Published in Nucleic Acids Res on November 01, 2000
A mitochondrial paradigm of metabolic and degenerative diseases, aging, and cancer: a dawn for evolutionary medicine. Annu Rev Genet (2005) 16.79
Mitochondrial DNA mutations in human colonic crypt stem cells. J Clin Invest (2003) 3.84
Alzheimer's brains harbor somatic mtDNA control-region mutations that suppress mitochondrial transcription and replication. Proc Natl Acad Sci U S A (2004) 2.77
The determination of complete human mitochondrial DNA sequences in single cells: implications for the study of somatic mitochondrial DNA point mutations. Nucleic Acids Res (2001) 2.17
Muscle-specific mutations accumulate with aging in critical human mtDNA control sites for replication. Proc Natl Acad Sci U S A (2001) 1.94
Mitochondria-ros crosstalk in the control of cell death and aging. J Signal Transduct (2011) 1.89
The pathophysiology of mitochondrial disease as modeled in the mouse. Genes Dev (2009) 1.87
MicroRNA-338 regulates local cytochrome c oxidase IV mRNA levels and oxidative phosphorylation in the axons of sympathetic neurons. J Neurosci (2008) 1.78
Recurrent tissue-specific mtDNA mutations are common in humans. PLoS Genet (2013) 1.77
Control region mtDNA variants: longevity, climatic adaptation, and a forensic conundrum. Proc Natl Acad Sci U S A (2003) 1.57
A mitochondrial etiology of Alzheimer and Parkinson disease. Biochim Biophys Acta (2011) 1.52
The paternal-age effect in Apert syndrome is due, in part, to the increased frequency of mutations in sperm. Am J Hum Genet (2003) 1.37
A mitochondrial bioenergetic etiology of disease. J Clin Invest (2013) 1.27
Bioenergetic origins of complexity and disease. Cold Spring Harb Symp Quant Biol (2011) 1.19
Systemic mitochondrial dysfunction and the etiology of Alzheimer's disease and down syndrome dementia. J Alzheimers Dis (2010) 1.19
Mutant enrichment with 3'-modified oligonucleotides a practical PCR method for detecting trace mutant DNAs. J Mol Diagn (2011) 1.12
Mitochondrial DNA as a cancer biomarker. J Mol Diagn (2005) 1.11
The ageing mitochondrial genome. Nucleic Acids Res (2007) 1.11
MITOMASTER: a bioinformatics tool for the analysis of mitochondrial DNA sequences. Hum Mutat (2009) 1.10
Somatic mtDNA mutation spectra in the aging human putamen. PLoS Genet (2013) 1.04
Performance of mitochondrial DNA mutations detecting early stage cancer. BMC Cancer (2008) 1.02
Relationship between human aging muscle and oxidative system pathway. Oxid Med Cell Longev (2012) 0.92
Mitochondrial-nuclear epistasis: implications for human aging and longevity. Ageing Res Rev (2010) 0.89
Somatic mitochondrial DNA deletions accumulate to high levels in aging human extraocular muscles. Invest Ophthalmol Vis Sci (2010) 0.88
Mechanisms linking mtDNA damage and aging. Free Radic Biol Med (2015) 0.88
Mitophagy plays a central role in mitochondrial ageing. Mamm Genome (2016) 0.77
Detection of age-related duplications in mtDNA from human muscles and bones. Int J Legal Med (2010) 0.75
Detection of the A189G mtDNA heteroplasmic mutation in relation to age in modern and ancient bones. Int J Legal Med (2008) 0.75
Mitochondrial diseases in man and mouse. Science (1999) 11.67
PNA hybridizes to complementary oligonucleotides obeying the Watson-Crick hydrogen-bonding rules. Nature (1993) 8.83
Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation. Cell (1990) 6.80
Aging-dependent large accumulation of point mutations in the human mtDNA control region for replication. Science (1999) 5.20
Facile detection of mitochondrial DNA mutations in tumors and bodily fluids. Science (2000) 4.87
Somatic mutations of the mitochondrial genome in human colorectal tumours. Nat Genet (1998) 4.67
Mitochondrial DNA deletions in human brain: regional variability and increase with advanced age. Nat Genet (1992) 3.53
Detection of a specific mitochondrial DNA deletion in tissues of older humans. Nucleic Acids Res (1990) 3.13
A pattern of accumulation of a somatic deletion of mitochondrial DNA in aging human tissues. Proc Natl Acad Sci U S A (1992) 2.83
Mitochondrial disease in mouse results in increased oxidative stress. Proc Natl Acad Sci U S A (1999) 2.58
Hypoxemia is associated with mitochondrial DNA damage and gene induction. Implications for cardiac disease. JAMA (1991) 2.31
Single base pair mutation analysis by PNA directed PCR clamping. Nucleic Acids Res (1993) 2.20
Mosaicism for a specific somatic mitochondrial DNA mutation in adult human brain. Nat Genet (1992) 2.16
Association of mitochondrial DNA damage with aging and coronary atherosclerotic heart disease. Mutat Res (1992) 1.97
Nucleotide sequence preservation of human mitochondrial DNA. Proc Natl Acad Sci U S A (1985) 1.88
Marked increase in the number and variety of mitochondrial DNA rearrangements in aging human skeletal muscle. Nucleic Acids Res (1995) 1.84
Novel mitochondrial DNA deletion found in a renal cell carcinoma. Genes Chromosomes Cancer (1996) 1.81
Transcription and replication of animal mitochondrial DNAs. Int Rev Cytol (1992) 1.58
Mitochondrial defects in cardiomyopathy and neuromuscular disease. Am Heart J (2000) 1.44
Human brain contains high levels of heteroplasmy in the noncoding regions of mitochondrial DNA. Proc Natl Acad Sci U S A (1996) 1.38
Studies of sequence heterogeneity of mitochondrial DNA from rat and mouse tissues: evidence for an increased frequency of deletions/additions with aging. Mech Ageing Dev (1988) 1.33
Mitochondrial gene mutation, but not large-scale deletion, is a feature of colorectal carcinomas with mitochondrial microsatellite instability. Int J Cancer (1999) 1.29
Multiple mitochondrial DNA deletions in an elderly human individual. FEBS Lett (1992) 1.26
The frequency of heteroplasmy in the HVII region of mtDNA differs across tissue types and increases with age. Am J Hum Genet (2000) 1.24
Mitochondrial gene mutation: the ageing process and degenerative diseases. Biochem Int (1990) 1.19
Mutations in mitochondrial DNA accumulate differentially in three different human tissues during ageing. Nucleic Acids Res (1998) 1.17
Cloning of neuronal mtDNA variants in cultured cells by synaptosome fusion with mtDNA-less cells. Nucleic Acids Res (2000) 1.14
The point mutation of mitochondrial DNA characteristic for MERRF disease is found also in healthy people of different ages. FEBS Lett (1993) 1.13
Marked increase in mitochondrial DNA deletion levels in the cerebral cortex of Huntington's disease patients. Neurology (1995) 1.09
Human aging is associated with various point mutations in tRNA genes of mitochondrial DNA. Biol Chem Hoppe Seyler (1993) 1.04
Mitochondrial DNA rearrangements in aging human brain and in situ PCR of mtDNA. Neurobiol Aging (2000) 1.04
Evidence that specific mtDNA point mutations may not accumulate in skeletal muscle during normal human aging. Am J Hum Genet (1996) 1.02
Occurrence of a particular base substitution (3243 A to G) in mitochondrial DNA of tissues of ageing humans. Biochem Biophys Res Commun (1993) 1.01
Nucleotide sequence preservation of human leukemic mitochondrial DNA. Cancer Res (1985) 0.83
Maternal inheritance of human mitochondrial DNA. Proc Natl Acad Sci U S A (1980) 9.48
Dilated cardiomyopathy and neonatal lethality in mutant mice lacking manganese superoxide dismutase. Nat Genet (1995) 7.17
Asian affinities and continental radiation of the four founding Native American mtDNAs. Am J Hum Genet (1993) 6.81
Radiation of human mitochondria DNA types analyzed by restriction endonuclease cleavage patterns. J Mol Evol (1983) 6.80
Myoclonic epilepsy and ragged-red fiber disease (MERRF) is associated with a mitochondrial DNA tRNA(Lys) mutation. Cell (1990) 6.80
Classification of European mtDNAs from an analysis of three European populations. Genetics (1996) 6.28
Assessment of mitochondrial oxidative phosphorylation in patient muscle biopsies, lymphoblasts, and transmitochondrial cell lines. Methods Enzymol (1996) 5.40
Amerindian mitochondrial DNAs have rare Asian mutations at high frequencies, suggesting they derived from four primary maternal lineages. Am J Hum Genet (1990) 5.17
Dramatic founder effects in Amerindian mitochondrial DNAs. Am J Phys Anthropol (1985) 4.56
mtDNA and the origin of Caucasians: identification of ancient Caucasian-specific haplogroups, one of which is prone to a recurrent somatic duplication in the D-loop region. Am J Hum Genet (1994) 4.47
mtDNA variation of aboriginal Siberians reveals distinct genetic affinities with Native Americans. Am J Hum Genet (1993) 4.46
Analysis of mtDNA variation in African populations reveals the most ancient of all human continent-specific haplogroups. Am J Hum Genet (1995) 4.30
Southeast Asian mitochondrial DNA analysis reveals genetic continuity of ancient mongoloid migrations. Genetics (1992) 4.12
Mitochondrial mutations in cancer. Oncogene (2006) 3.86
Ethnic variation in Hpa 1 endonuclease cleavage patterns of human mitochondrial DNA. Proc Natl Acad Sci U S A (1981) 3.71
Mitochondrial DNA deletions in human brain: regional variability and increase with advanced age. Nat Genet (1992) 3.53
Extension of life-span with superoxide dismutase/catalase mimetics. Science (2000) 3.41
A novel neurological phenotype in mice lacking mitochondrial manganese superoxide dismutase. Nat Genet (1998) 3.41
Mitochondrial DNA analysis in Tibet: implications for the origin of the Tibetan population and its adaptation to high altitude. Am J Phys Anthropol (1994) 3.40
A mouse model for mitochondrial myopathy and cardiomyopathy resulting from a deficiency in the heart/muscle isoform of the adenine nucleotide translocator. Nat Genet (1997) 3.26
Human mitochondrial DNA types in two Israeli populations--a comparative study at the DNA level. Am J Hum Genet (1986) 3.17
Mitochondrial DNA complex I and III mutations associated with Leber's hereditary optic neuropathy. Genetics (1992) 2.94
Genome size and evolution. Chromosoma (1973) 2.93
Mitochondrial disease in superoxide dismutase 2 mutant mice. Proc Natl Acad Sci U S A (1999) 2.91
Mitochondrial DNA "clock" for the Amerinds and its implications for timing their entry into North America. Proc Natl Acad Sci U S A (1994) 2.86
Genetic studies on the Tharu population of Nepal: restriction endonuclease polymorphisms of mitochondrial DNA. Am J Hum Genet (1986) 2.80
The structure of human mitochondrial DNA variation. J Mol Evol (1991) 2.78
mtDNA and Y-chromosome polymorphisms in four Native American populations from southern Mexico. Am J Hum Genet (1994) 2.68
Increased mitochondrial oxidative stress in the Sod2 (+/-) mouse results in the age-related decline of mitochondrial function culminating in increased apoptosis. Proc Natl Acad Sci U S A (2001) 2.63
Spontaneous Kearns-Sayre/chronic external ophthalmoplegia plus syndrome associated with a mitochondrial DNA deletion: a slip-replication model and metabolic therapy. Proc Natl Acad Sci U S A (1989) 2.63
Mitochondrial disease in mouse results in increased oxidative stress. Proc Natl Acad Sci U S A (1999) 2.58
The clinical characteristics of pedigrees of Leber's hereditary optic neuropathy with the 11778 mutation. Am J Ophthalmol (1991) 2.57
Oxidative damage to mitochondrial DNA shows marked age-dependent increases in human brain. Ann Neurol (1993) 2.56
Mitochondrial DNA variation in Koryaks and Itel'men: population replacement in the Okhotsk Sea-Bering Sea region during the Neolithic. Am J Phys Anthropol (1999) 2.43
mtDNA variation in the South African Kung and Khwe-and their genetic relationships to other African populations. Am J Hum Genet (2000) 2.35
Hypoxemia is associated with mitochondrial DNA damage and gene induction. Implications for cardiac disease. JAMA (1991) 2.31
Clustering of Caucasian Leber hereditary optic neuropathy patients containing the 11778 or 14484 mutations on an mtDNA lineage. Am J Hum Genet (1997) 2.21
mtDNA haplogroup X: An ancient link between Europe/Western Asia and North America? Am J Hum Genet (1998) 2.16
Maternally transmitted diabetes and deafness associated with a 10.4 kb mitochondrial DNA deletion. Nat Genet (1992) 2.15
Amino acid change associated with the major polymorphic Hinc II site of Oriental and Caucasian mitochondrial DNAs. Am J Hum Genet (1983) 2.13
Structure and evolution of organelle genomes. Microbiol Rev (1982) 2.11
Differential expression of adenine nucleotide translocator isoforms in mammalian tissues and during muscle cell differentiation. J Biol Chem (1992) 2.08
Cytoplasmic inheritance of chloramphenicol resistance in mouse tissue culture cells. Proc Natl Acad Sci U S A (1974) 2.08
A mitochondrial DNA mutation at nucleotide pair 14459 of the NADH dehydrogenase subunit 6 gene associated with maternally inherited Leber hereditary optic neuropathy and dystonia. Proc Natl Acad Sci U S A (1994) 2.07
Mitochondrial oxidative phosphorylation defects in Parkinson's disease. Ann Neurol (1991) 2.06
Mitochondrial DNA variation in human populations and implications for detection of mitochondrial DNA mutations of pathological significance. J Bioenerg Biomembr (1994) 2.03
Mitochondrial DNA of chloramphenicol-resistant mouse cells contains a single nucleotide change in the region encoding the 3' end of the large ribosomal RNA. Proc Natl Acad Sci U S A (1981) 2.03
Coordinate induction of energy gene expression in tissues of mitochondrial disease patients. J Biol Chem (1999) 2.02
Variable genotype of Leber's hereditary optic neuropathy patients. Am J Ophthalmol (1990) 2.00
Association of mitochondrial DNA damage with aging and coronary atherosclerotic heart disease. Mutat Res (1992) 1.97
Maternally inherited mitochondrial myopathy and myoclonic epilepsy. Ann Neurol (1985) 1.94
A mitochondrial DNA mutation as a cause of Leber's hereditary optic neuropathy. N Engl J Med (1989) 1.91
mtDNA diversity in Chukchi and Siberian Eskimos: implications for the genetic history of Ancient Beringia and the peopling of the New World. Am J Hum Genet (1998) 1.91
A new manifestation of Leber's disease and a new explanation for the agency responsible for its unusual pattern of inheritance. Brain (1970) 1.91
Characterization of mitochondrial DNA in chloramphenicol-resistant interspecific hybrids and a cybrid. Somatic Cell Genet (1980) 1.88
Lifespan extension and rescue of spongiform encephalopathy in superoxide dismutase 2 nullizygous mice treated with superoxide dismutase-catalase mimetics. J Neurosci (2001) 1.86
Marked increase in the number and variety of mitochondrial DNA rearrangements in aging human skeletal muscle. Nucleic Acids Res (1995) 1.84
Novel mitochondrial DNA deletion found in a renal cell carcinoma. Genes Chromosomes Cancer (1996) 1.81
Mitochondrial DNA mutations and neuromuscular disease. Trends Genet (1989) 1.81
Combined use of biallelic and microsatellite Y-chromosome polymorphisms to infer affinities among African populations. Am J Hum Genet (1999) 1.81
Phylogenetic analysis of Leber's hereditary optic neuropathy mitochondrial DNA's indicates multiple independent occurrences of the common mutations. Hum Mutat (1995) 1.80
Mitochondrial DNA sequence diversity in bipolar affective disorder. Am J Psychiatry (2000) 1.77
Use of transmitochondrial cybrids to assign a complex I defect to the mitochondrial DNA-encoded NADH dehydrogenase subunit 6 gene mutation at nucleotide pair 14459 that causes Leber hereditary optic neuropathy and dystonia. Mol Cell Biol (1996) 1.76
Nonviability of cells with oxidative defects in galactose medium: a screening test for affected patient fibroblasts. Biochem Med Metab Biol (1992) 1.75
MITOMAP: a human mitochondrial genome database. Nucleic Acids Res (1996) 1.75
Dietary change through African American churches: baseline results and program description of the eat for life trial. J Cancer Educ (2000) 1.73
Mitochondrial DNA polymorphisms in Italy. I. Population data from Sardinia and Rome. Ann Hum Genet (1986) 1.73
Different nucleotide changes in the large rRNA gene of the mitochondrial DNA confer chloramphenicol resistance on two human cell lines. Nucleic Acids Res (1981) 1.72
MITOMAP: a human mitochondrial genome database--1998 update. Nucleic Acids Res (1998) 1.65
cDNA sequence of a human skeletal muscle ADP/ATP translocator: lack of a leader peptide, divergence from a fibroblast translocator cDNA, and coevolution with mitochondrial DNA genes. Proc Natl Acad Sci U S A (1987) 1.64
Leber's hereditary optic neuropathy: a model for mitochondrial neurodegenerative diseases. FASEB J (1992) 1.62
Cytoplasmic transfer of chloramphenicol resistance in human tissue culture cells. J Cell Biol (1975) 1.62
Mitochondrial DNA polymorphisms in Italy. II. Molecular analysis of new and rare morphs from Sardinia and Rome. Ann Hum Genet (1988) 1.60
Evidence in a lethal infantile mitochondrial disease for a nuclear mutation affecting respiratory complexes I and IV. Neurology (1989) 1.57
Cytoplasmic transfer of the mtDNA nt 8993 T-->G (ATP6) point mutation associated with Leigh syndrome into mtDNA-less cells demonstrates cosegregation with a decrease in state III respiration and ADP/O ratio. Proc Natl Acad Sci U S A (1994) 1.57
Functional analysis of lymphoblast and cybrid mitochondria containing the 3460, 11778, or 14484 Leber's hereditary optic neuropathy mitochondrial DNA mutation. J Biol Chem (2000) 1.56
Maternal germ-line transmission of mutant mtDNAs from embryonic stem cell-derived chimeric mice. Proc Natl Acad Sci U S A (2000) 1.54
Y chromosome polymorphisms in native American and Siberian populations: identification of native American Y chromosome haplotypes. Hum Genet (1997) 1.52
Marked changes in mitochondrial DNA deletion levels in Alzheimer brains. Genomics (1994) 1.52
Expression and sequence analysis of the mouse adenine nucleotide translocase 1 and 2 genes. Gene (2000) 1.51
Heparinless partial cardiopulmonary bypass for the repair of aortic trauma. J Thorac Cardiovasc Surg (2000) 1.48
Mitochondrial oxidative stress in mice lacking the glutathione peroxidase-1 gene. Free Radic Biol Med (2000) 1.47
Production of transmitochondrial mouse cell lines by cybrid rescue of rhodamine-6G pre-treated L-cells. Somat Cell Mol Genet (1996) 1.41
Oxidative phosphorylation diseases. Disorders of two genomes. Adv Hum Genet (1990) 1.38
Mitochondrial diabetes revisited. Nat Genet (1994) 1.33
Maternal inheritance of mitochondrial DNA polymorphisms in cultured human fibroblasts. Somatic Cell Genet (1981) 1.33
Assignment of two mitochondrially synthesized polypeptides to human mitochondrial DNA and their use in the study of intracellular mitochondrial interaction. Mol Cell Biol (1982) 1.33
A mitochondrial DNA variant, identified in Leber hereditary optic neuropathy patients, which extends the amino acid sequence of cytochrome c oxidase subunit I. Am J Hum Genet (1992) 1.32
Radicals r'aging. Nat Genet (1998) 1.31
Visual recovery in patients with Leber's hereditary optic neuropathy and the 11778 mutation. J Clin Neuroophthalmol (1992) 1.30
Conformational mutations in human mitochondrial DNA. Nature (1987) 1.29
Evaluation of procedures for assaying oxidative phosphorylation enzyme activities in mitochondrial myopathy muscle biopsies. Biochim Biophys Acta (1990) 1.26
Leber's disease and dystonia: a mitochondrial disease. Neurology (1986) 1.25
Mitotic segregation of mitochondrial DNAs in human cell hybrids and expression of chloramphenicol resistance. Somat Cell Mol Genet (1986) 1.23
Multi-organ characterization of mitochondrial genomic rearrangements in ad libitum and caloric restricted mice show striking somatic mitochondrial DNA rearrangements with age. Nucleic Acids Res (1997) 1.20
Novel mtDNA mutations and oxidative phosphorylation dysfunction in Russian LHON families. Hum Genet (2001) 1.19
MITOMAP: an update on the status of the human mitochondrial genome database. Nucleic Acids Res (1997) 1.17
A human muscle adenine nucleotide translocator gene has four exons, is located on chromosome 4, and is differentially expressed. J Biol Chem (1989) 1.16
Coordinate reciprocal trends in glycolytic and mitochondrial transcript accumulations during the in vitro differentiation of human myoblasts. J Cell Physiol (1990) 1.16
Mitochondrial DNA sequence analysis of four Alzheimer's and Parkinson's disease patients. Am J Med Genet (1996) 1.16