Published in Nat Genet on July 01, 2001
Mitochondrial DNA mutations in human disease. Nat Rev Genet (2005) 8.51
Mitochondrial optic neuropathies - disease mechanisms and therapeutic strategies. Prog Retin Eye Res (2010) 3.58
Mitochondrial energetics and therapeutics. Annu Rev Pathol (2010) 3.07
Detection and quantification of mitochondrial DNA deletions in individual cells by real-time PCR. Nucleic Acids Res (2002) 2.88
Composition and dynamics of human mitochondrial nucleoids. Mol Biol Cell (2003) 2.74
Inherited mitochondrial diseases of DNA replication. Annu Rev Med (2008) 2.68
Human mitochondrial DNA: roles of inherited and somatic mutations. Nat Rev Genet (2012) 2.59
Reconstitution of a minimal mtDNA replisome in vitro. EMBO J (2004) 2.49
The role of mitochondrial DNA mutations in mammalian aging. PLoS Genet (2007) 2.25
The functional organization of mitochondrial genomes in human cells. BMC Biol (2004) 2.20
Decreased mtDNA, oxidative stress, cardiomyopathy, and death from transgenic cardiac targeted human mutant polymerase gamma. Lab Invest (2006) 2.14
The in-depth evaluation of suspected mitochondrial disease. Mol Genet Metab (2008) 2.13
Human DNA2 is a mitochondrial nuclease/helicase for efficient processing of DNA replication and repair intermediates. Mol Cell (2008) 2.12
Mitochondrial form and function. Nature (2014) 2.11
Parkin overexpression selects against a deleterious mtDNA mutation in heteroplasmic cybrid cells. Proc Natl Acad Sci U S A (2010) 2.10
Energetics, epigenetics, mitochondrial genetics. Mitochondrion (2009) 2.08
Human mitochondrial DNA is packaged with TFAM. Nucleic Acids Res (2003) 2.01
Architectural role of mitochondrial transcription factor A in maintenance of human mitochondrial DNA. Mol Cell Biol (2004) 1.97
Evidence for a two membrane-spanning autonomous mitochondrial DNA replisome. J Cell Biol (2003) 1.92
Mutant mitochondrial helicase Twinkle causes multiple mtDNA deletions and a late-onset mitochondrial disease in mice. Proc Natl Acad Sci U S A (2005) 1.88
The pathophysiology of mitochondrial disease as modeled in the mouse. Genes Dev (2009) 1.87
Defects in mitochondrial DNA replication and human disease. Crit Rev Biochem Mol Biol (2011) 1.86
Human Dna2 is a nuclear and mitochondrial DNA maintenance protein. Mol Cell Biol (2009) 1.83
Substoichiometric shifting in the plant mitochondrial genome is influenced by a gene homologous to MutS. Proc Natl Acad Sci U S A (2003) 1.82
Mitochondrial DNA deletions inhibit proteasomal activity and stimulate an autophagic transcript. Free Radic Biol Med (2006) 1.73
Expression of catalytic mutants of the mtDNA helicase Twinkle and polymerase POLG causes distinct replication stalling phenotypes. Nucleic Acids Res (2007) 1.69
Mitochondrial DNA mutations in disease and aging. J Cell Biol (2011) 1.67
Regulation of mitochondrial D-loops by transcription factor A and single-stranded DNA-binding protein. EMBO Rep (2002) 1.61
The AAA+ protein ATAD3 has displacement loop binding properties and is involved in mitochondrial nucleoid organization. J Cell Biol (2007) 1.53
The neuro-ophthalmology of mitochondrial disease. Surv Ophthalmol (2010) 1.51
A heterozygous truncating mutation in RRM2B causes autosomal-dominant progressive external ophthalmoplegia with multiple mtDNA deletions. Am J Hum Genet (2009) 1.40
Twinkle and POLG defects enhance age-dependent accumulation of mutations in the control region of mtDNA. Nucleic Acids Res (2004) 1.38
Mitochondrial DNA depletion syndromes: review and updates of genetic basis, manifestations, and therapeutic options. Neurotherapeutics (2013) 1.36
The clinical, histochemical, and molecular spectrum of PEO1 (Twinkle)-linked adPEO. Neurology (2010) 1.36
Mitochondria. J Neurol Neurosurg Psychiatry (2003) 1.36
Autosomal recessive cerebellar ataxias. Orphanet J Rare Dis (2006) 1.34
Mitochondrial biogenesis in the axons of vertebrate peripheral neurons. Dev Neurobiol (2008) 1.32
Techniques and pitfalls in the detection of pathogenic mitochondrial DNA mutations. J Mol Diagn (2003) 1.32
Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease. Nat Genet (2013) 1.30
Mitochondrial genetics. Br Med Bull (2013) 1.30
Genetic insights into OXPHOS defect and its role in cancer. Biochim Biophys Acta (2010) 1.29
Twinkle, the mitochondrial replicative DNA helicase, is widespread in the eukaryotic radiation and may also be the mitochondrial DNA primase in most eukaryotes. J Mol Evol (2006) 1.28
A mitochondrial bioenergetic etiology of disease. J Clin Invest (2013) 1.27
Multisystem manifestations of mitochondrial disorders. J Neurol (2009) 1.25
Twinkle mutations associated with autosomal dominant progressive external ophthalmoplegia lead to impaired helicase function and in vivo mtDNA replication stalling. Hum Mol Genet (2008) 1.23
Mitochondrial DNA determines androgen dependence in prostate cancer cell lines. Oncogene (2006) 1.23
The Schizosaccharomyces pombe Pfh1p DNA helicase is essential for the maintenance of nuclear and mitochondrial DNA. Mol Cell Biol (2008) 1.21
Modular architecture of the hexameric human mitochondrial DNA helicase. J Mol Biol (2007) 1.21
Localisation of the human hSuv3p helicase in the mitochondrial matrix and its preferential unwinding of dsDNA. Nucleic Acids Res (2002) 1.20
MPV17 mutation causes neuropathy and leukoencephalopathy with multiple mtDNA deletions in muscle. Neuromuscul Disord (2012) 1.18
Mitochondrial genome deletions and minicircles are common in lice (Insecta: Phthiraptera). BMC Genomics (2011) 1.18
Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia. J Neurol (2008) 1.17
Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions. Brain (2012) 1.16
TWINKLE is an essential mitochondrial helicase required for synthesis of nascent D-loop strands and complete mtDNA replication. Hum Mol Genet (2013) 1.16
A hybrid G-quadruplex structure formed between RNA and DNA explains the extraordinary stability of the mitochondrial R-loop. Nucleic Acids Res (2012) 1.15
Human mitochondrial DNA replication. Cold Spring Harb Perspect Biol (2012) 1.15
POS5 gene of Saccharomyces cerevisiae encodes a mitochondrial NADH kinase required for stability of mitochondrial DNA. Eukaryot Cell (2003) 1.14
Import of mitochondrial transcription factor A (TFAM) into rat liver mitochondria stimulates transcription of mitochondrial DNA. Nucleic Acids Res (2003) 1.12
Differential phenotypes of active site and human autosomal dominant progressive external ophthalmoplegia mutations in Drosophila mitochondrial DNA helicase expressed in Schneider cells. J Biol Chem (2007) 1.11
Mitochondrial biogenesis and turnover. Cell Calcium (2008) 1.10
The N-terminal domain of TWINKLE contributes to single-stranded DNA binding and DNA helicase activities. Nucleic Acids Res (2007) 1.10
Phosphorylated BRCA1 is predominantly located in the nucleus and mitochondria. Mol Biol Cell (2004) 1.09
Regulation of mitochondrial DNA content and cancer. Mitochondrion (2006) 1.07
The accessory subunit B of DNA polymerase gamma is required for mitochondrial replisome function. Nucleic Acids Res (2007) 1.06
Progressive external ophthalmoplegia and vision and hearing loss in a patient with mutations in POLG2 and OPA1. Arch Neurol (2008) 1.04
Mouse models of mitochondrial DNA defects and their relevance for human disease. EMBO Rep (2009) 1.03
Syndromic parkinsonism and dementia associated with OPA1 missense mutations. Ann Neurol (2015) 1.02
On the timing and the extent of clonal expansion of mtDNA deletions: evidence from single-molecule PCR. Exp Neurol (2009) 1.02
Human mitochondrial RNA decay mediated by PNPase-hSuv3 complex takes place in distinct foci. Nucleic Acids Res (2012) 1.02
Disease variants of the human mitochondrial DNA helicase encoded by C10orf2 differentially alter protein stability, nucleotide hydrolysis, and helicase activity. J Biol Chem (2010) 1.00
Helicase Hmi1 stimulates the synthesis of concatemeric mitochondrial DNA molecules in yeast Saccharomyces cerevisiae. Curr Genet (2005) 1.00
Two families with autosomal dominant progressive external ophthalmoplegia. J Neurol Neurosurg Psychiatry (2004) 0.99
Replicating animal mitochondrial DNA. Genet Mol Biol (2013) 0.99
Human mitochondrial DNA helicase TWINKLE is both an unwinding and annealing helicase. J Biol Chem (2012) 0.99
Physiological and biochemical defects in carboxyl-terminal mutants of mitochondrial DNA helicase. J Biol Chem (2008) 0.98
Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features. Neurology (2014) 0.97
MPV17 Mutations Causing Adult-Onset Multisystemic Disorder With Multiple Mitochondrial DNA Deletions. Arch Neurol (2012) 0.96
Adults with RRM2B-related mitochondrial disease have distinct clinical and molecular characteristics. Brain (2012) 0.96
A novel mitochondrial tRNA(Ala) gene variant causes chronic progressive external ophthalmoplegia in a patient with Huntington disease. Mol Genet Metab Rep (2016) 0.95
DNA damage and base excision repair in mitochondria and their role in aging. J Aging Res (2010) 0.95
The mitochondrial DNA helicase TWINKLE can assemble on a closed circular template and support initiation of DNA synthesis. Nucleic Acids Res (2011) 0.94
Mitochondrial disease in adults: what's old and what's new? EMBO Mol Med (2015) 0.94
Mitochondrial disorders: clinical presentation and diagnostic dilemmas. J Inherit Metab Dis (2003) 0.93
Dominant membrane uncoupling by mutant adenine nucleotide translocase in mitochondrial diseases. Hum Mol Genet (2008) 0.93
Assessment of newly synthesized mitochondrial DNA using BrdU labeling in primary neurons from Alzheimer's disease mice: Implications for impaired mitochondrial biogenesis and synaptic damage. Biochim Biophys Acta (2011) 0.93
In vivo occupancy of mitochondrial single-stranded DNA binding protein supports the strand displacement mode of DNA replication. PLoS Genet (2014) 0.93
Animal models of mitochondrial DNA transactions in disease and ageing. Exp Gerontol (2010) 0.93
The genetics of strabismus. J Med Genet (2004) 0.92
Enzymes involved in organellar DNA replication in photosynthetic eukaryotes. Front Plant Sci (2014) 0.92
Mouse models of oxidative phosphorylation defects: powerful tools to study the pathobiology of mitochondrial diseases. Biochim Biophys Acta (2008) 0.90
Association of G-quadruplex forming sequences with human mtDNA deletion breakpoints. BMC Genomics (2014) 0.90
Defects of mitochondrial DNA replication. J Child Neurol (2014) 0.90
A history of mitochondrial diseases. J Inherit Metab Dis (2010) 0.90
Genome-wide comprehensive analysis of human helicases. Commun Integr Biol (2011) 0.90
Transformations of the macromolecular landscape at mitochondria during DNA-damage-induced apoptotic cell death. Cell Death Dis (2014) 0.90
G-quadruplexes and helicases. Nucleic Acids Res (2016) 0.90
Genetics and mitochondrial abnormalities in autism spectrum disorders: a review. Curr Genomics (2011) 0.89
Functional importance of the conserved N-terminal domain of the mitochondrial replicative DNA helicase. Biochim Biophys Acta (2008) 0.89
The interface of transcription and DNA replication in the mitochondria. Biochim Biophys Acta (2011) 0.88
Identification and characterization of a spinal muscular atrophy-determining gene. Cell (1995) 17.41
LDL receptor-related protein 5 (LRP5) affects bone accrual and eye development. Cell (2001) 11.99
Multi-system neurological disease is common in patients with OPA1 mutations. Brain (2010) 5.37
Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome. N Engl J Med (1989) 4.87
Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease. Cell (1998) 4.41
Loss-of-heterozygosity analysis of small-cell lung carcinomas using single-nucleotide polymorphism arrays. Nat Biotechnol (2000) 4.10
Foreign bodies in the nasal cavities: a comprehensive review of the aetiology, diagnostic pointers, and therapeutic measures. Postgrad Med J (2000) 3.95
Comparison of MRI criteria at first presentation to predict conversion to clinically definite multiple sclerosis. Brain (1997) 3.87
Familial progressive sensorineural deafness is mainly due to the mtDNA A1555G mutation and is enhanced by treatment of aminoglycosides. Am J Hum Genet (1998) 3.86
Mitochondrial myopathies. Ann Neurol (1985) 3.81
Natural history and life expectancy in severe alpha1-antitrypsin deficiency, Pi Z. Acta Med Scand (1978) 3.58
Mutation analysis of the BRCA2 gene in 49 site-specific breast cancer families. Nat Genet (1996) 3.56
Haplotype and phylogenetic analyses suggest that one European-specific mtDNA background plays a role in the expression of Leber hereditary optic neuropathy by increasing the penetrance of the primary mutations 11778 and 14484. Am J Hum Genet (1997) 3.48
250 microg or 500 microg interferon beta-1b versus 20 mg glatiramer acetate in relapsing-remitting multiple sclerosis: a prospective, randomised, multicentre study. Lancet Neurol (2009) 3.37
Muscleblind localizes to nuclear foci of aberrant RNA in myotonic dystrophy types 1 and 2. Hum Mol Genet (2001) 3.27
Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency. Am J Hum Genet (1998) 3.08
HRPT2, encoding parafibromin, is mutated in hyperparathyroidism-jaw tumor syndrome. Nat Genet (2002) 3.07
A direct repeat is a hotspot for large-scale deletion of human mitochondrial DNA. Science (1989) 3.02
BRCA2 mutations in primary breast and ovarian cancers. Nat Genet (1996) 2.91
De novo and inherited deletions of the 5q13 region in spinal muscular atrophies. Science (1994) 2.87
White matter damage in Alzheimer's disease assessed in vivo using diffusion tensor magnetic resonance imaging. J Neurol Neurosurg Psychiatry (2002) 2.72
Leber hereditary optic neuropathy: identification of the same mitochondrial ND1 mutation in six pedigrees. Am J Hum Genet (1991) 2.70
The indocyanine green method is equivalent to the ⁹⁹mTc-labeled radiotracer method for identifying the sentinel node in breast cancer: a concordance and validation study. Eur J Surg Oncol (2013) 2.69
Coupled leading- and lagging-strand synthesis of mammalian mitochondrial DNA. Cell (2000) 2.67
Role of adenine nucleotide translocator 1 in mtDNA maintenance. Science (2000) 2.66
Clinical and molecular findings in children with complex I deficiency. Biochim Biophys Acta (2004) 2.52
Very short repeats and coordinate induction of genes. Nature (1983) 2.44
Water transport activity of the plasma membrane aquaporin PM28A is regulated by phosphorylation. Plant Cell (1998) 2.38
Congenital muscular dystrophies with defective glycosylation of dystroglycan: a population study. Neurology (2009) 2.33
The role of aquaporins in cellular and whole plant water balance. Biochim Biophys Acta (2000) 2.31
Recombination via flanking direct repeats is a major cause of large-scale deletions of human mitochondrial DNA. Nucleic Acids Res (1990) 2.28
Diffusion tensor magnetic resonance imaging in multiple sclerosis. Neurology (2001) 2.24
Chromosomal alterations in 15 breast cancer cell lines by comparative genomic hybridization and spectral karyotyping. Genes Chromosomes Cancer (2000) 2.24
Cytochrome c oxidase deficiency in Leigh syndrome. Ann Neurol (1987) 2.20
Congenital heart diseases in children with Noonan syndrome: An expanded cardiac spectrum with high prevalence of atrioventricular canal. J Pediatr (1999) 2.18
Autoantibodies detected to expressed K+ channels are implicated in neuromyotonia. Ann Neurol (1997) 2.17
Identification of the gene encoding the human mitochondrial RNA polymerase (h-mtRPOL) by cyberscreening of the Expressed Sequence Tags database. Hum Mol Genet (1997) 2.15
Sealed inside-out and right-side-out plasma membrane vesicles : optimal conditions for formation and separation. Plant Physiol (1990) 2.14
Reliability of the North Star Ambulatory Assessment in a multicentric setting. Neuromuscul Disord (2009) 2.13
Preliminary toxicity studies on ethanol extracts of the aerial parts of Artemisia abyssinica and A. Inculta in mice. J Ethnopharmacol (1990) 2.13
Randomized, double-blind, placebo-controlled trial of phenylbutyrate in spinal muscular atrophy. Neurology (2006) 2.11
Environmental risk factors and clinical phenotype in familial and sporadic primary blepharospasm. Neurology (2011) 2.10
Somatic deletions and mutations in the Cowden disease gene, PTEN, in sporadic thyroid tumors. Cancer Res (1997) 2.06
Functional changes in Duchenne muscular dystrophy: a 12-month longitudinal cohort study. Neurology (2011) 2.06
Laryngopharyngeal reflux: A literature review. Surgeon (2006) 2.06
Expression of transforming growth factor-beta 1 in dystrophic patient muscles correlates with fibrosis. Pathogenetic role of a fibrogenic cytokine. J Clin Invest (1995) 2.06
Similar low frequency of anti-MOG IgG and IgM in MS patients and healthy subjects. Neurology (2004) 2.04
Default-mode network dysfunction and cognitive impairment in progressive MS. Neurology (2010) 2.03
Primary pathogenic mtDNA mutations in multigeneration pedigrees with Leber hereditary optic neuropathy. Am J Hum Genet (1996) 2.03
Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations. Neurology (2005) 2.01
Randomized controlled trial of intravenous immunoglobulin versus oral prednisolone in chronic inflammatory demyelinating polyradiculoneuropathy. Ann Neurol (2001) 2.00
Muscle-eye-brain disease (MEB) Brain Dev (1989) 2.00
Properties of the human muscle nicotinic receptor, and of the slow-channel myasthenic syndrome mutant epsilonL221F, inferred from maximum likelihood fits. J Physiol (2003) 1.99
Pre- and post-synaptic abnormalities associated with impaired neuromuscular transmission in a group of patients with 'limb-girdle myasthenia'. Brain (2006) 1.95
Arthrogryposis multiplex congenita with maternal autoantibodies specific for a fetal antigen. Lancet (1995) 1.94
A randomized, double-blind, placebo-controlled, parallel-group, enriched-design study of nabiximols* (Sativex(®) ), as add-on therapy, in subjects with refractory spasticity caused by multiple sclerosis. Eur J Neurol (2011) 1.93
Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12-13. Am J Hum Genet (1996) 1.89
POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement. Neurology (2004) 1.89
Mitochondrial myopathies: clinical and biochemical features of 30 patients with major deletions of muscle mitochondrial DNA. Ann Neurol (1989) 1.88
Cortical/subcortical disease burden and cognitive impairment in patients with multiple sclerosis. AJNR Am J Neuroradiol (2000) 1.88
Evidence that nebulin is a protein-ruler in muscle thin filaments. FEBS Lett (1991) 1.87
Cognitive and psychosocial features of childhood and juvenile MS. Neurology (2008) 1.85
Cognitive and psychosocial features in childhood and juvenile MS: two-year follow-up. Neurology (2010) 1.85
Paraplegia following coeliac plexus block. Pain (1993) 1.85
Different mutations in the LMNA gene cause autosomal dominant and autosomal recessive Emery-Dreifuss muscular dystrophy. Am J Hum Genet (2000) 1.84
A novel mitochondrial point mutation in a maternal pedigree with sensorineural deafness. Hum Mutat (1994) 1.81
Influence of the nitrogen source on Saccharomyces cerevisiae anaerobic growth and product formation. Appl Environ Microbiol (1996) 1.81
Ovarian cancer risk in BRCA1 carriers is modified by the HRAS1 variable number of tandem repeat (VNTR) locus. Nat Genet (1996) 1.79
The major integral proteins of spinach leaf plasma membranes are putative aquaporins and are phosphorylated in response to Ca2+ and apoplastic water potential. Plant Cell (1996) 1.79
The R28 protein of Streptococcus pyogenes is related to several group B streptococcal surface proteins, confers protective immunity and promotes binding to human epithelial cells. Mol Microbiol (1999) 1.79
Transthyretin: a choroid plexus-specific transport protein in human brain. The 1986 S. Weir Mitchell award. Neurology (1986) 1.78
Oral fingolimod (FTY720) in multiple sclerosis: two-year results of a phase II extension study. Neurology (2009) 1.78
Clinical and molecular features of mitochondrial DNA depletion syndromes. J Inherit Metab Dis (2008) 1.77
Selective inhibition of 11beta-hydroxysteroid dehydrogenase type 1 decreases blood glucose concentrations in hyperglycaemic mice. Diabetologia (2002) 1.77
Glatiramer acetate reduces the proportion of new MS lesions evolving into "black holes". Neurology (2001) 1.76
Brij 58, a polyoxyethylene acyl ether, creates membrane vesicles of uniform sidedness. A new tool to obtain inside-out (cytoplasmic side-out) plasma membrane vesicles. Plant J (1995) 1.75
Correlation of multiple sclerosis measures derived from T2-weighted, T1-weighted, magnetization transfer, and diffusion tensor MR imaging. AJNR Am J Neuroradiol (2001) 1.75
Identification of novel genes in late-onset Alzheimer's disease. Exp Gerontol (2000) 1.74
Maternally inherited myopathy and cardiomyopathy: association with mutation in mitochondrial DNA tRNA(Leu)(UUR). Lancet (1991) 1.73
The contribution of voxel-based morphometry in staging patients with mild cognitive impairment. Neurology (2006) 1.72
Autoantibodies to glutamic acid decarboxylase in palatal myoclonus and epilepsy. Ann Neurol (1994) 1.72
Proteolytic activation of the plant plasma membrane H(+)-ATPase by removal of a terminal segment. J Biol Chem (1990) 1.71
Decrease of 3243 A-->G mtDNA mutation from blood in MELAS syndrome: a longitudinal study. Am J Hum Genet (2000) 1.71
MDR1 pharmacogenetics: frequency of the C3435T mutation in exon 26 is significantly influenced by ethnicity. Pharmacogenetics (2001) 1.70
A conserved sorting-associated protein is mutant in chorea-acanthocytosis. Nat Genet (2001) 1.69
Celiac disease, brain atrophy, and dementia. Neurology (1991) 1.69
Plasma membranes from oats prepared by partition in an aqueous polymer two-phase system : on the use of light-induced cytochrome B reduction as a marker for the plasma membrane. Plant Physiol (1982) 1.69
Clustered inactivating mutations and benign polymorphisms of the calcium receptor gene in familial benign hypocalciuric hypercalcemia suggest receptor functional domains. J Clin Endocrinol Metab (1996) 1.69
In vivo functional analysis of the human mitochondrial DNA polymerase POLG expressed in cultured human cells. J Biol Chem (2000) 1.68
Effect of the ACE inhibitor lisinopril on mortality in diabetic patients with acute myocardial infarction: data from the GISSI-3 study. Circulation (1997) 1.68
Acute myeloid leukemia in Italian patients with multiple sclerosis treated with mitoxantrone. Neurology (2011) 1.68
Identification of an autoinhibitory domain in the C-terminal region of the plant plasma membrane H(+)-ATPase. J Biol Chem (1991) 1.68