Published in Am J Hum Genet on May 01, 2008
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mtDNA mutations increase tumorigenicity in prostate cancer. Proc Natl Acad Sci U S A (2005) 4.66
An enhanced MITOMAP with a global mtDNA mutational phylogeny. Nucleic Acids Res (2006) 4.51
A mouse model of mitochondrial disease reveals germline selection against severe mtDNA mutations. Science (2008) 3.95
A back migration from Asia to sub-Saharan Africa is supported by high-resolution analysis of human Y-chromosome haplotypes. Am J Hum Genet (2002) 3.71
Reconstructing Native American population history. Nature (2012) 3.49
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Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss. Nat Genet (2011) 3.16
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
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Evidence for adaptive selection acting on the tRNA and rRNA genes of human mitochondrial DNA. Hum Mutat (2006) 1.98
Life extension through neurofibromin mitochondrial regulation and antioxidant therapy for neurofibromatosis-1 in Drosophila melanogaster. Nat Genet (2007) 1.98
Elevated male European and female African contributions to the genomes of African American individuals. Hum Genet (2006) 1.97
Data structures and compression algorithms for genomic sequence data. Bioinformatics (2009) 1.96
The mitochondrial theory of aging and its relationship to reactive oxygen species damage and somatic mtDNA mutations. Proc Natl Acad Sci U S A (2005) 1.88
Succinate dehydrogenase is a direct target of sirtuin 3 deacetylase activity. PLoS One (2011) 1.73
Functional estrogen receptors in the mitochondria of breast cancer cells. Mol Biol Cell (2006) 1.72
The role of mtDNA background in disease expression: a new primary LHON mutation associated with Western Eurasian haplogroup J. Hum Genet (2002) 1.65
The dual origin and Siberian affinities of Native American Y chromosomes. Am J Hum Genet (2001) 1.65
Adenine nucleotide translocase 1 deficiency results in dilated cardiomyopathy with defects in myocardial mechanics, histopathological alterations, and activation of apoptosis. JACC Cardiovasc Imaging (2011) 1.60
Ancient mtDNA genetic variants modulate mtDNA transcription and replication. PLoS Genet (2009) 1.58
Control region mtDNA variants: longevity, climatic adaptation, and a forensic conundrum. Proc Natl Acad Sci U S A (2003) 1.57
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A mitochondrial etiology of Alzheimer and Parkinson disease. Biochim Biophys Acta (2011) 1.52
A novel NDUFA1 mutation leads to a progressive mitochondrial complex I-specific neurodegenerative disease. Mol Genet Metab (2009) 1.47
Mitochondrial DNA-like sequences in the nucleus (NUMTs): insights into our African origins and the mechanism of foreign DNA integration. Hum Mutat (2004) 1.39
Mitochondrial variants in schizophrenia, bipolar disorder, and major depressive disorder. PLoS One (2009) 1.36
Mouse mtDNA mutant model of Leber hereditary optic neuropathy. Proc Natl Acad Sci U S A (2012) 1.35
VCP associated inclusion body myopathy and paget disease of bone knock-in mouse model exhibits tissue pathology typical of human disease. PLoS One (2010) 1.34
Adaptive selection of mitochondrial complex I subunits during primate radiation. Gene (2006) 1.31
Landscape of the mitochondrial Hsp90 metabolome in tumours. Nat Commun (2013) 1.29
Mitochondrial DNA haplogroups influence AIDS progression. AIDS (2008) 1.29
Analysis of mitochondrial DNA diversity in the aleuts of the commander islands and its implications for the genetic history of beringia. Am J Hum Genet (2002) 1.29
Traces of early Eurasians in the Mansi of northwest Siberia revealed by mitochondrial DNA analysis. Am J Hum Genet (2002) 1.27
Mitochondrial DNA haplogroups associated with age-related macular degeneration. Invest Ophthalmol Vis Sci (2009) 1.26
Mitochondrial DNA haplogroups influence lipoatrophy after highly active antiretroviral therapy. J Acquir Immune Defic Syndr (2009) 1.24
The molecular mechanisms of OPA1-mediated optic atrophy in Drosophila model and prospects for antioxidant treatment. PLoS Genet (2008) 1.24
Valosin containing protein associated inclusion body myopathy: abnormal vacuolization, autophagy and cell fusion in myoblasts. Neuromuscul Disord (2009) 1.23
A mitochondrial etiology of neurodegenerative diseases: evidence from Parkinson's disease. Ann N Y Acad Sci (2008) 1.22
Differences of sperm motility in mitochondrial DNA haplogroup U sublineages. Gene (2005) 1.21
Mitochondrial DNA variant associated with Leber hereditary optic neuropathy and high-altitude Tibetans. Proc Natl Acad Sci U S A (2012) 1.21
Systemic mitochondrial dysfunction and the etiology of Alzheimer's disease and down syndrome dementia. J Alzheimers Dis (2010) 1.19
Mitochondrial cardiomyopathies: how to identify candidate pathogenic mutations by mitochondrial DNA sequencing, MITOMASTER and phylogeny. Eur J Hum Genet (2010) 1.15
Association of mitochondrial SOD deficiency with salt-sensitive hypertension and accelerated renal senescence. J Appl Physiol (1985) (2006) 1.15
ARL2 and BART enter mitochondria and bind the adenine nucleotide transporter. Mol Biol Cell (2002) 1.11
MITOMASTER: a bioinformatics tool for the analysis of mitochondrial DNA sequences. Hum Mutat (2009) 1.10
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Heterozygous mutation of Opa1 in Drosophila shortens lifespan mediated through increased reactive oxygen species production. PLoS One (2009) 1.07
Accumulation of mitochondrial DNA damage in keratoconus corneas. Invest Ophthalmol Vis Sci (2005) 1.06
Mitochondrial disease genetic diagnostics: optimized whole-exome analysis for all MitoCarta nuclear genes and the mitochondrial genome. Discov Med (2012) 1.06
Association between mitochondrial DNA variations and Alzheimer's disease in the ADNI cohort. Neurobiol Aging (2010) 1.05
Late-onset Leigh syndrome in a patient with mitochondrial complex I NDUFS8 mutations. Neurology (2004) 0.99
Mitochondrial mutations and polymorphisms in psychiatric disorders. Front Genet (2012) 0.98
Severity of cardiomyopathy associated with adenine nucleotide translocator-1 deficiency correlates with mtDNA haplogroup. Proc Natl Acad Sci U S A (2013) 0.97
Mitochondrial DNA variants mediate energy production and expression levels for CFH, C3 and EFEMP1 genes: implications for age-related macular degeneration. PLoS One (2013) 0.96
Mitochondrial DNA diversity in Southeast Asian populations. Hum Biol (2002) 0.94
Adenine nucleotide translocator 1 deficiency increases resistance of mouse brain and neurons to excitotoxic insults. Biochim Biophys Acta (2009) 0.93
MITOCHIP assessment of differential gene expression in the skeletal muscle of Ant1 knockout mice: coordinate regulation of OXPHOS, antioxidant, and apoptotic genes. Biochim Biophys Acta (2008) 0.93
Reversible optic neuropathy with OPA1 exon 5b mutation. Ann Neurol (2008) 0.93
mtDNA lineage analysis of mouse L-cell lines reveals the accumulation of multiple mtDNA mutants and intermolecular recombination. Genes Dev (2012) 0.92
Mitochondrial dysfunction in CA1 hippocampal neurons of the UBE3A deficient mouse model for Angelman syndrome. Neurosci Lett (2009) 0.91
Assessment of mitochondrial membrane potential using an on-chip microelectrode in a microfluidic device. Lab Chip (2010) 0.89
Aggregation of actin and cofilin in identical twins with juvenile-onset dystonia. Ann Neurol (2002) 0.89
Molecular research technologies in mitochondrial diseases: the microarray approach. IUBMB Life (2005) 0.89
Metabolically induced heteroplasmy shifting and l-arginine treatment reduce the energetic defect in a neuronal-like model of MELAS. Biochim Biophys Acta (2012) 0.89
Eliminating the Ant1 isoform produces a mouse with CPEO pathology but normal ocular motility. Invest Ophthalmol Vis Sci (2005) 0.87
Increased adenine nucleotide translocator 1 in reactive astrocytes facilitates glutamate transport. Exp Neurol (2003) 0.87
Multiplex analysis of mitochondrial DNA pathogenic and polymorphic sequence variants. Biol Chem (2010) 0.86
Characterization of retinal and blood mitochondrial DNA from age-related macular degeneration patients. Invest Ophthalmol Vis Sci (2010) 0.86
Origin and affinities of indigenous Siberian populations as revealed by HLA class II gene frequencies. Hum Genet (2002) 0.84
Genetic analysis of dTSPO, an outer mitochondrial membrane protein, reveals its functions in apoptosis, longevity, and Ab42-induced neurodegeneration. Aging Cell (2014) 0.84
Impaired translocation and activation of mitochondrial Akt1 mitigated mitochondrial oxidative phosphorylation Complex V activity in diabetic myocardium. J Mol Cell Cardiol (2013) 0.84
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Hydrogen peroxide causes mitochondrial DNA damage in corneal epithelial cells. Cornea (2009) 0.83
Mitochondrial and ion channel gene alterations in autism. Biochim Biophys Acta (2012) 0.83
Mitochondrial genome diversity in the Tubalar, Even, and Ulchi: contribution to prehistory of native Siberians and their affinities to Native Americans. Am J Phys Anthropol (2012) 0.83
Mitochondrial haplogroups are associated with risk of neuroretinal disorder in HIV-positive patients. J Acquir Immune Defic Syndr (2010) 0.83
An inherited heteroplasmic mutation in mitochondrial gene COI in a patient with prostate cancer alters reactive oxygen, reactive nitrogen and proliferation. Biomed Res Int (2012) 0.82
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Heteroplasmic mutations of the mitochondrial genome cause paradoxical effects on mitochondrial functions. FASEB J (2012) 0.80
Toward a mtDNA locus-specific mutation database using the LOVD platform. Hum Mutat (2012) 0.80
Wafer-scale mitochondrial membrane potential assays. Lab Chip (2012) 0.80
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Detection of low levels of the mitochondrial tRNALeu(UUR) 3243A>G mutation in blood derived from patients with diabetes. Mol Diagn Ther (2006) 0.79
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