Property Summary

NCBI Gene PubMed Count 237
PubMed Score 388.98
PubTator Score 458.73

Knowledge Summary

Patent

No data available

TINX Plot

  Disease (6)

Expression

  Differential Expression (5)

Disease log2 FC p
osteosarcoma 1.391 5.9e-06
intraductal papillary-mucinous adenoma (... 1.200 5.4e-04
intraductal papillary-mucinous carcinoma... 1.300 1.5e-03
lung cancer -1.600 8.1e-03
ovarian cancer 1.200 8.3e-05

 GWAS Trait (1)

Gene RIF (220)

PMID Text
26755490 Herein we report a patient with a POLG gene W748S homozygous mutation and characteristic lesions in the thalamus, cerebellum and inferior olivary nucleus seen on magnetic resonance imaging.
26735972 The variable and overlapping clinical and neuropathological phenotypes and downstream molecular defects caused by the A467T mutation.
26468652 altered genetic and epigenetic regulation of POLG1 in human cancers and suggest a role for POLG1 germline variants in promoting tumorigenic properties.
26446790 The stimulatory effect of mtSSB on Pol gamma on these ssDNA templates is not species-specific.
26335356 Data suggest that methylation of mitochondrial DNA in exon 2 of POLGA is instrumental in regulation of DNA replication in pluripotent stem cells, in embryonic development, and in tumorigenesis. [REVIEW]
26317126 CAG repeat polymorphism in the mitochondrial DNA polymerase gamma gene (POLG) does not appear to be associated with colorectal cancer
26104464 This study describe the epilepsy syndrome in seven patients with POLG mutations.
26095671 POLG's 3'-5' exonuclease proofreading activity is required for the creation of ligatable ends during mtDNA replication.
26077851 Familial analysis indicated causal relationship of POLG variants with mitochondrial disease, consistent with autosomal recessive inheritance.
26056153 Crystal structure of POLG1 in complex with mitochondrial DNA
25724872 Multiple deletions of mitochondrial DNA were detected along with a novel mutation in POLG1 in patients with Parkinsonism, cognitive deficit and behavioral disturbance.
25713120 A POLG gene mutation was identified in a case of hypertrophic olivary degeneration.
25660390 Family case study and literature review of the complexity of genotype-phenotype correlations of POLG1 gene
25585994 The results of this study provided evidence for a significantly lower of mtDNA copy number in PD patients and POLG1 variation for reducing mtDNA copy number in Parkinson dseases.
25488682 Computational analysis of the PolG protein suggests that the p.K601E mutation is likely the most significant contributing factor to a pathogenic phenotype in an adult mitochondrial ataxia.
25210026 case report of an unusual encephalopathy caused by POLG mutation
25118206 Phenotypes associated with POLG mutations follow a reproducible pattern, which allows establishing a diagnostic flow chart
25065347 mutations associated with acute valproate-induced liver failure
24943079 systemic mutational analysis in both sisters revealed a heterozygous p.Y955C (c.2864A>G) mutation in POLG1
24841123 POLG mutations appear to compromise neuronal respiration via a combination of early and stable depletion and a progressive somatic mutagenesis of the mitochondrial genome.
24524965 Mitochondrial DNA (mtDNA) content plays an important role in energy production and sustaining normal physiological function.
24508722 study established genotype-phenotype correlations for complete spectrum of POLG syndromes by refining mapping of pathogenic mutations in the POLG gene to functional clusters in the catalytic core of the mitochondrial replicase, Pol gamma
24491464 These data provide no evidence to suggest CAG repeat length in POLG1 affects Parkinson's disease susceptibility.
24398692 content, and depolarized mitochondrial membranes. The severity of the Pol-gamma mutant phenotype in heterozygous diploid humanized yeast correlates with the approximate age of disease onset and the severity of symptoms observed in humans.
24122062 Our findings provide two lines of evidence suggesting a role for POLG1 mutations in Parkinson's disease
24067899 RECQL4 and p53 potentiate the activity of polymerase gamma and maintain the integrity of the human mitochondrial genome.
23962909 findings suggest that monogenic POLG mutations are not a common pathogenic determinant of severe stavudine-associated mitochondrial toxicity in Malawians
23921535 We confirm that large deletions in the POLG gene are rare events, we highlight the importance of quantitative multiplex PCR of short fluorescent fragments in patients with a single heterozygous POLG mutation, particularly in severe infantile phenotypes.
23912752 The present study confirmed no association between the POLG gene polymorphism and male infertility.
23673011 neuromelanin imaging results were consistent with the neuropathological findings reported in cases of POLG1 mutations, in which neurons of the substantia nigra were profoundly affected while those in the locus ceruleus were preserved
23625061 structural and functional changes in the substantia nigra of 11 patients with polymerase gamma mutations
23543747 acrolein-induced exocyclic DNA lesions can be bypassed by mitochondrial DNA polymerase
23525847 Mitochondrial deafness can be caused by a variety of genetic mutation.
23448099 mutations associated with intractable epilepsy in children
23446635 POLgammaA depletion causes inefficient initiation of light-strand DNA synthesis and lead to mitochondrial DNA deletions and autosomal dominant progressive external ophthalmoplegia.
23251356 Our findings indicate that POLG1 may play a role in the pathogenesis of parkinson disease in Chinese populations.
23250882 This clinical results show that the homozygous p.Ala467Thr POLG mutation does not cause discrete phenotypes, as previously suggested, but rather there is a continuum of clinical symptoms.
23208208 A957P mutantion in DNA polymerase gamma showed the most striking deficiencies in the incorporation efficiency of deoxyribonucleotide triphosphate.
23066759 Mutations in POLG and other genes with rare copy number variations are not responsible for febrile infection-related epilepsy syndrome (FIRES).
22963882 The meta-analysis reveals that the rare allelic variation encompassed by non-10 CAG repeats associates significantly with Parkinson disease (p=0.0017).
22729384 This study suggested that hypertrophic olivary degeneration on magnetic resonance imaging in mitochondrial syndromes associated with POLG and SURF1 mutations.
22728862 This study demonistrated that plg1 mutation in patient with progressive external ophthalmoplegia.
22711370 This study supported that the POLG W748S and A467T mutations association to ataxia patients from Spain.
22684821 A SNP in the promoter region of POLG (rs2856268, A>G) showed a protective effect for homozygous GG carriers (odds ratio 0.81, 95% confidence intervals 0.65-1.00).
22647225 The prevalence of pathogenic POLG mutations in this selected adult Australian cohort with clinical manifestations suggestive of mitochondrial disease is 10%.
22580846 analysis did not reveal disease causing POLG or PEO1 mutations in patients with atypical parkinsonism
22577219 This study showed that Microangiopathy in the cerebellum of patients with mitochondrial DNA disease with POLG mutation.
22552686 POLG mutations more usually associated with neurological disease are not a common cause of isolated Primary Ovarian Insufficiency (POI), and POLG mutations result in premature ovarian ageing only in the context of complex neurological disease
22528963 none of the POLG-associated ataxia patients showed impaired central motor conduction
22517274 These findings suggested that patients carrying A3243G are always exposed to underlying to underlying oxidative stress.
22334187 This study had clearly shown that p.Arg953Cys is an autosomal recessive mutation in our family and co-segregates with a more complex clinical phenotype: ophthalmoplegia; gait abnormalities; parkinsonism; sensory neuropathy; cardiomyopathy; and depression
22276120 Study suggests that POLG-CAG repeat length is a potential risk factor for breast cancer that needs to be explored in larger population-based studies.
22194617 Mitochondrial DNA Pol gamma can bypass thymine dimers with reduced efficiency.
22084276 [review] This review discusses types of interaction of POLG in human mitochondrial diseases and its activity in the mitochondrial genome.
22000311 Developmental regression and refractory focal motor or myoclonic seizures are consistent clinical features of Alpers syndrome with polymerase-gamma mutations.
21993618 This study demonistrated that polg1 mutation may cause MNGIE-like syndrome.
21953457 mtSSB uses distinct structural elements to interact functionally with its mtDNA replisome partners and to promote proper mtDNA replication in animal cells
21880868 Array comparative genomic hybridisation analyses done on DNA samples from 81 patients with one mutant POLG allele i.d.'d a large intragenic deletion in only one patient, but the 92 patients with two mutant alleles exhibited a broad spectrum of disease.
21856450 These data suggest that the G517V mutation by itself in pol gamma most likely does not have a role in mitochondrial disorders.
21824913 A review of mutations of POLG indicates that recessive mutations cluster within five distinct functional modules in the catalytic core of Pol gamma.
21778232 human mitochondrial DNA polymerase gamma discriminates ribonucleotides efficiently but differentially based on the base identity.
21704543 This study demonistrated that the POLG1 mutation is relate to Alpers' disease and Partial status epilepticus.
21696159 These results support a role for Y955 in stabilizing A:T base pairs at the active site of pol gamma.
21670405 Early-onset dyschromatopsia and optic atrophy can occur not only in OPA1-related but also in POLG-related disorders with significant impact on genetic counseling.
21550804 two novel mutations (namely, p.Trp585X and p.Arg1081Gln) in POLG of patients harboring multiple mtDNA deletions in skeletal muscle
21455106 the p.W748S POLG gene mutation was revealed in 2 children who fulfilled the Alpers-Huttenlocher syndrome criteria; results confirm the occurrence of a pathology caused by POLG gene mutation(s) in the Polish population
21357833 In seven patients with POLG1 mutations, all had severe encephalopathy with intractable epilepsy (Alpers syndrome).
21228000 Y955C mutation in POLgammaA causes sequence-specific stalling.
21138766 Mutations in POLG impair mitochondrial DNA repopulation and is associated with mitochondrial diseases.
21102476 a comparison of the POLG-CAG-repeat alleles in fertile versus infertile Chinese Han men showed no obvious risk for male infertility associated with any particular allele
21038416 Prospective genetic testing of POLG will identify individuals at high risk of sodium valproate induced ootentialy fatal liver toxocity.
21038416 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
20927567 the current evidence that identifies and explains disease-causing POLG mutations (Review)
20883824 Saccharomyces cerevisiae validated the pathogenic significance of 8 mutations in the mitochondrial POLG gene, namely G303R, S305R, R386H, R574W, P625R, D930N, K947R and P1073L, among which 3 are novel and 4 are of unclear pathological significance.
20877624 Observational study of gene-disease association. (HuGE Navigator)
20826197 A POLG1 trinucleotide repeat in Swedish Parkinson's disease (PD) case-control material is evidence for involvement of POLG1 in mitochondrial dysfunction in PD.
20818731 We also identify genotype-phenotype relationships, give clues for diagnosis, and summarize the major clinical phenotypes in the spectrum of POLG disease presenting from birth to old age.
20818669 patients with POLG mutations and complex hyperkinetic movement disorder as initial symptom, whereas other common POLG-associated symptoms did not evolve until three years later.
20803511 POLG mutation is rather common in Central European cerebellar ataxia patients.
20800603 Observational study of gene-disease association. (HuGE Navigator)
20734064 Observational study of gene-disease association. (HuGE Navigator)
20701905 Mutations in POLG are not prevalent etiology for primary ovarian insufficiency.
20701905 Observational study of gene-disease association. (HuGE Navigator)
20691285 We showed a significant decrease of polymerase activity in organello for both patients, providing evidence that these POLG variations affect enzyme catalysis and play a major role in the Alpers syndrome. phenotype.
20685647 histidine 932 of the human mitochondrial DNA polymerase has a role in nucleotide discrimination and inherited disease
20643228 POLG expression was related to decreased mtDNA copy number, and its overexpression associated with TFAM expression levels also have an impact on long-term survival among GBM type diffusely infiltrating astrocytomas patients.
20601675 Pathogenic mutations in the 3'-5' exonuclease domain of POLG result in severe impairment of the polymerase function and DNA binding.
20558295 Focus on the most common disorders that result from mutations with POLG, with some discussion of the other nuclear-encoded genes involved in mtDNA maintenance. Review.
20522537 Observational study of gene-disease association. (HuGE Navigator)
20513108 Case of an 80-year-old compound heterozygote man who presented with sensory neuropathy and dysarthria and was found to have three known pathogenic mutations in the POLG1 gene.
20438629 recessive c.2447G>A (p.R722H) mutation in linker region of POLG1 gene is pathogenic for multiple mtDNA deletions in muscle and is associated with late-onset neurological phenotype as a homozygous state; onset can be earlier in compound heterozygotes
20400524 One form of chronic polymerase gamma-encephalopathy, associated with c.1399G > A and c.2243G > C mutations, is characterized by progressive cerebral and cerebellar atrophy and focal lesions of thalamus, deep cerebellar structures and medulla oblongata.
20399836 POLG1 poly-Q alleles other than the conserved 10Q allele may increase susceptibility to PD.
20399836 Observational study of gene-disease association. (HuGE Navigator)
20220442 common clinical phenotypes associated with POLG1 mutations[review]
20198856 Observational study of gene-disease association. (HuGE Navigator)
20181062 Observational study of gene-disease association. (HuGE Navigator)
20176107 Construction and purification of the recombinant wild-type and mutant forms of pol gamma protein, followed by assays to determine its structural integrity and thermal stability. Review.
20153822 the W748S mutant POLGalpha does not exhibit a clear biochemical phenotype, making it indistinguishable from wild type POLGalpha and as such, fails to replicate previously published results
20142534 This study described a novel recessive POLG missense mutation in 4 children who were compound heterozygotes and discuss the relationship between clinical findings and the genotype.
20138553 Four patients who developed VPA-induced hepatotoxicity were examined for POLG sequence variations.
19837034 The holoenzyme Pol gamma structure reveals an unexpected assembly of the mitochondrial DNA replicase where the catalytic subunit Pol gammaA interacts with its processivity factor primarily via a domain that is absent in all other DNA polymerases.
19815814 POLG1 mutation in metabolic strokes, posterior column spinal degeneration, and multi-endocrine disease
19813183 Two siblings who developed fifth-decade-onset, concurrent progressive sensory ataxia, dysarthria, and ophthalmoparesis were found to be homozygous for the p.A467T mutation of the polymerase gamma (POLG) gene.
19807024 of phylogenetic analysis of the POLG1 gene intron 2 nucleotide sequences in humans and chimpanzee have shown that haplotype TT heterogeneous in relation to CAG-repeat polymorphism appears to be evolutionary younger than haplotype CC.
19762913 neurodegenerative phenotype in two siblings with the POLG1 missense mutations, c.2284G>A (A862T) and c.2890C>T (R964C) compound heterozygously
19752458 screened a cohort of ataxia patients with either external ophthalmoplegia or sensory neuropathy for POLG mutations; findings show ataxia with ophthalmoplegia or sensory neuropathy is frequently caused by POLG mutations
19730927 Observational study of gene-disease association. (HuGE Navigator)
19629138 Mutations in mitochondrial DNA polymerase-gamma promote breast tumorigenesis.
19578034 Five new pathogenic recessive mutations in POLG, p.Lys925ArgfsX42, p.R275X, p.G426S, p.A804T and p.R869Q were identified.
19566497 Our findings broaden the genotypic spectrum of POLG-associated progressive external ophthalmoplegia and show that in addition to multiple deletions, mitochondrial DNA depletion occurs and may contribute to the pathogenesis of this disorder.
19501198 POLG mRNA instability due to expression of the A467T allele and decreased expression of the c.2157+5_+6 gc-->ag allele is likely responsible for the Alpers syndrome phenotype.
19478085 Study represents the first structure-function analysis of the thumb subdomain in pol gamma and examines the consequences of mitochondrial disease mutations in this region.
19435586 Mutations in the catalytic subunit of polymerase gamma (POLG1) produce a wide variety of neurological disorders
19425506 Association of the T(-365)C POLG1, G(-25)A ANT1 and G(-605)T PEO1 gene polymorphisms with diabetic polyneuropathy in patients with type 1 diabetes mellitus
19425506 Observational study of gene-disease association. (HuGE Navigator)
19275594 Compared with matched controls, the polymorphisms in E1143 of POLG were significantly more frequent in case patients with lipodystrophy (aOR=4.7; p=0.048), and this was associated with a significant decrease of mtDNA in PBMC.
19275594 Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)
19251978 The addition of these substitutions to the growing list of defects further confirms the importance of POLG1 mutations as the underlying abnormality in a range of neurological presentations.
19243043 No association between common POLG1 variants and sporadic idiopathic Parkinson's disease.
19237606 Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator)
19189930 The aim of this communication is to report 3 pediatric cases associated with DNA polymerase gamma 1 mutations to augment the expanding clinical phenotype that has been previously reported.
19054397 Convulsive status epilepticus was the first obvious sign of Alpers' disease caused by POLG1 mutations
19043662 Our results suggest POLG CAG repeat instability would constitute a predisposing factor that, in combination with environmental risk factors, affect age of onset and disease progression.
19010300 Defects in mitochondrial DNA replication and DNA polymerase gamma lead to mitochondrial dysfunction and several genetic diseases. [REVIEW]
18828154 The first patient with Leigh syndrome caused by POLG mutations, is reported.
18798765 Observational study of gene-disease association. (HuGE Navigator)
18632724 POLG polymorphism may be a contributing factor in the pathogenesis of testicular germ cell cancer.
18585914 five cases of adult onset autosomal recessive sensory ataxic neuropathy with ophthalmoplegia caused by POLG mutations
18581472 This study presentse clinical features of POLG1 mutation and additional novel findings of palatal tremor with HOD on MRI and facial dyskinesia.
18575922 Data show that POLG has a role in determining familial progressive external ophthalmoplegia.
18575922 Observational study of gene-disease association. (HuGE Navigator)
18546365 POLG mutations may have a role in mitochondrial and neurodegenerative disorders
18546343 Apraxia of lid opening mimicking ptosis in compound heterozygosity for A467T and W748S POLG1 mutations.
18504126 ANT1 and PolgammaA, which cause additive, deleterious effects on mtDNA maintenance and integrity,complex encephalomyopathy.
18502641 Here we report two novel mutations in POLG1 in a compound heterozygous patient with autosomal recessive PEO, followed by pseudo-orthostatic tremor evolving into levodopa-responsive parkinsonism.
18500570 Case Report: Alpers-Huttenlocher syndrome patient with normal biochemial analysis of oxidative phosphorylation system and POLG mutations.
18487244 Alpers syndrome patients with tissue depletion of mtDNA had at least one allele with mutation in the catalytic domain of POLG1.
18446447 Mutations in POLG, necessary for mtDNA biogenesis, increased risk for defective mtDNA replication, leading to LV hypertrophy.
18446310 Mutations in the POLG1 gene are not a relevant cause of cerebellar ataxia in Italy.
18321754 This study found the W748S mutation in a 65-year-old man with a late-onset syndrome consisting of ataxia, parkinsonism, ophthalmoplegia, peripheral neuropathy, and sensorineural hearing loss.
18316366 Data show that there were no differences in semen quality between groups with various POLG genotypes. There was a significant difference in frequency of the three CAG-repeat genotypes between ethnic subgroups.
18316366 Observational study of gene-disease association. (HuGE Navigator)
18294203 The W748S POLG1 mutation seems to lead to tissue-specific, partial mtDNA depletion in patients with juvenile-onset Alpers syndrome.
18270339 Observational study and meta-analysis of gene-disease association. (HuGE Navigator)
18238797 the A467T and W748S POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection. Epilepsy was present in 76% of all patients with these two mutations.
18195151 description of a family manifesting an autosomal recessive axonal sensorimotor neuropathy that dominated the clinical phenotype for more than 2 decades; this was due to compound heterozygous mutations in the POLG1 gene
18080848 mutations in a Southern Italian ataxia population
18062861 Meta-analysis of gene-disease association. (HuGE Navigator)
17923349 missense variants, c.248T > C (p.L83P), c.2662G > A (p.G888S) in POLG1 were detected in a 10-year-old Chinese girl with refractory seizures, acute liver failure after exposure to valproic acid, cortical blindness, and psychomotor regression
17894835 Neurological symptoms and signs were present in a number of carriers, but clearly defined neurological diseases did not segregate consistently with the W748S mutation.
17846414 Observational study of gene-disease association. (HuGE Navigator)
17846414 Our results suggest that POLG polyglutamine tract variants should be considered as a predisposing genetic factor in idiopathic sporadic Parkinson disease.
17725985 Mutation in DNA polymerase gamma is associated with progressive external ophthalmoplegia and parkinsonism
17711845 Study characterized the polymerase and exonuclease activities of mitochondrial DNA polymerase during reverse transcription; data suggest that the "reverse transcriptase activity" of mitochondrial polymerase could be physiologically relevant.
17650503 enzyme may use the alignment and prevention of fraying provided by proper hydrogen bonding and minor groove hydrogen bonding interactions as critical criteria for correct base pair recognition
17650502 sterics are necessary but not sufficient to achieve optimal efficiency and fidelity for DNA polymerase
17436221 Novel Pol gamma mutation could be associated with the severe lactic acidosis induced by long-term use of nucleoside reverse-transcriptase inhibitors.
17426723 data of ancestral haplotypes indicate that the POLG locus is quite stable and that the recessive W748S and A467T mutations, and probably also G848S, have occurred once in history.
17420318 Observational study of gene-disease association. (HuGE Navigator)
17420318 Both autosomal dominant progressive external ophthalmoplegia and parkinsonism caused by mutations that directly affect the polymerase domain of polymerase gamma
17339235 We have determined whether POLG and TFAM have functional roles in post-ejaculatory sperm mtDNA.
17310215 The transgenic model pathophysiologically links human mutant Pol gamma, mtDNA depletion, and mitochondrial oxidative stress to the mtDNA replication apparatus and to CM.
17300808 Observational study of genotype prevalence. (HuGE Navigator)
17300808 The mtDNA mutations A3243G, A8344G, T8993G, T8993C, or POLG1 W748S and A467T are very rare causes of adult-onset ataxia in Taiwan.
17209437 SNPs of POLG were studied among the population of Siberia.
17088268 For W748S-E1143G pol gamma, the benefits bestowed by E1143G include increased DNA binding and polymerase activity; however, E1143G was somewhat detrimental to protein stability.
17088268 Modulation of the W748S mutation in DNA polymerase gamma by the E1143G polymorphsim in mitochondrial disease
17005554 analysis of human mitochondrial DNA polymerase fidelity
17005553 analysis of replication and incorporation of 8-oxo-deoxyguanosine by the human mitochondrial DNA polymerase
16987890 Mitochondrial DNA polymerase-gamma and disease. Review.
16970152 Observational study of gene-disease association. (HuGE Navigator)
16957900 Failure to thrive, feeding difficulties, epilepsy, psychomotor developmental delay and hypotonia-the presentations in children with combined oxidative phosphorylation enzyme complex deficiencies carrying mutations in the polymerase gamma (POLG1) gene
16943369 Observational study of gene-disease association. (HuGE Navigator)
16943369 Our observations do not support a role for common POLG1 genetic variants in PD and indicate that dominant POLG1 mutations are a rare cause of parkinsonism in the general population.
16929381 the nuclear encoded DNA polymerase gamma (POLG) is a sole DNA polymerase responsible for replication and repair of the mitochondrial genome.
16896309 The results support the concept that deletions as well as depletion of mtDNA are involved in the pathogenesis of Alpers-Huttenlocher syndrome and add 3 new POLG1 mutations associated with an early-onset neurodegenerative disease.
16682683 Causative POLG1 mutations were identified in approximately 10% of progressive external ophthalmoplegia cases, with two unrelated individuals harboring a novel premature stop codon mutation (1356T>G).
16595552 POLG mutations can segregate with premaature ovarian failure and parkinsonism and demonstrates that the Y955C mutation can lead to mtDNA depletion.
16574152 shares a high level of structural similarity to class IIa aminoacyl tRNA synthetases, and forms a dimer in the crystal
16553026 Observational study of gene-disease association. (HuGE Navigator)
16553026 findings, in agreement with other studies from Italy and France, suggest that, at least in these countries, the POLG1 CAG-repeat polymorphisms do not contribute to oligozoospermia
16545482 A467T and W748S substitutions in POLG now constitutes the most rapid and sensitive test available for confirming the clinical diagnosis of Alpers syndrome.
16545482 Identification of five new POLG mutations in Alpers and summary of the A467T and W748S linker mutations as the most common mutations in Alpers syndrome
16490220 endogenous error mediated by DNA pol gamma constitutes the primary source of mitochondrial point mutations
16487403 Observational study of gene-disease association. (HuGE Navigator)
16487403 Non-normozoospermic men had twice as many nucleotide substitutions than normozoospermic men, however, there were no significant differences in the frequencies of nucleotide substitution and POLgamma genotypes in the two groups of men
16464011 Review of DNA polymerase gamma in mitochondrial DNA replication and repair and disease
16401742 POLG molecular defects were found in 25% of patients with multiple mtDNA deletions and mitochondrial disease in this study.
16392637 Observational study of genotype prevalence. (HuGE Navigator)
16392637 Human mitochondrial DNA polymerase, encoded by POLG, contains a polyglutamine tract encoded by a CAG microsatellite repeat
16327803 Dnaja3 is crucial for mitochondrial biogenesis through its chaperone activity on Polga and has a role in preventing dilated cardiomyopathy
16263719 the functional human holoenzyme contains two subunits of the processivity factor and one catalytic subunit, thereby forming a heterotrimer
16181814 The Alpers phenotype in this patient was a consequence of a single-copy gene dose of the A467T allele, and selective elimination of transcripts bearing the E873stop mutation.
16130100 POLG mutations associated with Alpers syndrome and mitochondrial DNA depletion.
16080118 Mitochondrial DNA polymerase-gamma W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin.
16024923 Reduced polymerase activity and loss of accessory subunit interaction are responsible for the depletion and deletion of mitochondrial DNA observed in patients with the A467T mutation in the POLG catalytic subunit.
15981013 We found Alzheimer pathology associated with POLG1 mutation, multiple mtDNA deletions, and APOE4/4 and progressive external ophthalmoplegia.
15929042 POLG mutations in four patients with hepatocerebral syndrome and mtDNA depletion in liver, who fulfilled criteria for Alpers syndrome
15694274 Observational study of gene-disease association. (HuGE Navigator)
15650046 Observational study of gene-disease association. (HuGE Navigator)
15650046 Under our conditions, our study does not confirm any relationship between the polymorphic CAG repeat in the POLG gene and male infertility.
15477547 The clinical spectrum of recessive POLG mutations is expanded by sensory ataxic neuropathy, combined with variable features of involvement of CNS and other organs.
15356024 Observational study of gene-disease association. (HuGE Navigator)
15351195 Cosegregation of parkinsonism and POLG mutations suggests that when defective, this gene can underlie mendelian transmission of parkinsonism.
15181541 a trinucleotide repeat has expanded from a shorter sequence present in the common ancestor of Old and New World monkeys
15181170 authors propose that replication stalling is the principal cause of deletion formation
14745080 2 new heterozygous missense transitions (C2794T, G3151C)were found in the POLG gene in a family with an autosomal recessive syndrome: progressive external ophthalmoplegia, polyneuropathy, ataxia, sensorineural hearing loss, and affective disorders.
14729924 effect of N2-deoxyguanosine and N6-deoxyadenosine adducts derived from BaP 7,8-diol 9,10-epoxide and dA adducts from benzo[c]phenanthrene 3,4-diol 1,2-epoxide on DNA replication by exonuclease-deficient human mitochondrial DNA polymerase
14694057 The authors report on a patient homozygous for a recessive missense mutation in POLG who presented with a multisystem disorder without progressive external ophthalmoplegia; the clinical picture overlapped with the MERRF syndrome
14688158 Observational study of genotype prevalence and gene-disease association. (HuGE Navigator)
14688158 The POLG gene polymorphism should be considered as a possible contributing factor in patients with unexplained subfertility and normal spermiograms.
12857740 human DNA polymerase gamma has roles as a reverse transcriptase and other RNA-associated catalytic activities involved in mitochondrial DNA replication
12686611 mtDNA polymerase POLG and various other as yet unidentified proteins copurify with mtDNA nucleoids
12645575 DNA polymerase-gamma has a role in regulating mitochondrial DNA
12565911 recessive POLG mutations in compound heterozygote patients with progressive external ophthalmoplegia presenting with sensory ataxic neuropathy
12210792 Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia.
12036482 Observational study of gene-environment interaction and pharmacogenomic / toxicogenomic. (HuGE Navigator)
11897778 Active site mutation in DNA polymerase gamma associated with progressive external ophthalmoplegia causes error-prone DNA synthesis
11687794 Observational study of gene-disease association. (HuGE Navigator)

AA Sequence

MSRLLWRKVAGATVGPGPVPAPGRWVSSSVPASDPSDGQRRRQQQQQQQQQQQQQPQQPQVLSSEGGQLR      1 - 70
HNPLDIQMLSRGLHEQIFGQGGEMPGEAAVRRSVEHLQKHGLWGQPAVPLPDVELRLPPLYGDNLDQHFR     71 - 140
LLAQKQSLPYLEAANLLLQAQLPPKPPAWAWAEGWTRYGPEGEAVPVAIPEERALVFDVEVCLAEGTCPT    141 - 210
LAVAISPSAWYSWCSQRLVEERYSWTSQLSPADLIPLEVPTGASSPTQRDWQEQLVVGHNVSFDRAHIRE    211 - 280
QYLIQGSRMRFLDTMSMHMAISGLSSFQRSLWIAAKQGKHKVQPPTKQGQKSQRKARRGPAISSWDWLDI    281 - 350
SSVNSLAEVHRLYVGGPPLEKEPRELFVKGTMKDIRENFQDLMQYCAQDVWATHEVFQQQLPLFLERCPH    351 - 420
PVTLAGMLEMGVSYLPVNQNWERYLAEAQGTYEELQREMKKSLMDLANDACQLLSGERYKEDPWLWDLEW    421 - 490
DLQEFKQKKAKKVKKEPATASKLPIEGAGAPGDPMDQEDLGPCSEEEEFQQDVMARACLQKLKGTTELLP    491 - 560
KRPQHLPGHPGWYRKLCPRLDDPAWTPGPSLLSLQMRVTPKLMALTWDGFPLHYSERHGWGYLVPGRRDN    561 - 630
LAKLPTGTTLESAGVVCPYRAIESLYRKHCLEQGKQQLMPQEAGLAEEFLLTDNSAIWQTVEELDYLEVE    631 - 700
AEAKMENLRAAVPGQPLALTARGGPKDTQPSYHHGNGPYNDVDIPGCWFFKLPHKDGNSCNVGSPFAKDF    701 - 770
LPKMEDGTLQAGPGGASGPRALEINKMISFWRNAHKRISSQMVVWLPRSALPRAVIRHPDYDEEGLYGAI    771 - 840
LPQVVTAGTITRRAVEPTWLTASNARPDRVGSELKAMVQAPPGYTLVGADVDSQELWIAAVLGDAHFAGM    841 - 910
HGCTAFGWMTLQGRKSRGTDLHSKTATTVGISREHAKIFNYGRIYGAGQPFAERLLMQFNHRLTQQEAAE    911 - 980
KAQQMYAATKGLRWYRLSDEGEWLVRELNLPVDRTEGGWISLQDLRKVQRETARKSQWKKWEVVAERAWK    981 - 1050
GGTESEMFNKLESIATSDIPRTPVLGCCISRALEPSAVQEEFMTSRVNWVVQSSAVDYLHLMLVAMKWLF   1051 - 1120
EEFAIDGRFCISIHDEVRYLVREEDRYRAALALQITNLLTRCMFAYKLGLNDLPQSVAFFSAVDIDRCLR   1121 - 1190
KEVTMDCKTPSNPTGMERRYGIPQGEALDIYQIIELTKGSLEKRSQPGP                        1191 - 1239
//

Text Mined References (245)

PMID Year Title
26942291 2016 PRICKLE2 Mutations Might Not Be Involved in Epilepsy.
26755490 2016 Characteristic brain MRI findings in ataxia-neuropathy spectrum related to POLG mutation.
26735972 2016 A Clinical, Neuropathological and Genetic Study of Homozygous A467T POLG-Related Mitochondrial Disease.
26496610 2015 A human interactome in three quantitative dimensions organized by stoichiometries and abundances.
26468652 2015 Mitochondrial DNA Polymerase POLG1 Disease Mutations and Germline Variants Promote Tumorigenic Properties.
26446790 2015 Mitochondrial Single-stranded DNA-binding Proteins Stimulate the Activity of DNA Polymerase ? by Organization of the Template DNA.
26335356 2015 The control of mitochondrial DNA replication during development and tumorigenesis.
26317126 2015 Searching for association of the CAG repeat polymorphism in the mitochondrial DNA polymerase gamma gene (POLG) with colorectal cancer.
26104464 2016 The spectrum of epilepsy caused by POLG mutations.
26095671 2015 The exonuclease activity of DNA polymerase ? is required for ligation during mitochondrial DNA replication.
26077851 2015 Yeast model analysis of novel polymerase gamma variants found in patients with autosomal recessive mitochondrial disease.
26056153 2015 Structural basis for processivity and antiviral drug toxicity in human mitochondrial DNA replicase.
25944712 2015 N-terminome analysis of the human mitochondrial proteome.
25724872 2015 Parkinsonism, cognitive deficit and behavioural disturbance caused by a novel mutation in the polymerase gamma gene.
25713120 2015 Teaching NeuroImages: hypertrophic olivary degeneration in a young man with POLG gene mutation.
25660390 2015 The in cis T251I and P587L POLG1 base changes: description of a new family and literature review.
25585994 2015 Evidence for polymerase gamma, POLG1 variation in reduced mitochondrial DNA copy number in Parkinson's disease.
25488682 2014 Co-occurrence of four nucleotide changes associated with an adult mitochondrial ataxia phenotype.
25378300 2014 Opposing roles of mitochondrial and nuclear PARP1 in the regulation of mitochondrial and nuclear DNA integrity: implications for the regulation of mitochondrial function.
25210026 2015 Status epilepticus caused by an unusual encephalopathy.
25118206 2015 A diagnostic flow chart for POLG-related diseases based on signs sensitivity and specificity.
25065347 2014 Acute liver failure after valproate exposure in patients with POLG1 mutations and the prognosis after liver transplantation.
24943079 2014 [Familial progressive external opthalmoplegia, parkinsonism and polyneuropathy associated with POLG1 mutation].
24841123 2014 Molecular pathogenesis of polymerase ?-related neurodegeneration.
24524965 2014 Mitochondrial DNA content contributes to healthy aging in Chinese: a study from nonagenarians and centenarians.
24508722 2014 Mapping 136 pathogenic mutations into functional modules in human DNA polymerase ? establishes predictive genotype-phenotype correlations for the complete spectrum of POLG syndromes.
24491464 2014 Rare POLG1 CAG variants do not influence Parkinson's disease or polymerase gamma function.
24398692 2014 Yeast cells expressing the human mitochondrial DNA polymerase reveal correlations between polymerase fidelity and human disease progression.
24122062 2013 Variations of mitochondrial DNA polymerase ? in patients with Parkinson's disease.
24067899 2014 RECQL4 and p53 potentiate the activity of polymerase ? and maintain the integrity of the human mitochondrial genome.
23962909 2013 Severe toxicity and polymerase-? gene abnormalities in Malawian adults on stavudine-based antiretroviral therapy.
23921535 2014 Quantitative multiplex PCR of short fluorescent fragments for the detection of large intragenic POLG rearrangements in a large French cohort.
23912752 2013 Mitochondrial DNA polymerase gamma gene polymorphism is not associated with male infertility.
23673011 2013 Neuromelanin MRI in a family with mitochondrial parkinsonism harboring a Y955C mutation in POLG1.
23625061 2013 Severe nigrostriatal degeneration without clinical parkinsonism in patients with polymerase gamma mutations.
23543747 2013 Translesion synthesis past acrolein-derived DNA adducts by human mitochondrial DNA polymerase ?.
23525847 2013 The clinical and audiologic features of hearing loss due to mitochondrial mutations.
23448099 2013 Prospective study of POLG mutations presenting in children with intractable epilepsy: prevalence and clinical features.
23446635 2013 Subnormal levels of POL?A cause inefficient initiation of light-strand DNA synthesis and lead to mitochondrial DNA deletions and progressive external ophthalmoplegia [corrected].
23376485 2013 Proteomic analysis of podocyte exosome-enriched fraction from normal human urine.
23251356 2012 Association of mitochondrial DNA polymerase ? gene POLG1 polymorphisms with parkinsonism in Chinese populations.
23250882 2012 What is influencing the phenotype of the common homozygous polymerase-? mutation p.Ala467Thr?
23208208 2013 Mutations in human DNA polymerase ? confer unique mechanisms of catalytic deficiency that mirror the disease severity in mitochondrial disorder patients.
23066759 2012 Febrile infection-related epilepsy syndrome (FIRES) is not caused by SCN1A, POLG, PCDH19 mutations or rare copy number variations.
22963882 2012 Number of CAG repeats in POLG1 and its association with Parkinson disease in the Norwegian population.
22729384 2013 Hypertrophic olivary degeneration on magnetic resonance imaging in mitochondrial syndromes associated with POLG and SURF1 mutations.
22728862 2012 Levator palpebrae biopsy and diagnosis of progressive external ophthalmoplegia.
22711370 2012 Screening for POLG W748S and A467T mutations in ataxia patients from Spain.
22684821 2013 Germline variants of base excision repair genes and breast cancer: A polymorphism in DNA polymerase gamma modifies gene expression and breast cancer risk.
22647225 2013 POLG mutations in Australian patients with mitochondrial disease.
22580846 2012 POLG and PEO1 (Twinkle) mutations are infrequent in PSP-like atypical parkinsonism: a preliminary screening study.
22577219 2012 Microangiopathy in the cerebellum of patients with mitochondrial DNA disease.
22552686 2012 POLG mutations and age at menopause.
22528963 2012 Characterizing POLG ataxia: clinics, electrophysiology and imaging.
22517274 2012 Evaluation of systemic redox states in patients carrying the MELAS A3243G mutation in mitochondrial DNA.
22334187 2012 POLG1 Arg953Cys mutation: expanded phenotype and recessive inheritance in a Brazilian family.
22276120 2012 CAG repeat variants in the POLG1 gene encoding mtDNA polymerase-gamma and risk of breast cancer in African-American women.
22267201 2012 Meta-analyses identify 13 loci associated with age at menopause and highlight DNA repair and immune pathways.
22194617 2012 Human mitochondrial DNA polymerase ? exhibits potential for bypass and mutagenesis at UV-induced cyclobutane thymine dimers.
22084276 2011 POLG-related disorders: defects of the nuclear and mitochondrial genome interaction.
22000311 2011 Alpers syndrome with mutations in POLG: clinical and investigative features.
21993618 2012 Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)-like phenotype: an expanded clinical spectrum of POLG1 mutations.
21953457 2011 Reduced stimulation of recombinant DNA polymerase ? and mitochondrial DNA (mtDNA) helicase by variants of mitochondrial single-stranded DNA-binding protein (mtSSB) correlates with defects in mtDNA replication in animal cells.
21880868 2011 Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum.
21856450 2011 Biochemical analysis of the G517V POLG variant reveals wild-type like activity.
21824913 2011 Clustering of Alpers disease mutations and catalytic defects in biochemical variants reveal new features of molecular mechanism of the human mitochondrial replicase, Pol ?.
21778232 2011 Ribonucleotide discrimination and reverse transcription by the human mitochondrial DNA polymerase.
21704543 2011 Partial status epilepticus - rapid genetic diagnosis of Alpers' disease.
21696159 2011 Effect of the Y955C mutation on mitochondrial DNA polymerase nucleotide incorporation efficiency and fidelity.
21670405 2011 Novel POLG splice site mutation and optic atrophy.
21550804 2011 Relative frequency of known causes of multiple mtDNA deletions: two novel POLG mutations.
21455106 2011 Drug-resistant epilepsia and fulminant valproate liver toxicity. Alpers-Huttenlocher syndrome in two children confirmed post mortem by identification of p.W748S mutation in POLG gene.
21357833 2011 POLG1 manifestations in childhood.
21228000 2011 Sequence-specific stalling of DNA polymerase ? and the effects of mutations causing progressive ophthalmoplegia.
21138766 2011 POLG mutations cause decreased mitochondrial DNA repopulation rates following induced depletion in human fibroblasts.
21102476 2011 CAG-repeat variant in the polymerase ? gene and male infertility in the Chinese population: a meta-analysis.
21038416 2010 Polymerase ? gene POLG determines the risk of sodium valproate-induced liver toxicity.
20927567 2011 Mitochondrial DNA replication and disease: insights from DNA polymerase ? mutations.
20883824 2011 Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model.
20877624 2010 Genetic variants in nuclear-encoded mitochondrial genes influence AIDS progression.
20843780 2011 Identification of rare DNA variants in mitochondrial disorders with improved array-based sequencing.
20826197 2010 Variations of the CAG trinucleotide repeat in DNA polymerase ? (POLG1) is associated with Parkinson's disease in Sweden.
20818731 2010 Polymerase gamma disease through the ages.
20818669 2010 Complex hyperkinetic movement disorders associated with POLG mutations.
20803511 2010 POLG, but not PEO1, is a frequent cause of cerebellar ataxia in Central Europe.
20800603 2010 Investigation of genetic susceptibility factors for human longevity - a targeted nonsynonymous SNP study.
20734064 2010 A large-scale candidate gene association study of age at menarche and age at natural menopause.
20701905 2010 Five mutations of mitochondrial DNA polymerase-gamma (POLG) are not a prevalent etiology for spontaneous 46,XX primary ovarian insufficiency.
20691285 2011 POLG exon 22 skipping induced by different mechanisms in two unrelated cases of Alpers syndrome.
20685647 2010 Role of histidine 932 of the human mitochondrial DNA polymerase in nucleotide discrimination and inherited disease.
20643228 2011 Mitochondrial DNA depletion and its correlation with TFAM, TFB1M, TFB2M and POLG in human diffusely infiltrating astrocytomas.
20601675 2010 A cluster of pathogenic mutations in the 3'-5' exonuclease domain of DNA polymerase gamma defines a novel module coupling DNA synthesis and degradation.
20558295 2010 The clinical diagnosis of POLG disease and other mitochondrial DNA depletion disorders.
20522537 2010 Variation within DNA repair pathway genes and risk of multiple sclerosis.
20513108 2010 Sensory ataxic neuropathy with dysarthria and ophthalmoparesis (SANDO) in late life due to compound heterozygous POLG mutations.
20438629 2010 POLG1 p.R722H mutation associated with multiple mtDNA deletions and a neurological phenotype.
20400524 2010 Localized cerebral energy failure in DNA polymerase gamma-associated encephalopathy syndromes.
20399836 2010 POLG1 polyglutamine tract variants associated with Parkinson's disease.
20220442 2010 Polymerase gamma 1 mutations: clinical correlations.
20198856 ["Genes for mitochondria" in arterial hypertension and left ventricular hypertrophy].
20181062 2010 Mitochondrial DNA haplogroups in early-onset Alzheimer's disease and frontotemporal lobar degeneration.
20176107 2010 Purification and functional characterization of human mitochondrial DNA polymerase gamma harboring disease mutations.
20153822 2010 Functional analysis of H. sapiens DNA polymerase gamma spacer mutation W748S with and without common variant E1143G.
20142534 2010 A novel POLG gene mutation in 4 children with Alpers-like hepatocerebral syndromes.
20138553 2010 POLG DNA testing as an emerging standard of care before instituting valproic acid therapy for pediatric seizure disorders.
19837034 2009 Structural insight into processive human mitochondrial DNA synthesis and disease-related polymerase mutations.
19815814 2010 Rare autosomal dominant POLG1 mutation in a family with metabolic strokes, posterior column spinal degeneration, and multi-endocrine disease.
19813183 2010 Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) in a sibling pair with a homozygous p.A467T POLG mutation.
19807024 [Different instability of microsatellite CAG repeat in two groups of haplotypes of the human mitochondrial gamma-DNA-polymerase gene].
19762913 2009 A variable neurodegenerative phenotype with polymerase gamma mutation.
19752458 2009 Ataxia with ophthalmoplegia or sensory neuropathy is frequently caused by POLG mutations.
19730927 2010 Epidemiology and characteristics of occipital brain infarcts in young adults in southwestern Finland.
19629138 2009 Mutations in mitochondrial DNA polymerase-gamma promote breast tumorigenesis.
19578034 2009 The unfolding clinical spectrum of POLG mutations.
19566497 2009 Mitochondrial DNA depletion in progressive external ophthalmoplegia caused by POLG1 mutations.
19501198 2009 De novo mutation in POLG leads to haplotype insufficiency and Alpers syndrome.
19478085 2009 Disease mutations in the human mitochondrial DNA polymerase thumb subdomain impart severe defects in mitochondrial DNA replication.
19435586 2009 Neuropsychological performance in patients with POLG1 mutations and the syndrome of mitochondrial spinocerebellar ataxia and epilepsy.
19425506 [Association of the T(-365)C POLG1, G(-25)A ANT1 and G(-605)T PEO1 gene polymorphisms with diabetic polyneuropathy in patients with type 1 diabetes mellitus].
19307547 2009 Fatal congenital myopathy and gastrointestinal pseudo-obstruction due to POLG1 mutations.
19275594 2009 Relationship between polymerase gamma (POLG) polymorphisms and antiretroviral therapy-induced lipodystrophy in HIV-1 infected patients: a case-control study.
19251978 2009 Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and children.
19243043 2009 No association between common POLG1 variants and sporadic idiopathic Parkinson's disease.
19237606 2009 Genetic polymorphisms in 85 DNA repair genes and bladder cancer risk.
19189930 2009 Phenotypic variations in 3 children with POLG1 mutations.
19054397 2009 Status epilepticus in children with Alpers' disease caused by POLG1 mutations: EEG and MRI features.
19043662 2008 Association between trinucleotide CAG repeats of the DNA polymerase gene (POLG) with age of onset of Iranian Friedreich's ataxia patients.
19010300 2009 DNA polymerase gamma and mitochondrial disease: understanding the consequence of POLG mutations.
18828154 2009 Analysis of mutant DNA polymerase gamma in patients with mitochondrial DNA depletion.
18798765 2009 CAG repeat variation in the mtDNA polymerase gamma is not associated with oligoasthenozoospermia.
18632724 2008 Association of the polymorphism of the CAG repeat in the mitochondrial DNA polymerase gamma gene (POLG) with testicular germ-cell cancer.
18585914 2008 Sensory ataxic neuropathy with ophthalmoparesis caused by POLG mutations.
18581472 2008 Palatal tremor and facial dyskinesia in a patient with POLG1 mutation.
18575922 2008 Novel Twinkle (PEO1) gene mutations in mendelian progressive external ophthalmoplegia.
18546365 2008 Molecular and clinical genetics of mitochondrial diseases due to POLG mutations.
18546343 2008 Apraxia of lid opening mimicking ptosis in compound heterozygosity for A467T and W748S POLG1 mutations.
18504126 2008 Additive effects of POLG1 and ANT1 mutations in a complex encephalomyopathy.
18502641 2008 Two novel POLG1 mutations in a patient with progressive external ophthalmoplegia, levodopa-responsive pseudo-orthostatic tremor and parkinsonism.
18500570 2008 Normal biochemical analysis of the oxidative phosphorylation (OXPHOS) system in a child with POLG mutations: a cautionary note.
18487244 2008 Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations.
18446447 2008 Cardiac-targeted transgenic mutant mitochondrial enzymes: mtDNA defects, antiretroviral toxicity and cardiomyopathy.
18446310 2008 Mutations in the POLG1 gene are not a relevant cause of cerebellar ataxia in Italy.
18321754 2008 Parkinsonism associated with the homozygous W748S mutation in the POLG1 gene.
18316366 2008 CAG repeat length variation in the polymerase gamma (POLG) gene: effect on semen quality.
18294203 2008 Homozygous W748S mutation in the POLG1 gene in patients with juvenile-onset Alpers syndrome and status epilepticus.
18270339 2008 Comprehensive analysis of DNA repair gene variants and risk of meningioma.
18238797 2008 POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection.
18195151 2008 POLG1 mutations manifesting as autosomal recessive axonal Charcot-Marie-Tooth disease.
18193045 2008 Common variants in the GDF5-UQCC region are associated with variation in human height.
18080848 2008 Screening for POLG1 mutations in a Southern Italian ataxia population.
18063578 2008 The layered structure of human mitochondrial DNA nucleoids.
18062861 2007 Gene polymorphisms and male infertility--a meta-analysis and literature review.
17923349 2008 Alpers syndrome with prominent white matter changes.
17894835 2007 Do carriers of POLG mutation W748S have disease manifestations?
17846414 2007 Mitochondrial DNA polymerase gamma variants in idiopathic sporadic Parkinson disease.
17762861 2007 The EM structure of human DNA polymerase gamma reveals a localized contact between the catalytic and accessory subunits.
17725985 2007 The DNA polymerase gamma Y955C disease variant associated with PEO and parkinsonism mediates the incorporation and translesion synthesis opposite 7,8-dihydro-8-oxo-2'-deoxyguanosine.
17711845 2007 Fidelity and processivity of reverse transcription by the human mitochondrial DNA polymerase.
17650503 2008 Base pair hydrogen bonds are essential for proofreading selectivity by the human mitochondrial DNA polymerase.
17650502 2008 Importance of hydrogen bonding for efficiency and specificity of the human mitochondrial DNA polymerase.
17436221 2007 Novel mutation of human DNA polymerase gamma associated with mitochondrial toxicity induced by anti-HIV treatment.
17426723 2007 Abundance of the POLG disease mutations in Europe, Australia, New Zealand, and the United States explained by single ancient European founders.
17420318 2007 Mutation of the linker region of the polymerase gamma-1 (POLG1) gene associated with progressive external ophthalmoplegia and Parkinsonism.
17339235 2007 The expression of polymerase gamma and mitochondrial transcription factor A and the regulation of mitochondrial DNA content in mature human sperm.
17310215 2007 Decreased mtDNA, oxidative stress, cardiomyopathy, and death from transgenic cardiac targeted human mutant polymerase gamma.
17300808 2007 Common mitochondrial DNA and POLG1 mutations are rare in the Chinese patients with adult-onset ataxia on Taiwan.
17209437 [Gene of mitochondrial DNA gamma-polymerase (POLG): frequency and linkage disequilibrium of two SNP's in Siberian populations].
17088268 2006 Modulation of the W748S mutation in DNA polymerase gamma by the E1143G polymorphismin mitochondrial disorders.
17005554 2006 Fidelity of the human mitochondrial DNA polymerase.
17005553 2006 Incorporation and replication of 8-oxo-deoxyguanosine by the human mitochondrial DNA polymerase.
16987890 2006 Mitochondrial DNA polymerase-gamma and human disease.
16970152 2006 [CAG repeats of DNA polymerase gamma in Chinese males and relationship of idiopathic male infertility to CAG repeats].
16957900 2007 Multiple oxidative phosphorylation deficiencies in severe childhood multi-system disorders due to polymerase gamma (POLG1) mutations.
16943369 2006 POLG1 in idiopathic Parkinson disease.
16929381 2006 Optimization of the Y831C mutation detection in human DNA polymerase gamma by allelic discrimination assay.
16919951 2006 SANDO: two novel mutations in POLG1 gene.
16896309 2006 POLG1 mutations associated with progressive encephalopathy in childhood.
16751776 2006 A germline-specific class of small RNAs binds mammalian Piwi proteins.
16682683 2006 POLG1, C10ORF2, and ANT1 mutations are uncommon in sporadic progressive external ophthalmoplegia with multiple mitochondrial DNA deletions.
16639411 2006 Molecular analysis of ANT1, TWINKLE and POLG in patients with multiple deletions or depletion of mitochondrial DNA by a dHPLC-based assay.
16634032 2006 Early-onset familial parkinsonism due to POLG mutations.
16621917 2006 Phenotypic spectrum associated with mutations of the mitochondrial polymerase gamma gene.
16595552 2006 Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase gamma.
16574152 2006 A novel processive mechanism for DNA synthesis revealed by structure, modeling and mutagenesis of the accessory subunit of human mitochondrial DNA polymerase.
16553026 2006 The polymorphic polyglutamine repeat in the mitochondrial DNA polymerase gamma gene is not associated with oligozoospermia.
16545482 2006 Molecular diagnosis of Alpers syndrome.
16490220 2006 Origins of human mitochondrial point mutations as DNA polymerase gamma-mediated errors.
16488880 2006 The human RNA surveillance factor UPF1 is required for S phase progression and genome stability.
16487403 2006 Molecular analysis of polymerase gamma gene and mitochondrial polymorphism in fertile and subfertile men.
16464011 2006 DNA polymerase gamma in mitochondrial DNA replication and repair.
16401742 2006 Association of novel POLG mutations and multiple mitochondrial DNA deletions with variable clinical phenotypes in a Spanish population.
16392637 2005 Low variability of the POLG (CAG)n repeat in north Eurasian populations.
16327803 2006 A crucial role of mitochondrial Hsp40 in preventing dilated cardiomyopathy.
16263719 2006 Functional human mitochondrial DNA polymerase gamma forms a heterotrimer.
16181814 2005 Mono-allelic POLG expression resulting from nonsense-mediated decay and alternative splicing in a patient with Alpers syndrome.
16130100 2005 POLG mutations associated with Alpers syndrome and mitochondrial DNA depletion.
16080118 2005 Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin.
16024923 2005 The common A467T mutation in the human mitochondrial DNA polymerase (POLG) compromises catalytic efficiency and interaction with the accessory subunit.
15981013 2005 Alzheimer pathology associated with POLG1 mutation, multiple mtDNA deletions, and APOE4/4: premature ageing or just coincidence?
15929042 2005 POLG mutations and Alpers syndrome.
15917273 2005 Functional defects due to spacer-region mutations of human mitochondrial DNA polymerase in a family with an ataxia-myopathy syndrome.
15824347 2005 Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations.
15694274 2005 Analysis of the trinucleotide CAG repeat from the DNA polymerase gamma gene (POLG) in patients with Parkinson's disease.
15689359 2005 Infantile hepatocerebral syndromes associated with mutations in the mitochondrial DNA polymerase-gammaA.
15650046 2005 Is the CAG repeat of mitochondrial DNA polymerase gamma (POLG) associated with male infertility? A multi-centre French study.
15534189 2004 A novel polymerase gamma mutation in a family with ophthalmoplegia, neuropathy, and Parkinsonism.
15489334 2004 The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC).
15477547 2004 POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement.
15356024 2004 The clinical significance of the POLG gene polymorphism in male infertility.
15351195 2004 Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study.
15349879 2004 Sequence analysis of familial PEO shows additional mutations associated with the 752C-->T and 3527C-->T changes in the POLG1 gene.
15181541 2004 A prevalent POLG CAG microsatellite length allele in humans and African great apes.
15181170 2004 Twinkle and POLG defects enhance age-dependent accumulation of mutations in the control region of mtDNA.
15177179 2004 Aphidicolin-resistant and -sensitive base excision repair in wild-type and DNA polymerase beta-defective mouse cells.
15164064 2004 Premature ageing in mice expressing defective mitochondrial DNA polymerase.
15122711 2004 POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion.
14745080 2004 POLG mutations causing ophthalmoplegia, sensorimotor polyneuropathy, ataxia, and deafness.
14739292 2004 DNA and RNA binding by the mitochondrial lon protease is regulated by nucleotide and protein substrate.
14729924 2004 Nucleotide incorporation by human DNA polymerase gamma opposite benzo[a]pyrene and benzo[c]phenanthrene diol epoxide adducts of deoxyguanosine and deoxyadenosine.
14694057 2003 Patient homozygous for a recessive POLG mutation presents with features of MERRF.
14688158 2004 Frequent polymorphism of the mitochondrial DNA polymerase gamma gene (POLG) in patients with normal spermiograms and unexplained subfertility.
14635118 2003 POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions.
12975295 2003 Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase gamma.
12872260 2003 Digenic progressive external ophthalmoplegia in a sporadic patient: recessive mutations in POLG and C10orf2/Twinkle.
12857740 2003 Characterization of novel reverse transcriptase and other RNA-associated catalytic activities by human DNA polymerase gamma: importance in mitochondrial DNA replication.
12825077 2003 Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy.
12707443 2003 Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO).
12686611 2003 Composition and dynamics of human mitochondrial nucleoids.
12645575 2003 Inducible expression of a dominant negative DNA polymerase-gamma depletes mitochondrial DNA and produces a rho0 phenotype.
12565911 2003 Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia.
12477932 2002 Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences.
12210792 2002 Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia.
12144777 2002 Crystal structure of human renal dipeptidase involved in beta-lactam hydrolysis.
12036482 2002 Lack of correlation between length variation in the DNA polymerase gamma gene CAG repeat and lactic acidosis or neuropathy during antiretroviral treatment.
11897778 2002 Active site mutation in DNA polymerase gamma associated with progressive external ophthalmoplegia causes error-prone DNA synthesis.
11756592 2001 ANT1, Twinkle, POLG, and TP: new genes open our eyes to ophthalmoplegia.
11687794 2001 Mutations at the mitochondrial DNA polymerase (POLG) locus associated with male infertility.
11431686 2001 Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions.
10827171 2000 In vivo functional analysis of the human mitochondrial DNA polymerase POLG expressed in cultured human cells.
9742236 1998 mtDNA replicative potential remains constant during ageing: polymerase gamma activity does not correlate with age related cytochrome oxidase activity decline in platelets.
9465903 1997 Localization by fluorescence in situ hybridization (FISH) of human mitochondrial polymerase gamma (POLG) to human chromosome band 15q24-->q26, and of mouse mitochondrial polymerase gamma (Polg) to mouse chromosome band 7E, with confirmation by direct sequence analysis of bacterial artificial chromosomes (BACs).
9119411 1997 A PAC containing the human mitochondrial DNA polymerase gamma gene (POLG) maps to chromosome 15q25.
9034326 1997 Mitochondrial DNA polymerases from yeast to man: a new family of polymerases.
8884268 1996 Cloning and characterization of the human mitochondrial DNA polymerase, DNA polymerase gamma.
3619920 1987 Evidence for a direct role of the DNA polymerase gamma in the replication of the human mitochondrial DNA in vitro.