Published in Biochim Biophys Acta on October 09, 2002
Mitochondrial DNA deletions inhibit proteasomal activity and stimulate an autophagic transcript. Free Radic Biol Med (2006) 1.73
Recent mitochondrial DNA mutations increase the risk of developing common late-onset human diseases. PLoS Genet (2014) 1.64
Oestrogens ameliorate mitochondrial dysfunction in Leber's hereditary optic neuropathy. Brain (2010) 1.52
The background of mitochondrial DNA haplogroup J increases the sensitivity of Leber's hereditary optic neuropathy cells to 2,5-hexanedione toxicity. PLoS One (2009) 1.08
Leber's Hereditary Optic Neuropathy-Gene Therapy: From Benchtop to Bedside. J Ophthalmol (2010) 0.96
Functional differences between mitochondrial haplogroup T and haplogroup H in HEK293 cybrid cells. PLoS One (2012) 0.95
The isolated carboxy-terminal domain of human mitochondrial leucyl-tRNA synthetase rescues the pathological phenotype of mitochondrial tRNA mutations in human cells. EMBO Mol Med (2014) 0.91
Mitochondrial-nuclear epistasis: implications for human aging and longevity. Ageing Res Rev (2010) 0.89
Mitochondrial DNA variants can mediate methylation status of inflammation, angiogenesis and signaling genes. Hum Mol Genet (2015) 0.85
Leber hereditary optic neuropathy and oxidative stress. Proc Natl Acad Sci U S A (2012) 0.79
Ancient Out-of-Africa Mitochondrial DNA Variants Associate with Distinct Mitochondrial Gene Expression Patterns. PLoS Genet (2016) 0.76
Short peptides from leucyl-tRNA synthetase rescue disease-causing mitochondrial tRNA point mutations. Hum Mol Genet (2015) 0.75
Single, rapid coastal settlement of Asia revealed by analysis of complete mitochondrial genomes. Science (2005) 6.86
The role of selection in the evolution of human mitochondrial genomes. Genetics (2005) 4.56
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
The molecular dissection of mtDNA haplogroup H confirms that the Franco-Cantabrian glacial refuge was a major source for the European gene pool. Am J Hum Genet (2004) 3.51
A "Copernican" reassessment of the human mitochondrial DNA tree from its root. Am J Hum Genet (2012) 3.31
Homotypic fusion of ER membranes requires the dynamin-like GTPase atlastin. Nature (2009) 3.31
Origin, diffusion, and differentiation of Y-chromosome haplogroups E and J: inferences on the neolithization of Europe and later migratory events in the Mediterranean area. Am J Hum Genet (2004) 3.28
Where west meets east: the complex mtDNA landscape of the southwest and Central Asian corridor. Am J Hum Genet (2004) 3.05
The mtDNA legacy of the Levantine early Upper Palaeolithic in Africa. Science (2006) 2.98
Updating the East Asian mtDNA phylogeny: a prerequisite for the identification of pathogenic mutations. Hum Mol Genet (2006) 2.89
Distinctive Paleo-Indian migration routes from Beringia marked by two rare mtDNA haplogroups. Curr Biol (2009) 2.78
The archaeogenetics of Europe. Curr Biol (2010) 2.71
The African diaspora: mitochondrial DNA and the Atlantic slave trade. Am J Hum Genet (2004) 2.63
Clinical expression of Leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background. Am J Hum Genet (2007) 2.40
Most of the extant mtDNA boundaries in south and southwest Asia were likely shaped during the initial settlement of Eurasia by anatomically modern humans. BMC Genet (2004) 2.37
Biased incorporation of ribonucleotides on the mitochondrial L-strand accounts for apparent strand-asymmetric DNA replication. Cell (2002) 2.32
Phylogeography of Y-chromosome haplogroup I reveals distinct domains of prehistoric gene flow in europe. Am J Hum Genet (2004) 2.32
The matrilineal ancestry of Ashkenazi Jewry: portrait of a recent founder event. Am J Hum Genet (2006) 2.18
Severe impairment of complex I-driven adenosine triphosphate synthesis in leber hereditary optic neuropathy cybrids. Arch Neurol (2005) 2.17
Mitochondrial genomes of extinct aurochs survive in domestic cattle. Curr Biol (2008) 2.14
Rescue of a mitochondrial deficiency causing Leber Hereditary Optic Neuropathy. Ann Neurol (2002) 2.13
Haplogroup effects and recombination of mitochondrial DNA: novel clues from the analysis of Leber hereditary optic neuropathy pedigrees. Am J Hum Genet (2006) 1.95
Founding mothers of Jewish communities: geographically separated Jewish groups were independently founded by very few female ancestors. Am J Hum Genet (2002) 1.89
The phylogeny of the four pan-American MtDNA haplogroups: implications for evolutionary and disease studies. PLoS One (2008) 1.87
Saami and Berbers--an unexpected mitochondrial DNA link. Am J Hum Genet (2005) 1.85
Phylogeographic analysis of haplogroup E3b (E-M215) y chromosomes reveals multiple migratory events within and out of Africa. Am J Hum Genet (2004) 1.76
In search of geographical patterns in European mitochondrial DNA. Am J Hum Genet (2002) 1.76
Mitochondrial DNA haplogroup K is associated with a lower risk of Parkinson's disease in Italians. Eur J Hum Genet (2005) 1.71
Y-chromosomal evidence of the cultural diffusion of agriculture in Southeast Europe. Eur J Hum Genet (2008) 1.70
Complex I deficiency primes Bax-dependent neuronal apoptosis through mitochondrial oxidative damage. Proc Natl Acad Sci U S A (2005) 1.68
The multifaceted origin of taurine cattle reflected by the mitochondrial genome. PLoS One (2009) 1.58
The mitochondrial fission protein hFis1 requires the endoplasmic reticulum gateway to induce apoptosis. Mol Biol Cell (2006) 1.58
The mystery of Etruscan origins: novel clues from Bos taurus mitochondrial DNA. Proc Biol Sci (2007) 1.57
Origin and diffusion of mtDNA haplogroup X. Am J Hum Genet (2003) 1.57
Mitochondrial DNA background modulates the assembly kinetics of OXPHOS complexes in a cellular model of mitochondrial disease. Hum Mol Genet (2008) 1.56
Mitochondrial genomes from modern horses reveal the major haplogroups that underwent domestication. Proc Natl Acad Sci U S A (2012) 1.55
Cholestenoic acids regulate motor neuron survival via liver X receptors. J Clin Invest (2014) 1.55
Mitochondrial DNA diversity in indigenous populations of the southern extent of Siberia, and the origins of Native American haplogroups. Ann Hum Genet (2005) 1.54
Oestrogens ameliorate mitochondrial dysfunction in Leber's hereditary optic neuropathy. Brain (2010) 1.52
The initial peopling of the Americas: a growing number of founding mitochondrial genomes from Beringia. Genome Res (2010) 1.50
Mitochondrial DNA signals of late glacial recolonization of Europe from near eastern refugia. Am J Hum Genet (2012) 1.49
Extensive female-mediated gene flow from sub-Saharan Africa into near eastern Arab populations. Am J Hum Genet (2003) 1.46
Disease-related phenotypes in a Drosophila model of hereditary spastic paraplegia are ameliorated by treatment with vinblastine. J Clin Invest (2005) 1.39
Defective oxidative phosphorylation in thyroid oncocytic carcinoma is associated with pathogenic mitochondrial DNA mutations affecting complexes I and III. Cancer Res (2006) 1.39
Mitochondrial haplogroup U5b3: a distant echo of the epipaleolithic in Italy and the legacy of the early Sardinians. Am J Hum Genet (2009) 1.32
Human skeletal muscle atrophy in amyotrophic lateral sclerosis reveals a reduction in Akt and an increase in atrogin-1. FASEB J (2006) 1.31
Leber's hereditary optic neuropathy (LHON) pathogenic mutations induce mitochondrial-dependent apoptotic death in transmitochondrial cells incubated with galactose medium. J Biol Chem (2002) 1.30
Mitochondrial DNA variation of modern Tuscans supports the near eastern origin of Etruscans. Am J Hum Genet (2007) 1.28
Reconciling migration models to the Americas with the variation of North American native mitogenomes. Proc Natl Acad Sci U S A (2013) 1.23
Low "penetrance" of phylogenetic knowledge in mitochondrial disease studies. Biochem Biophys Res Commun (2005) 1.23
Inhibition of mitochondrial fission favours mutant over wild-type mitochondrial DNA. Hum Mol Genet (2009) 1.21
A novel deletion in the GTPase domain of OPA1 causes defects in mitochondrial morphology and distribution, but not in function. Hum Mol Genet (2008) 1.20
Spinal and bulbar muscular atrophy: skeletal muscle pathology in male patients and heterozygous females. J Neurol Sci (2007) 1.20
Mitochondrial and Y-chromosome diversity of the Tharus (Nepal): a reservoir of genetic variation. BMC Evol Biol (2009) 1.19
Mutations in CYP2U1, DDHD2 and GBA2 genes are rare causes of complicated forms of hereditary spastic paraparesis. J Neurol (2013) 1.16
Overexpression of microRNA-206 in the skeletal muscle from myotonic dystrophy type 1 patients. J Transl Med (2010) 1.13
Prevalence and correlates of mental disorders among adolescents in Italy: the PrISMA study. Eur Child Adolesc Psychiatry (2009) 1.12
New mutations in TK2 gene associated with mitochondrial DNA depletion. Pediatr Neurol (2006) 1.11
Reconstructing ancient mitochondrial DNA links between Africa and Europe. Genome Res (2012) 1.10
The genetic and metabolic signature of oncocytic transformation implicates HIF1alpha destabilization. Hum Mol Genet (2009) 1.10
The enigmatic origin of bovine mtDNA haplogroup R: sporadic interbreeding or an independent event of Bos primigenius domestication in Italy? PLoS One (2010) 1.09
Towards a common disability assessment framework: theoretical and methodological issues for providing public services and benefits using ICF. Disabil Rehabil (2009) 1.09
Mitochondrial DNA haplogroups do not play a role in the variable phenotypic presentation of the A3243G mutation. Am J Hum Genet (2003) 1.09
Rapid coastal spread of First Americans: novel insights from South America's Southern Cone mitochondrial genomes. Genome Res (2012) 1.08
The background of mitochondrial DNA haplogroup J increases the sensitivity of Leber's hereditary optic neuropathy cells to 2,5-hexanedione toxicity. PLoS One (2009) 1.08
Genomic insights into the origin of farming in the ancient Near East. Nature (2016) 1.07
The first ALS2 missense mutation associated with JPLS reveals new aspects of alsin biological function. Brain (2006) 1.07
Respiratory complex I dysfunction due to mitochondrial DNA mutations shifts the voltage threshold for opening of the permeability transition pore toward resting levels. J Biol Chem (2008) 1.07
Pharmacological and nutritional treatment for McArdle disease (Glycogen Storage Disease type V). Cochrane Database Syst Rev (2014) 1.07
Evidence for sub-haplogroup h5 of mitochondrial DNA as a risk factor for late onset Alzheimer's disease. PLoS One (2010) 1.06
A clinical, genetic, and biochemical characterization of SPG7 mutations in a large cohort of patients with hereditary spastic paraplegia. Hum Mutat (2008) 1.06
The ND1 gene of complex I is a mutational hot spot for Leber's hereditary optic neuropathy. Ann Neurol (2004) 1.05
Bioenergetics shapes cellular death pathways in Leber's hereditary optic neuropathy: a model of mitochondrial neurodegeneration. Biochim Biophys Acta (2004) 1.04
Mitochondrial DNA backgrounds might modulate diabetes complications rather than T2DM as a whole. PLoS One (2011) 1.04
Ancient migratory events in the Middle East: new clues from the Y-chromosome variation of modern Iranians. PLoS One (2012) 1.03
The first peopling of South America: new evidence from Y-chromosome haplogroup Q. PLoS One (2013) 1.03
Antioxidant defences in cybrids harboring mtDNA mutations associated with Leber's hereditary optic neuropathy. FEBS J (2005) 1.03
Molecular dissection of the Y chromosome haplogroup E-M78 (E3b1a): a posteriori evaluation of a microsatellite-network-based approach through six new biallelic markers. Hum Mutat (2006) 1.02
Autosomal and uniparental portraits of the native populations of Sakha (Yakutia): implications for the peopling of Northeast Eurasia. BMC Evol Biol (2013) 1.02
Detection of Leishmania infantum DNA by fret-based real-time PCR in urine from dogs with natural clinical leishmaniosis. Vet Parasitol (2007) 1.01
Cells bearing mutations causing Leber's hereditary optic neuropathy are sensitized to Fas-Induced apoptosis. J Biol Chem (2001) 1.01
Phylogeography of mtDNA haplogroup R7 in the Indian peninsula. BMC Evol Biol (2008) 1.01
Isolation of transcriptomal changes attributable to LHON mutations and the cybridization process. Brain (2005) 1.00
Neuroendoscopic aspiration of hematocephalus totalis: technical note. Neurosurgery (2005) 1.00
Leber hereditary optic neuropathy mtDNA mutations disrupt glutamate transport in cybrid cell lines. Brain (2004) 1.00
'Distorted' mitochondrial DNA sequences in schizophrenic patients. Eur J Hum Genet (2007) 0.99
Determinants of health and disability in ageing population: the COURAGE in Europe Project (collaborative research on ageing in Europe). Clin Psychol Psychother (2013) 0.97
Origin and spread of Bos taurus: new clues from mitochondrial genomes belonging to haplogroup T1. PLoS One (2012) 0.97
Moving towards ICF use for monitoring the UN Convention on the rights of persons with disabilities: the Italian experience. Disabil Rehabil (2009) 0.96
Rare primary mitochondrial DNA mutations and probable synergistic variants in Leber's hereditary optic neuropathy. PLoS One (2012) 0.96