Heteroplasmy and Copy Number in the Common m.3243A>G Mutation—A Post-Mortem Genotype–Phenotype Analysis
暂无分享,去创建一个
[1] A. Pajak,et al. Modulation of mtDNA copy number ameliorates the pathological consequences of a heteroplasmic mtDNA mutation in the mouse , 2019, Science Advances.
[2] D. Mari,et al. Quantitative mitochondrial DNA copy number determination using droplet digital PCR with single-cell resolution , 2019, Genome Research.
[3] Robert W. Taylor,et al. mtDNA heteroplasmy level and copy number indicate disease burden in m.3243A>G mitochondrial disease , 2018, EMBO molecular medicine.
[4] Robert W. Taylor,et al. Phenotypic heterogeneity in m.3243A>G mitochondrial disease: The role of nuclear factors , 2018, Annals of clinical and translational neurology.
[5] Robert W. Taylor,et al. A novel m.7539C>T point mutation in the mt-tRNAAsp gene associated with multisystemic mitochondrial disease , 2015, Neuromuscular Disorders.
[6] Robert W. Taylor,et al. Accurate Measurement of Mitochondrial DNA Deletion Level and Copy Number Differences in Human Skeletal Muscle , 2014, PloS one.
[7] Vincent Procaccio,et al. Progressive increase in mtDNA 3243A>G heteroplasmy causes abrupt transcriptional reprogramming , 2014, Proceedings of the National Academy of Sciences.
[8] D. Ramsay,et al. MELAS: A Multigenerational Impact of the MTTL1 A3243G MELAS Mutation , 2014, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.
[9] F. Scaglia,et al. Mitochondrial DNA Depletion Syndromes: Review and Updates of Genetic Basis, Manifestations, and Therapeutic Options , 2013, Neurotherapeutics.
[10] S. Dimauro,et al. Human mitochondrial DNA: roles of inherited and somatic mutations , 2012, Nature Reviews Genetics.
[11] D. Wallace,et al. Energetics, epigenetics, mitochondrial genetics. , 2010, Mitochondrion.
[12] E. Shoubridge,et al. The mitochondrial DNA genetic bottleneck results from replication of a subpopulation of genomes , 2008, Nature Genetics.
[13] M. Tesařová,et al. The impact of mitochondrial tRNA mutations on the amount of ATP synthase differs in the brain compared to other tissues. , 2008, Biochimica et biophysica acta.
[14] H. Rajasimha,et al. Selection against pathogenic mtDNA mutations in a stem cell population leads to the loss of the 3243A-->G mutation in blood. , 2008, American journal of human genetics.
[15] K. Nihei,et al. The mutant mitochondrial genes in mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) were selectively amplified through generations , 1992, Journal of Inherited Metabolic Disease.
[16] K. Hayasaka,et al. Tissue distribution of mutant mitochondrial DNA in mitochondrial myopathy, encephalopathy, lactic acidosis and stroke-like episodes (MELAS) , 1993, Journal of Inherited Metabolic Disease.
[17] K. Gerbitz,et al. A specific point mutation in the mitochondrial genome of Caucasians with MELAS , 1991, Human Genetics.
[18] Jean-Pierre Mazat,et al. Mitochondrial threshold effects. , 2003, The Biochemical journal.
[19] S. Rahman,et al. Decrease of 3243 A-->G mtDNA mutation from blood in MELAS syndrome: a longitudinal study. , 2001, American journal of human genetics.
[20] Y. Koga,et al. Heterogeneous presentation in A3243G mutation in the mitochondrial tRNALeu(UUR) gene , 2000, Archives of disease in childhood.
[21] A. Federico,et al. Studies on mitochondrial pathogenesis of Rett syndrome: ultrastructural data from skin and muscle biopsies and mutational analysis at mtDNA nucleotides 10463 and 2835. , 1999, Journal of submicroscopic cytology and pathology.
[22] A. Quigley,et al. Detection of MELAS A3243G point mutation in muscle, blood and hair follicles , 1998, Journal of the Neurological Sciences.
[23] K. Majamaa,et al. Epidemiology of A3243G, the mutation for mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes: prevalence of the mutation in an adult population. , 1998, American journal of human genetics.
[24] P. Matthews,et al. Comparison of the relative levels of the 3243 (A-->G) mtDNA mutation in heteroplasmic adult and fetal tissues. , 1994, Journal of medical genetics.
[25] S. Ohta,et al. Content of mutant mitochondrial DNA and organ dysfunction in a patient with a MELAS subgroup of mitochondrial encephalomyopathies , 1993, Journal of the Neurological Sciences.
[26] E. Shoubridge,et al. Variable distribution of mutant mitochondria1 DNAs (tRNALeu[3243]) in tissues of symptomatic relatives with MELAS , 1993, Neurology.
[27] M. Koshiba,et al. Organ distribution of mutant mitochondrial tRNAleu(UUR) gene in a MELAS patient , 1993, Acta pathologica japonica.
[28] S. Dimauro,et al. Widespread tissue distribution of a tRNALeu(UUR) mutation in the mitochondrial DNA of a patient with MELAS syndrome , 1991, Neurology.
[29] K. Gerbitz,et al. Respiratory chain activity in tissues from patients (MELAS) with a point mutation of the mitochondrial genome [tRNALeu(UUR)] , 1991, FEBS letters.
[30] I. Nonaka,et al. A mutation in the tRNALeu(UUR) gene associated with the MELAS subgroup of mitochondrial encephalomyopathies , 1990, Nature.