the risk of visual failure in Leber's hereditary optic neuropathy, Mol. Vis, pp.15-870, 2009. ,
Identification of an X-chromosomal locus and haplotype modulating the phenotype of a mitochondrial DNA disorder, Am. J. Hum. Genet, pp.77-1086, 2005. ,
Differences in reactive oxygen species production explain the phenotypes associated with common mouse mitochondrial DNA variants, Nature Genetics, vol.10, issue.11, pp.38-1261, 2006. ,
DOI : 10.1038/ng1897
Reactive oxygen species and the segregation of mtDNA sequence variants, Nature Genetics, vol.65, issue.5, pp.571-572, 2007. ,
DOI : 10.1038/ng0507-571
The A3243G tRNALeu(UUR) MELAS mutation causes amino acid misincorporation and a combined respiratory chain assembly defect partially suppressed by overexpression of EFTu and EFG2, Human Molecular Genetics, vol.17, issue.23, pp.3697-3707, 2008. ,
DOI : 10.1093/hmg/ddn265
RETRACTED: Bezafibrate improves mitochondrial function in the CNS of a mouse model of mitochondrial encephalopathy, Mitochondrion, vol.13, issue.5, pp.10-1016, 2013. ,
DOI : 10.1016/j.mito.2012.12.003
RETRACTED: Activation of the PPAR/PGC-1?? Pathway Prevents a Bioenergetic Deficit and Effectively Improves a Mitochondrial Myopathy Phenotype, Cell Metabolism, vol.8, issue.3, pp.249-256, 2008. ,
DOI : 10.1016/j.cmet.2008.07.006
mtDNA depletion myopathy: elucidation of the tissue specificity in the mitochondrial thymidine kinase (TK2) deficiency, Molecular Genetics and Metabolism, vol.79, issue.1, pp.79-80, 2003. ,
DOI : 10.1016/S1096-7192(03)00063-5
The molecular basis for tissue specificity of the oxidative phosphorylation deficiencies in patients with mutations in the mitochondrial translation factor EFG1, Human Molecular Genetics, vol.15, issue.11, pp.15-1835, 2006. ,
DOI : 10.1093/hmg/ddl106
An antigenomic strategy for treating heteroplasmic mtDNA disorders, Adv. Drug Deliv. Rev, vol.49, pp.121-125, 2001. ,
Rapid directional shift of mitochondrial DNA heteroplasmy in animal tissues by a mitochondrially targeted restriction endonuclease, Proceedings of the National Academy of Sciences, vol.102, issue.40, pp.14392-14397, 2005. ,
DOI : 10.1073/pnas.0502896102
Oligomycin induces a decrease in the cellular content of a pathogenic mutation in the human mitochondrial ATPase 6 gene, J. Biol. Chem, vol.274, pp.9386-9391, 1999. ,
Reversal of a mitochondrial DNA defect in human skeletal muscle, Nat. Genet, vol.16, pp.222-224, 1997. ,
Resistance training in patients with single, large-scale deletions of mitochondrial DNA, Brain, vol.131, issue.11, pp.2832-2840, 2008. ,
DOI : 10.1093/brain/awn252
Decrease of 3243 A???G mtDNA Mutation from Blood in MELAS Syndrome: A Longitudinal Study, The American Journal of Human Genetics, vol.68, issue.1, pp.68-238, 2001. ,
DOI : 10.1086/316930
Progressive Increase of the Mutated Mitochondrial DNA Fraction in Kearns-Sayre Syndrome, Pediatric Research, vol.28, issue.2, pp.28-131, 1990. ,
DOI : 10.1203/00006450-199008000-00011
A new mtDNA mutation showing accumulation with time and restriction to skeletal muscle, Am. J ,
A pattern of accumulation of a somatic deletion of mitochondrial DNA in aging human tissues., Proceedings of the National Academy of Sciences, vol.89, issue.16, pp.7370-7374, 1992. ,
DOI : 10.1073/pnas.89.16.7370
Ageing muscle: clonal expansions of mitochondrial DNA point mutations and deletions cause focal impairment of mitochondrial function, Neuromuscul. Disord, vol.12, pp.484-493, 2002. ,
Mitochondrial DNA mutations are established in human colonic stem cells, and mutated clones expand by crypt fission, Proc. Natl Acad. Sci. U S A, vol.103, pp.714-719, 2006. ,
High levels of mitochondrial DNA deletions in substantia nigra neurons in aging and Parkinson disease, Nat. Genet, pp.38-515, 2006. ,
Modulating heteroplasmy, Trends in Genetics, vol.18, issue.4, pp.173-176, 2002. ,
DOI : 10.1016/S0168-9525(01)02636-1
Widespread tissue distribution of mitochondrial DNA deletions in Kearns-Sayre syndrome, Neurology, vol.40, pp.24-28, 1990. ,
Varying loads of the mitochondrial DNA A3243G mutation in different tissues: implications for diagnosis, Am. J. Med. Genet. A, vol.130, pp.134-137, 2004. ,
Random genetic drift in the female germline explains the rapid segregation of mammalian mitochondrial DNA, Nature Genetics, vol.45, issue.2, pp.14-146, 1996. ,
DOI : 10.1016/0092-8674(90)90345-F
Tissue-specific selection for different mtDNA genotypes in heteroplasmic mice, Nature Genetics, vol.2, issue.1, pp.93-95, 1997. ,
DOI : 10.1016/0092-8674(90)90345-F
Nuclear genetic control of mitochondrial DNA segregation, Nature Genetics, vol.33, issue.2, pp.183-186, 2003. ,
DOI : 10.1038/ng1073
Gimap3 Regulates Tissue-Specific Mitochondrial DNA Segregation, PLoS Genetics, vol.94, issue.Pt 10, p.1001161, 2010. ,
DOI : 10.1371/journal.pgen.1001161.t001
URL : http://doi.org/10.1371/journal.pgen.1001161
Nucleotide sequence evidence for rapid genotypic shifts in the bovine mitochondrial DNA D-loop, Nature, vol.77, issue.5941, pp.400-402, 1983. ,
DOI : 10.1016/S0076-6879(80)65059-9
Segregation of mtDNA throughout human embryofetal development: m.3243A>G as a model system, Hum. Mutat, vol.32, pp.116-125, 2011. ,
URL : https://hal.archives-ouvertes.fr/hal-00602304
Skewed Segregation of the mtDNA nt 8993 (TrG) Mutation in Human Oocytes, The American Journal of Human Genetics, vol.60, issue.6, pp.60-1495, 1997. ,
DOI : 10.1086/515453
The mitochondrial DNA genetic bottleneck results from replication of a subpopulation of genomes, Nature Genetics, vol.59, issue.12, pp.1484-1488, 2008. ,
DOI : 10.1038/ng1073
A reduction of mitochondrial DNA molecules during embryogenesis explains the rapid segregation of genotypes, Nat. Genet, vol.40, pp.249-254, 2008. ,
Purifying selection of mtDNA and its implications for understanding evolution and mitochondrial disease, Nature Reviews Genetics, vol.319, issue.9, pp.657-662, 2008. ,
DOI : 10.1038/nrg2396
A mouse model of mitochondrial disease reveals germline selection against severe mtDNA mutations, Science, vol.319, pp.958-962, 2008. ,
Development and implementation of standardized respiratory chain spectrophotometric assays for clinical diagnosis, pp.331-339, 2009. ,
URL : https://hal.archives-ouvertes.fr/inserm-00516056