POLG

Summary

Gene Symbol: POLG
Description: DNA polymerase gamma, catalytic subunit
Alias: MDP1, MIRAS, MTDPS4A, MTDPS4B, PEO, POLG1, POLGA, SANDO, SCAE, DNA polymerase subunit gamma-1, PolG-alpha, mitochondrial DNA polymerase catalytic subunit, polymerase (DNA directed), gamma, polymerase (DNA) gamma, catalytic subunit, truncated mitochondrial DNA polymerase gamma catalytic subunit
Species: human

Top Publications

  1. ncbi Premature ageing in mice expressing defective mitochondrial DNA polymerase
    Aleksandra Trifunovic
    Department of Medical Nutrition, Karolinska Institutet, Novum, Karolinska University Hospital, S 141 86 Stockholm, Sweden
    Nature 429:417-23. 2004
  2. ncbi POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement
    G Van Goethem
    Division of Neurology and the Neuromuscular Reference Center, University Hospital, Antwerpen, Belgium
    Neurology 63:1251-7. 2004
  3. pmc 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
    Maria A Graziewicz
    Laboratory of Molecular Genetics, National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, NC 27709, USA
    Hum Mol Genet 16:2729-39. 2007
  4. pmc Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations
    Neil Ashley
    Nuffield Department of Obstetrics and Gynaecology, University of Oxford, The Women s Centre, John Radcliffe Hospital, Oxford OX3 9DU, UK
    Hum Mol Genet 17:2496-506. 2008
  5. ncbi Mono-allelic POLG expression resulting from nonsense-mediated decay and alternative splicing in a patient with Alpers syndrome
    Sherine S L Chan
    Laboratory of Molecular Genetics, National Institute of Environmental Health Sciences, National Institute of Health, Research Triangle Park, NC 27709, USA
    DNA Repair (Amst) 4:1381-9. 2005
  6. pmc POLG DNA testing as an emerging standard of care before instituting valproic acid therapy for pediatric seizure disorders
    Russell P Saneto
    Division of Pediatric Neurology, Seattle Children s Hospital University of Washington, Seattle, WA 98105, USA
    Seizure 19:140-6. 2010
  7. ncbi Relationship between polymerase gamma (POLG) polymorphisms and antiretroviral therapy-induced lipodystrophy in HIV-1 infected patients: a case-control study
    Franck Chiappini
    AP HP, Hopital Paul Brousse, Service de Biochimie et de Biologie Moléculaire, Université Paris 11, 12, avenue Paul Vaillant Couturier, Villejuif Cedex, France
    Curr HIV Res 7:244-53. 2009
  8. ncbi Abundance of the POLG disease mutations in Europe, Australia, New Zealand, and the United States explained by single ancient European founders
    Anna H Hakonen
    Research Program of Molecular Neurology, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland
    Eur J Hum Genet 15:779-83. 2007
  9. doi A cluster of pathogenic mutations in the 3'-5' exonuclease domain of DNA polymerase gamma defines a novel module coupling DNA synthesis and degradation
    Karolina Szczepanowska
    Institute of Life Sciences, Croix du Sud 4 15, Universite Catholique de Louvain, Louvain la Neuve, Belgium
    Hum Mol Genet 19:3516-29. 2010
  10. pmc Mitochondrial DNA replication and disease: insights from DNA polymerase γ mutations
    Jeffrey D Stumpf
    Laboratory of Molecular Genetics, National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, NC 27709, USA
    Cell Mol Life Sci 68:219-33. 2011

Research Grants

  1. A MOUSE MODEL OF ALPERS SYNDROME
    ROBERT NAVIAUX; Fiscal Year: 2007
  2. Fully Biodegradable Polymersome-encapsulated Hemoglobin as a Novel Nanoparticle-b
    PAIMAN PETER GHOROGHCHIAN; Fiscal Year: 2010
  3. Integrin Targeted Therapy for the Treatment of Ovarian Cancer
    FRANK CALZONE; Fiscal Year: 2013
  4. Surface Modified Polymers for Tissue Engineering
    Robert Ward; Fiscal Year: 2003
  5. Kinetics of DNA polymerase gamma upon mutation and nucleoside analog exposure
    CHRISTAL DYANE SOHL; Fiscal Year: 2013
  6. Mitophagy-driven selection against heteroplasmic mitochondrial DNA mutations
    David K Simon; Fiscal Year: 2012
  7. Keshav K Singh; Fiscal Year: 2014
  8. LAURA XIAOFEI ROSE LIU; Fiscal Year: 2014
  9. David K Simon; Fiscal Year: 2014
  10. Mechanisms of Protection in the Brain by Physical Exercise in Polg Mutator Mice
    David K Simon; Fiscal Year: 2013

Detail Information

Publications214 found, 100 shown here

  1. ncbi Premature ageing in mice expressing defective mitochondrial DNA polymerase
    Aleksandra Trifunovic
    Department of Medical Nutrition, Karolinska Institutet, Novum, Karolinska University Hospital, S 141 86 Stockholm, Sweden
    Nature 429:417-23. 2004
    ..question experimentally by creating homozygous knock-in mice that express a proof-reading-deficient version of PolgA, the nucleus-encoded catalytic subunit of mtDNA polymerase...
  2. ncbi POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement
    G Van Goethem
    Division of Neurology and the Neuromuscular Reference Center, University Hospital, Antwerpen, Belgium
    Neurology 63:1251-7. 2004
    To identify POLG mutations in patients with sensory ataxia and CNS features.
  3. pmc 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
    Maria A Graziewicz
    Laboratory of Molecular Genetics, National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, NC 27709, USA
    Hum Mol Genet 16:2729-39. 2007
    Mitochondrial DNA is replicated and repaired by DNA polymerase gamma (pol gamma), encoded by the POLG gene. The Y955C substitution in POLG leads to autosomal dominant progressive external ophthalmoplegia (PEO) with other severe phenotypes...
  4. pmc Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations
    Neil Ashley
    Nuffield Department of Obstetrics and Gynaecology, University of Oxford, The Women s Centre, John Radcliffe Hospital, Oxford OX3 9DU, UK
    Hum Mol Genet 17:2496-506. 2008
    ..of 24 children with mutations in the catalytic (alpha) subunit of the mitochondrial DNA (mtDNA) gamma polymerase (POLG1)...
  5. ncbi Mono-allelic POLG expression resulting from nonsense-mediated decay and alternative splicing in a patient with Alpers syndrome
    Sherine S L Chan
    Laboratory of Molecular Genetics, National Institute of Environmental Health Sciences, National Institute of Health, Research Triangle Park, NC 27709, USA
    DNA Repair (Amst) 4:1381-9. 2005
    ..This syndrome has been associated with mutations in POLG, the gene encoding the mitochondrial DNA polymerase (pol gamma)...
  6. pmc POLG DNA testing as an emerging standard of care before instituting valproic acid therapy for pediatric seizure disorders
    Russell P Saneto
    Division of Pediatric Neurology, Seattle Children s Hospital University of Washington, Seattle, WA 98105, USA
    Seizure 19:140-6. 2010
    To review our clinical experience and determine if there are appropriate signs and symptoms to consider POLG sequencing prior to valproic acid (VPA) dosing in patients with seizures.
  7. ncbi Relationship between polymerase gamma (POLG) polymorphisms and antiretroviral therapy-induced lipodystrophy in HIV-1 infected patients: a case-control study
    Franck Chiappini
    AP HP, Hopital Paul Brousse, Service de Biochimie et de Biologie Moléculaire, Université Paris 11, 12, avenue Paul Vaillant Couturier, Villejuif Cedex, France
    Curr HIV Res 7:244-53. 2009
    ..contribute to severe mitochondrial toxicity including lipodystrophy, through the inhibition of polymerase gamma (POLG). Polymorphisms of POLG could explain the variation in mitochondrial toxicity in HIV-1-infected patients...
  8. ncbi Abundance of the POLG disease mutations in Europe, Australia, New Zealand, and the United States explained by single ancient European founders
    Anna H Hakonen
    Research Program of Molecular Neurology, Biomedicum Helsinki, University of Helsinki, Helsinki, Finland
    Eur J Hum Genet 15:779-83. 2007
    ..that the DNA polymerase gamma (POLG) W748S mutation, a common cause of mitochondrial recessive ataxia syndrome (MIRAS), has a common ancient founder for all the disease chromosomes in Finland, Norway, United Kingdom, and Belgium...
  9. doi A cluster of pathogenic mutations in the 3'-5' exonuclease domain of DNA polymerase gamma defines a novel module coupling DNA synthesis and degradation
    Karolina Szczepanowska
    Institute of Life Sciences, Croix du Sud 4 15, Universite Catholique de Louvain, Louvain la Neuve, Belgium
    Hum Mol Genet 19:3516-29. 2010
    ....
  10. pmc Mitochondrial DNA replication and disease: insights from DNA polymerase γ mutations
    Jeffrey D Stumpf
    Laboratory of Molecular Genetics, National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, NC 27709, USA
    Cell Mol Life Sci 68:219-33. 2011
    DNA polymerase γ (pol γ), encoded by POLG, is responsible for replicating human mitochondrial DNA...
  11. ncbi Parkinsonism, premature menopause, and mitochondrial DNA polymerase gamma mutations: clinical and molecular genetic study
    Petri Luoma
    Department of Neurology and Programme of Neurosciences, Biomedicum Helsinki, Helsinki University, and Helsinki University Central Hospital, Helsinki, Finland
    Lancet 364:875-82. 2004
    Mutations in the gene encoding mitochondrial DNA polymerase gamma (POLG), the enzyme that synthesises mitochondrial DNA (mtDNA), have been associated with a mitochondrial disease-autosomal dominant or recessive progressive external ..
  12. pmc Decreased mtDNA, oxidative stress, cardiomyopathy, and death from transgenic cardiac targeted human mutant polymerase gamma
    William Lewis
    Department of Pathology, Emory University School of Medicine, Atlanta, GA 30322, USA
    Lab Invest 87:326-35. 2007
    b>POLG is the human gene that encodes the catalytic subunit of DNA polymerase gamma (Pol gamma), the replicase for human mitochondrial DNA (mtDNA)...
  13. ncbi Mitochondrial DNA polymerase gamma variants in idiopathic sporadic Parkinson disease
    P T Luoma
    Research Program of Molecular Neurology, Biomedicum Helsinki, Helsinki University, Helsinki, Finland
    Neurology 69:1152-9. 2007
    ..of parkinsonism, mitochondrial myopathy, and premature amenorrhea in five ethnically distinct families with POLG1 mutations...
  14. pmc DNA polymerase gamma and mitochondrial disease: understanding the consequence of POLG mutations
    Sherine S L Chan
    National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, NC 27709, USA
    Biochim Biophys Acta 1787:312-9. 2009
    ..Over 160 coding variations in the gene encoding the catalytic subunit of DNA polymerase gamma (POLG) have been identified...
  15. doi Novel POLG1 mutations associated with neuromuscular and liver phenotypes in adults and children
    J D Stewart
    Mitochondrial Research Group, The Medical School, Newcastle University, Framlington Place, Newcastle upon Tyne, NE2 4HH, UK
    J Med Genet 46:209-14. 2009
    The POLG1 gene encodes the catalytic subunit of DNA polymerase gamma, essential for mitochondrial DNA replication and repair...
  16. pmc A novel POLG gene mutation in 4 children with Alpers-like hepatocerebral syndromes
    Bulent Kurt
    Columbia University College of Physicians and Surgeons, 630 W 168th Street, New York, NY 10032, USA
    Arch Neurol 67:239-44. 2010
    To describe a novel POLG missense mutation (c.3218C>T; p.P1073L) that, in association with 2 previously described mutations, caused an Alpers-like hepatocerebral syndrome in 4 children.
  17. doi POLG1 mutations cause a syndromic epilepsy with occipital lobe predilection
    Bernt A Engelsen
    Institute of Clinical Medicine, University of Bergen, Haukeland University Hospital, Bergen, Norway
    Brain 131:818-28. 2008
    The epileptic semiology of 19 patients (from 15 families) with mitochondrial disease due to mutations in the POLG1 gene is presented. The patients were either homozygous for the 1399G > A (p.A467T) or 2243G > C (p...
  18. doi Association of the polymorphism of the CAG repeat in the mitochondrial DNA polymerase gamma gene (POLG) with testicular germ-cell cancer
    M Blomberg Jensen
    Department of Growth and Reproduction, Rigshospitalet, Blegdamsvej, Copenhagen, Denmark
    Ann Oncol 19:1910-4. 2008
    A possible association between the polymorphic CAG repeat in the DNA polymerase gamma (POLG) gene and the risk of testicular germ-cell tumours (TGCT) was investigated in this study...
  19. pmc Disease mutations in the human mitochondrial DNA polymerase thumb subdomain impart severe defects in mitochondrial DNA replication
    Rajesh Kasiviswanathan
    Laboratory of Molecular Genetics, NIEHS, National Institutes of Health, Research Triangle Park, North Carolina 27709, USA
    J Biol Chem 284:19501-10. 2009
    Forty-five different point mutations in POLG, the gene encoding the catalytic subunit of the human mitochondrial DNA polymerase (pol gamma), cause the early onset mitochondrial DNA depletion disorder, Alpers syndrome...
  20. ncbi In vivo functional analysis of the human mitochondrial DNA polymerase POLG expressed in cultured human cells
    J N Spelbrink
    Institute of Medical Technology and Tampere University Hospital, University of Tampere, 33101 Tampere, Finland
    J Biol Chem 275:24818-28. 2000
    The human gene POLG encodes the catalytic subunit of mitochondrial DNA polymerase, but its precise roles in mtDNA metabolism in vivo have not hitherto been documented...
  21. ncbi Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions
    G Van Goethem
    Department of Molecular Genetics, Flanders Interuniversity Institute for Biotechnology, Born Bunge Foundation, University of Antwerp, Universiteitsplein 1 B 2610 Antwerpen, Belgium
    Nat Genet 28:211-2. 2001
    ..pedigree and identified a heterozygous mutation (Y955C) in the polymerase motif B of the mtDNA polymerase gamma (POLG). We identified three additional POLG missense mutations compatible with recessive PEO In two nuclear families...
  22. ncbi Mutations at the mitochondrial DNA polymerase (POLG) locus associated with male infertility
    A T Rovio
    Ancobio Ltd, Glasgow, Scotland
    Nat Genet 29:261-2. 2001
    Human mitochondrial DNA polymerase, encoded by POLG, contains a polyglutamine tract encoded by a CAG microsatellite repeat...
  23. ncbi Lack of correlation between length variation in the DNA polymerase gamma gene CAG repeat and lactic acidosis or neuropathy during antiretroviral treatment
    Xianghong Chen
    Department of Human Retrovirology, Academic Medical Center, University of Amsterdam, 1105 AZ Amsterdam, The Netherlands
    AIDS Res Hum Retroviruses 18:531-4. 2002
    ..To investigate whether CAG repeat expansion or mutations in the DNA polymerase gamma (POLG) gene could predispose to peripheral neuropathy or lactic acidosis, we have sequenced part of the second exon of ..
  24. ncbi Mutations of mitochondrial DNA polymerase gammaA are a frequent cause of autosomal dominant or recessive progressive external ophthalmoplegia
    Eleonora Lamantea
    Unit of Molecular Neurogenetics Pierfranco and Luisa Mariani Center for the Study of Children s Mitochondrial Disorders, National Neurological Institute C Besta, Milan, Italy
    Ann Neurol 52:211-9. 2002
    ..external ophthalmoplegia with multiple mitochondrial DNA deletions recently has been associated with mutations in POLG1, the gene encoding pol gammaA, the catalytic subunit of mitochondrial DNA polymerase...
  25. ncbi Recessive POLG mutations presenting with sensory and ataxic neuropathy in compound heterozygote patients with progressive external ophthalmoplegia
    G Van Goethem
    Neuromuscular Reference Center, University Hospital of Antwerp UZA, Antwerpen, Belgium
    Neuromuscul Disord 13:133-42. 2003
    ..ataxic neuropathy and has the clinical triad of sensory ataxic neuropathy, dysarthria and ophthalmoparesis (SANDO)...
  26. ncbi Mutations of ANT1, Twinkle, and POLG1 in sporadic progressive external ophthalmoplegia (PEO)
    A Agostino
    Unit of Molecular Neurogenetics, Pierfranco and Luisa Mariani Center for the Study of Children s Mitochondrial Disorders, National Neurological Institute Carlo Besta, Milan, Italy
    Neurology 60:1354-6. 2003
    To verify the impact of mutations in ANT1, Twinkle, and POLG1 genes in sporadic progressive external ophthalmoplegia associated with multiple mitochondrial DNA (mtDNA) deletions, DNA samples from 15 Italian and 12 British patients were ..
  27. ncbi Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase gamma
    Massimiliano Filosto
    Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY 10032, USA
    Arch Neurol 60:1279-84. 2003
    ..translocator; chromosome 10 open reading frame 2 (C10orf2), encoding Twinkle helicase; and polymerase gamma (POLG), encoding the alpha subunit of polymerase gamma...
  28. ncbi Frequent polymorphism of the mitochondrial DNA polymerase gamma gene (POLG) in patients with normal spermiograms and unexplained subfertility
    Martin Jensen
    Department of Growth and Reproduction, Copenhagen University Hospital Rigshospitalet, DK 2100 Copenhagen, Denmark
    Hum Reprod 19:65-70. 2004
    ..In this study, we explored a possible role of the polymerase gamma (POLG) gene polymorphism, recently reported to be associated with male infertility in some populations.
  29. pmc Twinkle and POLG defects enhance age-dependent accumulation of mutations in the control region of mtDNA
    Sjoerd Wanrooij
    Institute of Medical Technology and Tampere University Hospital, Tampere, Finland
    Nucleic Acids Res 32:3053-64. 2004
    ..genes, encoding the adenine nucleotide translocator 1, the mitochondrial helicase Twinkle or DNA polymerase gamma (POLG)...
  30. ncbi A novel polymerase gamma mutation in a family with ophthalmoplegia, neuropathy, and Parkinsonism
    Michelangelo Mancuso
    Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY, USA
    Arch Neurol 61:1777-9. 2004
    ..Extrapyramidal signs have been rarely described...
  31. ncbi Autosomal recessive mitochondrial ataxic syndrome due to mitochondrial polymerase gamma mutations
    S Winterthun
    Department of Neurology, Haukeland University Hospital, University of Bergen, Norway
    Neurology 64:1204-8. 2005
    ..To investigate three families and one sporadic case with a recessively inherited ataxic syndrome...
  32. ncbi POLG mutations and Alpers syndrome
    Guido Davidzon
    Department of Neurology, Columbia University College of Physicians and Surgeons, New York, NY 10032, USA
    Ann Neurol 57:921-3. 2005
    ..early onset, has been associated with mitochondrial DNA (mtDNA) depletion and mutations in polymerase gamma gene (POLG)...
  33. ncbi Alzheimer pathology associated with POLG1 mutation, multiple mtDNA deletions, and APOE4/4: premature ageing or just coincidence?
    Atle Melberg
    Acta Neuropathol 110:315-6. 2005
  34. ncbi The common A467T mutation in the human mitochondrial DNA polymerase (POLG) compromises catalytic efficiency and interaction with the accessory subunit
    Sherine S L Chan
    Laboratory of Molecular Genetics, NIEHS, National Institutes of Health, Research Triangle Park, North Carolina 27709, USA
    J Biol Chem 280:31341-6. 2005
    Among the nearly 50 disease mutations in the gene for the catalytic subunit of human DNA polymerase gamma, POLG, the A467T substitution is the most common and has been found in 0.6% of the Belgian population...
  35. pmc Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin
    Anna H Hakonen
    Research Program of Neurosciences, Biomedicum Helsinki, Helsinki, Finland
    Am J Hum Genet 77:430-41. 2005
    ..We identified 27 patients with mitochondrial recessive ataxia syndrome (MIRAS) from 15 Finnish families, with a carrier frequency in the general population of 1 : 125...
  36. ncbi POLG mutations associated with Alpers syndrome and mitochondrial DNA depletion
    Robert K Naviaux
    Ann Neurol 58:491. 2005
  37. ncbi Functional human mitochondrial DNA polymerase gamma forms a heterotrimer
    Elena Yakubovskaya
    Department of Pharmacological Sciences and Center for Structural Biology, State University of New York, Stony Brook, New York 11794 8651, USA
    J Biol Chem 281:374-82. 2006
    ..The structure of pol gamma seems to be variable, ranging from a single catalytic subunit in yeast to a heterodimer in Drosophila and a heterotrimer in mammals...
  38. ncbi Association of novel POLG mutations and multiple mitochondrial DNA deletions with variable clinical phenotypes in a Spanish population
    Emiliano Gonzalez-Vioque
    Departamento de Bioquimica, Instituto de Investigaciones Biomedicas Alberto Sols CSIC UAM, Universidad Autonoma de Madrid, Hospital Universitario 12 de Octubre, Spain
    Arch Neurol 63:107-11. 2006
    ..Both dominant and recessive mutations were reported in the gene encoding the mitochondrial (mt) DNA polymerase gamma (POLG) in patients with progressive external ophthalmoplegia (PEO)...
  39. ncbi DNA polymerase gamma in mitochondrial DNA replication and repair
    Maria A Graziewicz
    Laboratory of Molecular Genetics, National Institute of Environmental Health Sciences, Research Triangle Park, North Carolina 27709, USA
    Chem Rev 106:383-405. 2006
  40. ncbi Molecular diagnosis of Alpers syndrome
    Khue V Nguyen
    Department of Medicine, University of California, San Diego School of Medicine, 214 Dickinson Street, Bldg CTF, Rm C 103, San Diego, CA 92103 8467, USA
    J Hepatol 45:108-16. 2006
    ..Mutations in the gene for the mitochondrial DNA polymerase (POLG) have recently been shown to cause this disorder.
  41. pmc A novel processive mechanism for DNA synthesis revealed by structure, modeling and mutagenesis of the accessory subunit of human mitochondrial DNA polymerase
    Li Fan
    Life Sciences Division, Lawrence Berkeley National Laboratory, Berkeley, CA 94720, USA Department of Molecular Biology, The Scripps Research Institute, La Jolla, CA 92034, USA
    J Mol Biol 358:1229-43. 2006
    ....
  42. ncbi Dominant inheritance of premature ovarian failure associated with mutant mitochondrial DNA polymerase gamma
    Alistair T Pagnamenta
    Biochemistry, Endocrinology and Metabolism Unit, Institute of Child Health, London, WC1N 1EH, UK
    Hum Reprod 21:2467-73. 2006
    ..Recently, mutations in the catalytic subunit of mitochondrial DNA polymerase gamma (POLG) were shown to segregate with POF in families with progressive external ophthalmoplegia (PEO) and multiple large-..
  43. ncbi POLG1 mutations associated with progressive encephalopathy in childhood
    Gittan Kollberg
    Department of Pathology, Sahlgrenska University Hospital, Goteborg, Sweden
    J Neuropathol Exp Neurol 65:758-68. 2006
    We have identified compound heterozygous missense mutations in POLG1, encoding the mitochondrial DNA polymerase gamma (Pol gamma), in 7 children with progressive encephalopathy from 5 unrelated families...
  44. ncbi POLG1 in idiopathic Parkinson disease
    W Tiangyou
    Department of Neurology, University of Newcastle upon Tyne, UK
    Neurology 67:1698-700. 2006
    We studied POLG1 in 140 UK patients with idiopathic Parkinson disease (PD) and 279 Italian patients with PD and compared them to a UK control group (n = 207) and an Italian control group (n = 285)...
  45. ncbi Mitochondrial DNA polymerase-gamma and human disease
    Gavin Hudson
    Mitochondrial Research Group and Institute of Human Genetics, M41014, The Medical School, Framlington Place, Newcastle upon Tyne NE2 4HH, UK
    Hum Mol Genet 15:R244-52. 2006
    ..of mitochondrial DNA (mtDNA) is critically dependent upon polymerase-gamma (pol-gamma), encoded by the nuclear gene POLG. Over the last 5 years, it has become clear that mutations of POLG are a major cause of human disease...
  46. pmc Modulation of the W748S mutation in DNA polymerase gamma by the E1143G polymorphismin mitochondrial disorders
    Sherine S L Chan
    Laboratory of Molecular Genetics, National Institute of Environmental Health Sciences, National Institutes of Health, Research Triangle Park, NC 27709, USA
    Hum Mol Genet 15:3473-83. 2006
    DNA polymerase gamma (pol gamma) is required for replication and repair of mitochondrial DNA. Over 80 mutations in POLG, the gene encoding the catalytic subunit of pol gamma, have been linked with disease...
  47. ncbi Mutation of the linker region of the polymerase gamma-1 (POLG1) gene associated with progressive external ophthalmoplegia and Parkinsonism
    Gavin Hudson
    Mitochondrial Research Group, University of Newcastle upon Tyne, United Kingdom
    Arch Neurol 64:553-7. 2007
    ..To define the molecular basis of the autosomal dominant progressive external ophthalmoplegia and parkinsonism in a large family with a dominantly transmitted multiple mitochondrial DNA deletion disorder...
  48. pmc Importance of hydrogen bonding for efficiency and specificity of the human mitochondrial DNA polymerase
    Harold R Lee
    Department of Chemistry and Biochemistry, Institute of Cellular and Molecular Biology, University of Texas, Austin, TX 78712, USA
    J Biol Chem 283:14402-10. 2008
    ..Base pair hydrogen bonding contributes at least a third of the energy underlying nucleoside incorporation efficiency and specificity...
  49. pmc Base pair hydrogen bonds are essential for proofreading selectivity by the human mitochondrial DNA polymerase
    Harold R Lee
    Department of Chemistry and Biochemistry, Institute of Cellular and Molecular Biology, University of Texas, Austin, TX 78712, USA
    J Biol Chem 283:14411-6. 2008
    ..The 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...
  50. doi Homozygous W748S mutation in the POLG1 gene in patients with juvenile-onset Alpers syndrome and status epilepticus
    Johanna Uusimaa
    Department of Pediatrics, University of Oulu, Oulu, Finland
    Epilepsia 49:1038-45. 2008
    ..Numerous mutations in the POLG1 gene have been detected recently in patients with various phenotypes including a classic infantile-onset Alpers-..
  51. doi Parkinsonism associated with the homozygous W748S mutation in the POLG1 gene
    A M Remes
    Department of Neurology, University of Oulu, Box 5000, FIN 90014, Oulu, Finland
    Parkinsonism Relat Disord 14:652-4. 2008
    Parkinsonism has been described in patients with mutations in POLG1 gene...
  52. doi Additive effects of POLG1 and ANT1 mutations in a complex encephalomyopathy
    Giuliana Galassi
    Department of Neuroscience, University of Modena, Modena, Italy
    Neuromuscul Disord 18:465-70. 2008
    ..or recessive progressive external ophthalmoplegia (PEO) to juvenile-onset spino-cerebellar ataxia and epilepsy (SCAE) or infantile Alpers-Huttenlocher syndrome...
  53. pmc Molecular and clinical genetics of mitochondrial diseases due to POLG mutations
    Lee Jun C Wong
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
    Hum Mutat 29:E150-72. 2008
    Mutations in the POLG gene have emerged as one of the most common causes of inherited mitochondrial disease in children and adults...
  54. doi Analysis of mutant DNA polymerase gamma in patients with mitochondrial DNA depletion
    Jan Willem Taanman
    Department of Clinical Neurosciences, Institute of Neurology, University College London, London, United Kingdom
    Hum Mutat 30:248-54. 2009
    ..were compound heterozygous for missense mutations in the gene for the catalytic subunit of DNA polymerase gamma (POLG). Three of the identified mutations, c.3328C>T (p.H1110Y), c.3401A>G (p.H1134R), and c.3406G>A (p...
  55. doi Association between trinucleotide CAG repeats of the DNA polymerase gene (POLG) with age of onset of Iranian Friedreich's ataxia patients
    Mohammad Mehdi Heidari
    Dept of Genetic, Science School, Tarbiat Modares University TMU, Tehran, Iran
    Neurol Sci 29:489-93. 2008
    ..As mitochondrial DNA (mtDNA) copy number has been decreased in FRDA cells and mtDNA polymerase (POLG) is involved in the replication of mtDNA, we searched a trinucleotide CAG repeat length of this enzyme...
  56. doi Status epilepticus in children with Alpers' disease caused by POLG1 mutations: EEG and MRI features
    Nicole I Wolf
    Pediatric Neurology, University Children s Hospital, Heidelberg, Germany
    Epilepsia 50:1596-607. 2009
    ..Metabolic disorders frequently underlie this condition, in particular Alpers' disease caused by POLG1 mutations. Status epilepticus may be the first symptom...
  57. pmc De novo mutation in POLG leads to haplotype insufficiency and Alpers syndrome
    Sherine S L Chan
    Laboratory of Molecular Genetics, National Institute of Environmental Health Sciences, National Institute of Health, Research Triangle Park, NC 27709, USA
    Mitochondrion 9:340-5. 2009
    Mutations in POLG are a major contributor to pediatric and adult mitochondrial diseases. However, the consequences of many POLG mutations are not well understood...
  58. doi The unfolding clinical spectrum of POLG mutations
    M J Blok
    Department of Clinical Genetics, Maastricht University Medical Centre, PO Box 5800, 6202 AZ Maastricht, The Netherlands
    J Med Genet 46:776-85. 2009
    Mutations in the DNA polymerase-gamma (POLG) gene are a major cause of clinically heterogeneous mitochondrial diseases, associated with mtDNA depletion and multiple deletions.
  59. pmc Mutations in mitochondrial DNA polymerase-gamma promote breast tumorigenesis
    Keshav K Singh
    Department of Cancer Genetics, Roswell Park Cancer Institute, Buffalo, NY 14263, USA
    J Hum Genet 54:516-24. 2009
    ..Polymerase-gamma (POLG) is the only DNA polymerase known to function in human mitochondria...
  60. doi Sensory ataxic neuropathy dysarthria and ophthalmoparesis (SANDO) in a sibling pair with a homozygous p.A467T POLG mutation
    John C McHugh
    Department of Neurology, St Vincent s University Hospital, Dublin, Ireland
    Muscle Nerve 41:265-9. 2010
    ..A467T mutation of the polymerase gamma (POLG) gene. The clinical course in both subjects was progression to severe disability...
  61. doi Rare autosomal dominant POLG1 mutation in a family with metabolic strokes, posterior column spinal degeneration, and multi-endocrine disease
    Sarah E Hopkins
    Divisions of Neurology, Cincinnati Children s Hospital Medical Center, and Pathology University of Cincinnati, Ohio, USA
    J Child Neurol 25:752-6. 2010
    ..Depending on the location and inheritance, mutations in POLG1, the catalytic subunit, can cause symptoms including severe infantile epilepsy, metabolic strokes, chronic ataxia, ..
  62. pmc Structural insight into processive human mitochondrial DNA synthesis and disease-related polymerase mutations
    Young Sam Lee
    Institute for Cellular and Molecular Biology, University of Texas at Austin, Austin, TX 78712, USA
    Cell 139:312-24. 2009
    ....
  63. pmc Functional analysis of H. sapiens DNA polymerase gamma spacer mutation W748S with and without common variant E1143G
    Eino J H Palin
    Research Program of Molecular Neurology, Biomedicum Helsinki, r C523B, University of Helsinki, Haartmaninkatu 8, 00290 Helsinki, Finland
    Biochim Biophys Acta 1802:545-51. 2010
    ..In humans, POLGalpha W748S in cis with an E1143G mutation has been linked to a new type of recessive ataxia, MIRAS, which is the most common inherited ataxia in Finland...
  64. pmc POLG1 polyglutamine tract variants associated with Parkinson's disease
    Johanna Eerola
    Department of Neurology, Helsinki University Central Hospital, FIN 00290 Helsinki, Finland
    Neurosci Lett 477:1-5. 2010
    A possible role of allelic variation of the mitochondrial DNA polymerase gamma (POLG1) gene in Parkinson's disease (PD) has been suggested...
  65. doi Localized cerebral energy failure in DNA polymerase gamma-associated encephalopathy syndromes
    Charalampos Tzoulis
    Department of Neurology, Haukeland University Hospital, 5021 Bergen, Norway
    Brain 133:1428-37. 2010
    ..We suggest therefore that both infantile and later onset polymerase gamma related encephalopathies are part of a continuum...
  66. doi The clinical diagnosis of POLG disease and other mitochondrial DNA depletion disorders
    Bruce H Cohen
    Neurological Institute, Brain Tumor and Neuro Oncology Center, Pediatric Neurology Center, Desk S 63, 9500 Euclid Avenue, Cleveland Clinic, USA
    Methods 51:364-73. 2010
    ..as germline mutations in the nuclear genes responsible for mtDNA duplication (the polymerase apparatus including POLG, POLG2 and PEO1) and mtDNA maintenance (those genes that regulate the deoxynucleotide triphosphate pools and other ..
  67. doi Predicting the contribution of novel POLG mutations to human disease through analysis in yeast model
    Enrico Baruffini
    Department of Genetics, University of Parma, Parma, Italy
    Mitochondrion 11:182-90. 2011
    ..Finally, a significant rescue of extended mutability has been observed for several dominant mutations by treatment with mitochondrial antioxidants...
  68. doi Sequence-specific stalling of DNA polymerase γ and the effects of mutations causing progressive ophthalmoplegia
    Neli Atanassova
    Division of Metabolic Diseases, Karolinska Institutet, Solna, SE 17177 Stockholm, Sweden
    Hum Mol Genet 20:1212-23. 2011
    ..Our data may also explain why mutations that disturb dATP pools can be especially deleterious for mtDNA synthesis...
  69. doi POLG1 manifestations in childhood
    P Isohanni
    University of Helsinki, Helsinki, Finland
    Neurology 76:811-5. 2011
    ..manifest as Alpers syndrome, whereas in adults, a common manifestation is mitochondrial recessive ataxia syndrome (MIRAS) with severe epilepsy...
  70. pmc Clustering of Alpers disease mutations and catalytic defects in biochemical variants reveal new features of molecular mechanism of the human mitochondrial replicase, Pol γ
    Liliya Euro
    Research Programs Unit, Molecular Neurology, Biomedicum Helsinki, University of Helsinki, Haartmaninkatu 8, 00290 Helsinki, Finland
    Nucleic Acids Res 39:9072-84. 2011
    ..represent nearly half of those reported to date, and they are nearly uniformly distributed along the length of the POLG1 gene (Human DNA Polymerase gamma Mutation Database); the majority of them are linked to the most severe form of ..
  71. doi Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum
    Sha Tang
    Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
    J Med Genet 48:669-81. 2011
    Mutations in the POLG gene have emerged as one of the most common causes of inherited mitochondrial diseases in children and adults...
  72. doi POLG mutations in Australian patients with mitochondrial disease
    P Woodbridge
    Department of Neurogenetics, Kolling Institute of Medical Research and University of Sydney, Sydney, Australia
    Intern Med J 43:150-6. 2013
    The nuclear POLG gene encodes the catalytic subunit of DNA polymerase gamma (polγ), the only polymerase involved in the replication and proofreading of mitochondrial DNA...
  73. doi Number of CAG repeats in POLG1 and its association with Parkinson disease in the Norwegian population
    Novin Balafkan
    Department of Clinical Medicine, University of Bergen, Bergen, Norway
    Mitochondrion 12:640-3. 2012
    The number of CAG repeats in the mitochondrial DNA-polymerase gamma (POLG1) gene has been associated with Parkinson disease (PD) in some populations...
  74. doi Severe nigrostriatal degeneration without clinical parkinsonism in patients with polymerase gamma mutations
    Charalampos Tzoulis
    Department of Neurology, Haukeland University Hospital, Bergen, Norway
    Brain 136:2393-404. 2013
    ..The additional presence of both thalamic and cerebellar dysfunction in our patients suggested that these may play a role in counteracting the effects of basal ganglia dysfunction and prevent the development of clinical parkinsonism. ..
  75. ncbi POLG mutations associated with Alpers' syndrome and mitochondrial DNA depletion
    Robert K Naviaux
    Department of Medicine, Mitochondrial and Metabolic Disease Center, University of California, San Diego School of Medicine, San Diego, CA 92103 8467, USA
    Ann Neurol 55:706-12. 2004
    ..mitochondrial DNA depletion disorder characterized by deficiency in mitochondrial DNA polymerase gamma (POLG) catalytic activity, refractory seizures, neurodegeneration, and liver disease...
  76. pmc The EM structure of human DNA polymerase gamma reveals a localized contact between the catalytic and accessory subunits
    Elena Yakubovskaya
    Department of Pharmacological Sciences, State University of New York at Stony Brook, Stony Brook, NY 11794 8651, USA
    EMBO J 26:4283-91. 2007
    ..A model for pol gamma is discussed that considers the effects of known mutations in the accessory subunit and the interaction of the enzyme with DNA...
  77. ncbi Do carriers of POLG mutation W748S have disease manifestations?
    M Rantamaki
    Department of Physical Medicine and Rehabilitation, Seinajoki Central Hospital, Seinajoki, Finland
    Clin Genet 72:532-7. 2007
    Mitochondrial recessive ataxia syndrome (MIRAS) is a common cause of autosomal recessive juvenile- or adult-onset ataxia, at least in Scandinavia. MIRAS patients are homozygous or compound heterozygous for POLG mutations W748S and A467T...
  78. doi Variations of the CAG trinucleotide repeat in DNA polymerase γ (POLG1) is associated with Parkinson's disease in Sweden
    Anna Anvret
    Department of Neuroscience, Karolinska Institutet, 171 77 Stockholm, Sweden
    Neurosci Lett 485:117-20. 2010
    DNA polymerase gamma (POLG1) is coding for the catalytic subunit of the heterotrimeric mitochondrial DNA polymerase and involved in replication and repair of mitochondrial DNA...
  79. doi Alpers syndrome with mutations in POLG: clinical and investigative features
    Matthew F Hunter
    Genetic Health, Victorian Clinical Genetics Service, Melbourne, Victoria, Australia
    Pediatr Neurol 45:311-8. 2011
    ..Three common polymerase-γ mutations, in patients of European descent, can assist with rapid diagnosis, circumventing the need for liver biopsy...
  80. doi Polymerase gamma 1 mutations: clinical correlations
    Margherita Milone
    Department of Neurology, Mayo Clinic, Rochester, MN 55902, USA
    Neurologist 16:84-91. 2010
    ..b>POLG1 is a nuclear gene which encodes for the catalytic subunit of the mtDNA polymerase gamma, essential for mtDNA ..
  81. ncbi Aqueous two-phase systems containing self-associating block copolymers. Partitioning of hydrophilic and hydrophobic biomolecules
    M Svensson
    Department of Physical Chemistry 1, Lund University, Sweden
    J Chromatogr A 839:71-83. 1999
    ..The Pluronic molecule is a triblock copolymer of the type PEO-PPO-PEO, where PEO and PPO are poly(ethylene oxide) and poly(propylene oxide), respectively...
  82. doi Excision of nucleoside analogs in mitochondria by p53 protein
    Mary Bakhanashvili
    Infectious Diseases Unit, Sheba Medical Center, Tel Hashomer 52621, Israel
    AIDS 23:779-88. 2009
    ..In the present study, we investigated the ability of p53 to excise incorporated nucleoside analogs from DNA in mitochondria...
  83. ncbi Investigation of gene expressions related to cholesterol metabolism in rats fed diets enriched in n-6 or n-3 fatty acid with a cholesterol after long-term feeding using quantitative-competitive RT-PCR analysis
    M Fukushima
    Department of Bioresource Science, Obihiro University of Agriculture and Veterinary Medicine, Hokkaido, Japan
    J Nutr Sci Vitaminol (Tokyo) 47:228-35. 2001
    ..Rats (8 wk of age) fed a conventional diet were shifted to diets containing 10% perilla oil (PEO, oleic acid+linoleic acid+alpha-linolenic acid), borage oil (BRO, oleic acid+linoleic acid+gamma-linolenic acid), ..
  84. ncbi Mitochondrial DNA polymerase gamma is essential for mammalian embryogenesis
    Nicole Hance
    Department of Medical Nutrition at Novum, Karolinska Institute, Stockholm, Sweden
    Hum Mol Genet 14:1775-83. 2005
    Mitochondrial DNA (mtDNA) polymerase gamma (Polg) is a heterodimeric enzyme containing a Pol I-like catalytic core (PolgA) and an accessory subunit...
  85. ncbi Simultaneous quantitative trace analysis of anionic and nonionic surfactant mixtures by reversed-phase liquid chromatography
    F I Portet
    , , UPRES EA 2659, IRCOF et IFRMP, Evreux, France
    J Chromatogr A 878:99-113. 2000
    The aim of this work was to simultaneously analyse mixtures of a polydisperse polyethylene oxide (PEO) nonionic surfactant and an anionic surfactant (sodium dodecylsulphate, SDS) in water containing sodium chloride in order to quantify ..
  86. ncbi Optimizing separation conditions for polycyclic aromatic hydrocarbons in micellar electrokinetic chromatography
    M M Hsieh
    Department of Chemistry, National Taiwan University, Taipei
    J Chromatogr A 924:397-405. 2001
    We report the separation of polycyclic aromatic hydrocarbons (PAHs) using 0.1% poly(ethylene oxide) (PEO) in micellar electrokinetic chromatography (MEKC)...
  87. ncbi Effect of glycerol-induced DNA conformational change on the separation of DNA fragments by capillary electrophoresis
    D Liang
    Department of Chemistry, State University of New York at Stony Brook, 11794-3400, USA
    J Chromatogr A 931:163-73. 2001
    ..of adding glycerol to the running buffer was studied using linear polyacrylamide (LPA) or poly(ethylene oxide) (PEO) as separation medium...
  88. ncbi Regulation of electroosmotic flow and electrophoretic mobility of proteins for concentration without desalting
    W L Tseng
    Department of Chemistry, National Taiwan University, Taipei
    J Chromatogr A 924:93-101. 2001
    Proteins were concentrated and separated in 0.6% poly(ethylene oxide) (PEO) solution using a capillary filled with Tris-borate (TB) buffer prior to analysis and detected by laser-induced native fluorescence using a pulsed Nd:YAG laser...
  89. ncbi Mutations in DNA polymerase gamma cause error prone DNA synthesis in human mitochondrial disorders
    William C Copeland
    Laboratory of Molecular Genetics, National Institute of Environmental Health Sciences, Research Triangle Park, North Carolina 27709, USA
    Acta Biochim Pol 50:155-67. 2003
    ..Progressive external ophthalmoplegia (PEO) is a rare disease characterized by the accumulation of large deletions in mitochondrial DNA...
  90. ncbi POLG mutations in sporadic mitochondrial disorders with multiple mtDNA deletions
    Alessio Di Fonzo
    Centro Dino Ferrari, Dipartimento di Scienze Neurologiche, Universita degli Studi di Milano, I R C C S Ospedale Maggiore Policlinico and Centro di Eccellenza per le Malattie Neurodegenerative, Milano, Italy
    Hum Mutat 22:498-9. 2003
    ..for these disorders: ANT1 and C10orf2 cause autosomal dominant PEO, while mutations of DNA polymerase gammaA (POLG1 or POLG) gene on chromosome 15q25 causes both autosomal dominant and recessive forms of PEO...
  91. pmc mip1 containing mutations associated with mitochondrial disease causes mutagenesis and depletion of mtDNA in Saccharomyces cerevisiae
    Jeffrey D Stumpf
    Laboratory of Molecular Genetics, National Institute of Environmental Health Sciences, National Institutes ofHealth, Research, Triangle Park, NC 27709, USA
    Hum Mol Genet 19:2123-33. 2010
    ..Over 150 mutations in POLG (which encodes pol gamma) have been discovered in patients with mitochondrial disorders including Alpers, ..
  92. ncbi Analysis of large-volume DNA markers and polymerase chain reaction products by capillary electrophoresis in the presence of electroosmotic flow
    W L Tseng
    Department of Chemistry, National Taiwan University, Taipei
    J Chromatogr A 927:179-90. 2001
    ..concentration and separation of DNA in the presence of electroosmotic flow (EOF) using poly(ethylene oxide) (PEO) solutions...
  93. ncbi Comparison of impact of the different hydrophilic carriers on the properties of piperazine-containing drug
    M O Ahmed
    Department of Industrial Pharmacy, Faculty of Pharmacy, Assiut University, Assiut, Egypt
    Eur J Pharm Biopharm 51:221-5. 2001
    ..POE) sorbitan fatty acid esters (polysorbates), POE fatty acid esters (Myrjs) and polyethylene oxide (PEO) fatty alcohol ethers (Brijs and Eumulgins)...
  94. ncbi Effects of diets enriched in n-6 or n-3 fatty acids on cholesterol metabolism in older rats chronically fed a cholesterol-enriched diet
    M Fukushima
    Department of Bioresource Science, Obihiro University of Agriculture and Veterinary Medicine, Obihiro, Hokkaido 080 8555, Japan
    Lipids 36:261-6. 2001
    ..Therefore, aged rats (24 wk of age) fed a conventional diet were shifted to diets containing 10% perilla oil [PEO; oleic acid + linoleic acid + alpha-linolenic acid; n-6/n-3, 0...
  95. pmc Magnesium treatment for patients with refractory status epilepticus due to POLG1-mutations
    Nora A Visser
    Rudolf Magnus Institute of Neuroscience, Department of Neurology, University Medical Centre Utrecht, PO Box 85500, 3508 GA, Utrecht, The Netherlands
    J Neurol 258:218-22. 2011
    Mutations in the gene encoding of the catalytic subunit of mtDNA polymerase gamma (POLG1) can cause typical Alpers' syndrome. Recently, a new POLG1 mutation phenotype was described, the so-called juvenile-onset Alpers' syndrome...
  96. ncbi Fibronectin adsorpton kinetics on phase segregated polyurethaneureas
    W G Pitt
    Department of Chemical Engineering, Brigham Young University, Provo, UT 84602
    J Biomater Sci Polym Ed 4:337-46. 1993
    ..had soft blocks composed of polydimethylsiloxane (PDMS), polytetramethyleneoxide (PTMO), and polyethyleneoxide (PEO)...
  97. ncbi Effect of ionic strength, pH and polymer concentration on the separation of DNA fragments in the presence of electroosmotic flow
    W L Tseng
    Department of Chemistry, National Taiwan University, Taipei
    J Chromatogr A 894:219-30. 2000
    DNA separations in the presence of electroosmotic flow (EOF) using poly(ethylene oxide) (PEO) solutions have been demonstrated...
  98. doi Polymerase gamma disease through the ages
    Russell P Saneto
    Division of Pediatric Neurology, Seattle Children s Hospital University of Washington, 4800 Sand Point Way NE, Seattle, WA 98105, USA
    Dev Disabil Res Rev 16:163-74. 2010
    ..group of mitochondrial disease is due to mutations within the mitochondrial DNA polymerase, polymerase gamma 1 (POLG). This gene product is responsible for replication and repair of the small mitochondrial DNA genome...
  99. pmc Mitochondrial DNA polymerase editing mutation, PolgD257A, reduces the diabetic phenotype of Akita male mice by suppressing appetite
    Raymond Fox
    Department of Pathology and Laboratory Medicine, University of North Carolina, Chapel Hill, NC 27599, USA
    Proc Natl Acad Sci U S A 108:8779-84. 2011
    ..diabetogenic mutation (Akita) with mice homozygous for the D257A mutation in mitochondrial DNA polymerase gamma (Polg) or with mice having both mutations (Polg-Akita)...
  100. ncbi Stepwise capillary electrophoretic separation of DNA fragments using poly(ethylene oxide) solutions in the presence of electroosmotic flow
    H S Chen
    Department of Chemistry, National Taiwan University, Taipei, Taiwan
    J Chromatogr A 853:337-47. 1999
    ..of DNA markers V and VI was achieved in the presence of electroosmotic flow (EOF), using poly(ethylene oxide) (PEO) solutions containing ethidium bromide (EtB) under isocratic conditions...
  101. ncbi Interactions between fenoprofen sodium and poly (ethylene oxide)
    T Rades
    University of Otago, Dunedin, New Zealand
    Eur J Pharm Biopharm 46:51-9. 1998
    ..fenoprofen sodium (FNa) in solution below and above its critical micelle concentration with poly (ethylene oxide) (PEO) of different chain length (PEO 400 to PEO 20000) and between a liquid crystalline formulation of fenoprofen (FLC; ..

Research Grants74

  1. A MOUSE MODEL OF ALPERS SYNDROME
    ROBERT NAVIAUX; Fiscal Year: 2007
    ..It is characterized by mutations in the catalytic subunit of the mitochondrial DNA polymerase gamma (POLG)...
  2. Fully Biodegradable Polymersome-encapsulated Hemoglobin as a Novel Nanoparticle-b
    PAIMAN PETER GHOROGHCHIAN; Fiscal Year: 2010
    ..The lead NanoHeme formulation comprises of a diblock copolymer comprising hydrophilic polyethylene oxide (PEO) and hydrophobic polycaprolactone (PCL)...
  3. Integrin Targeted Therapy for the Treatment of Ovarian Cancer
    FRANK CALZONE; Fiscal Year: 2013
    ..vicrostatin (VCN), a recombinant protein, impregnated in a carboxymethyl cellulose (CMC) and polyethylene oxide (PEO) gel approved for human use in Europe and Australia for prevention of post-surgical adhesions...
  4. Surface Modified Polymers for Tissue Engineering
    Robert Ward; Fiscal Year: 2003
    ..will include three 'passive' SMEs with decreasing hydrophobicity; fluorocarbon, silicone and polyethyleneoxide (PEO), an SME that binds heparin, and a PEO SME that covalently bind peptides...
  5. Kinetics of DNA polymerase gamma upon mutation and nucleoside analog exposure
    CHRISTAL DYANE SOHL; Fiscal Year: 2013
    ....
  6. Mitophagy-driven selection against heteroplasmic mitochondrial DNA mutations
    David K Simon; Fiscal Year: 2012
    ..resource in our laboratory is the "mutator" mouse that expresses a proofreading deficient mtDNA polymerase 3 (Polg) leading to accumulation with age of heteroplasmic somatic mtDNA mutations in association with a premature aging ..
  7. Keshav K Singh; Fiscal Year: 2014
    ..Our preliminary data suggest that mutations in nuclear gene encoding mitochondrial DNA polymerase gamma (POLG1) induce depletion of mtDNA and increase tumorigenic potential of cancer cells in vitro...
  8. LAURA XIAOFEI ROSE LIU; Fiscal Year: 2014
    ..was found to strongly attenuate the accelerated cardiac aging phenotypes of a mitochondrial DNA mutator mouse (PolG), a model that exhibited grossly abnormal aging phenotypes, including cardiac hypertrophy, heart failure and ..
  9. David K Simon; Fiscal Year: 2014
    ..the UOx gene, which elevates urate levels, will reduce the accumulation of somatic mtDNA mutations in the brain in Polg "mutator" mice expressing a proofreading-deficient mtDNA polymerase gamma (PolgD257A) and will attenuate the ..
  10. Mechanisms of Protection in the Brain by Physical Exercise in Polg Mutator Mice
    David K Simon; Fiscal Year: 2013
    ..Recently, exercise also has been shown to have a dramatic protective effect in Polg "mutator" mice expressing a proofreading deficient form of the mitochondrial DNA (mtDNA) polymerase [unreadable] (..
  11. Studies of toxicities of HIV RT inhibitors to human mitochondrial DNA polymerase
    YUHUI WHITNEY YIN; Fiscal Year: 2012
    ..The results of the study will not only increase our understanding of mitochondrial DNA replication, but also will be invaluable to aid design of high potency and low toxic anti- HIV reagents. ..
  12. Bradykinin, Nitric Oxide and Mitochondrial DNA Damage in Diabetic Complications
    Oliver Smithies; Fiscal Year: 2010
    ....
  13. NEW BIODEGRADABLE POLYMERS FOR PROTEIN DRUG DELIVERY
    Sung Wan Kim; Fiscal Year: 1999
    ..The synthesized polymers are polyethylene oxide (PEO)/polylactic acid (PLA) and PEO/polycaprolactone (PCL) star-shaped block copolymers...
  14. Mitochondrial DNA Mutations and the Aging Process
    Tomas Prolla; Fiscal Year: 2007
    ..model was generated by introducing a specific mutation in the exonuclease domain of mouse DNA Polymerase Gamma (POLG) in ES cells...
  15. Mitochondrial DNA Polymerase Structure and Function
    DANIEL BOGENHAGEN; Fiscal Year: 2005
    ..We will test the hypothesis that the nucleic acid binding properties of pol gammaB help to direct the polymerase to sites of replication initiation. ..
  16. AIDS: AZT TOXICITY AND MITOCHONDRIAL DNA REPLICATION
    MELVIN SIMPSON; Fiscal Year: 1993
    ....
  17. Mitochondrial DNA in Human Aging
    Shaharyar Khan; Fiscal Year: 2003
    ..production of specialized short hairpin loop RNAs that catalyze the degradation of the mitochondrial polymerase (PolG) RNA within cells, leading to a functional knockout of PolG, and a modified mitochondrial genome containing the ..
  18. CLINICAL STUDIES OF MITOCHONDRIAL DISEASE
    DONALD JOHNS; Fiscal Year: 2004
    ..We identified a novel mitochondrial disease, Sensory Ataxic Neuropathy, Dysarthria, and Ophthalmoplegia (SANDO), which is associated with multiple mitochondrial DNA (mtDNA) deletions...
  19. ARTIFICIAL POLYMERIC LIPOPROTEINS AS DRUG CARRIERS
    GLEN KWON; Fiscal Year: 2002
    ..Poly(ethylene oxide)-block-poly(L amino acid) (PEO-b-PLAA) self-assembles into micelles, supramolecular core/shell structures, which mimic lipoproteins...
  20. PAUL CAMILLE TUMEH; Fiscal Year: 2015
    ..The antigen/adjuvant co-delivery NPS comprised entirely of an amphiphilic diblock copolymer poly(ethylene oxide) (PEO) and polycaprolactone (PCL), will penetrate the stratum corneum to reach the vital epidermis and induce an antigen ..
  21. POLYURETHANE-UREA PRIMARY REFERENCE MATERIALS
    Kathleen White; Fiscal Year: 1993
    ..program involves the synthesis of a batch of additive-free PTMO based polyurethaneurea and a batch of additive-free PEO based polyurethaneurea followed by thorough characterization of the bulk and surface properties of cast films...
  22. MICELLAR CARRIERS FOR SPARINGLY SOLUBLE PHARMACEUTICALS
    Vladimir Torchilin; Fiscal Year: 2002
    ..Based on our preliminary experiments with new highly stable micelles prepared from diacyllipidpolyethyleneoxide (PEO) conjugates, our hypothesis is that lipid-PEO-based micelles (or micelles prepared from lipid conjugates with other ..
  23. Magnetomicelle Nanoparticles for Triggered Drug Delivery
    T Taton; Fiscal Year: 2006
    ..nanoparticles with high magnetocrystalline anisotropies will be encapsulated within crosslinked polyacrylate-PEO 'stealth' micelles, along with hydrophobic drugs...
  24. Let-7 miRNA control of heart development
    Cathy J Hatcher; Fiscal Year: 2010
    ..let-7 mature miRNA expression in both chick and mouse embryonic hearts and in the chick proepicardial organ (PEO)...
  25. Peter Schwindt; Fiscal Year: 2015
    ..temporal resolution, but its potential as a research and clinical tool has yet to be realized on a large scae due to its high acquisition and operating costs...
  26. Nucleoside Transporters In HAART Mitochondrial Toxicity
    John Buolamwini; Fiscal Year: 2006
    ..abstract_text> ..
  27. Novel Star-PDMS/PEO Hydrogel Scaffolds with Tunable Properties for TEVG
    Mariah Hahn; Fiscal Year: 2009
    ..We propose the development of novel PDMSstar-PEO hydrogels with tunable material properties to enable the systematic evaluation of scaffold property impact on SMC ..
  28. OVERALL HEMOCOMPATIBILITY PEO-FUNCTIONALIZED SILOXANES
    William Collins; Fiscal Year: 2001
    ..of an exciting family of biomaterials, polydimethylsiloxanes end-functionalized with poly(ethylene oxide) (PEO siloxanes), to further such design...
  29. OVERALL HEMOCOMPATIBILITY PEO-FUNCTIONALIZED SILOXANES
    William Collins; Fiscal Year: 2003
    ..of an exciting family of biomaterials, polydimethylsiloxanes end-functionalized with poly(ethylene oxide) (PEO siloxanes), to further such design...
  30. LONG-CIRCULATING TUMOR-SELECTIVE DNA DELIVERY SYSTEMS
    Mansoor Amiji; Fiscal Year: 2005
    ..circulation, long-circulating poly (ethylene glycol)-grafted (PEGylated) gelatin and poly (ethylene oxide) (PEO)-modified poly (beta-amino ester) nanoparticles will be taken up by the tumor mass due to the enhanced permeability ..
  31. HISTOPATHOLOGY OF TEMPORAL BONES
    Isamu Sando; Fiscal Year: 2000
    ..b>Sando and colleagues have developed a unique technique for harvesting the temporal bone and entire ET-ME system as a ..
  32. NRTI-induced Mitochondrial Cardiomyopathy
    Kendall Wallace; Fiscal Year: 2006
    ..However, these drugs are also recognized by host cell DNA polymerases including Polg, which is responsible for replicating the mitochondrial genome...
  33. CD47-Display on Nanomaterials
    Dennis Discher; Fiscal Year: 2004
    ..Our newest biocompatible and hydrolysable PEO-PLA copolymers were synthesized crudely but already demonstrate kinetic control of degradation/release; these and ..
  34. A BIOMIMETIC BARRIER FOR ISLET IMMUNOISOLATION
    Elliot Chaikof; Fiscal Year: 2002
    ..2) Define the transport characteristics of dendrimer based molecular channels. Poly(ethylene oxide) (PEO) dendrimers with macromolecular generations will be synthesized, end-functionalized with a polymerizable moiety, ..
  35. EXERCISE & MITOCHONDRIAL BIOGENESIS
    Ronald Victor; Fiscal Year: 1992
    ....
  36. ENZYMOLOGY AND GENETICS OF DROSOPHILA DNA REPAIR
    James Boyd; Fiscal Year: 1990
    ..The recovered clones will provide probes which can potentially be employed to recover analogous genes from the human genome. Mitochondrial DNA metabolism will also be investigated in an effort to develop a model in vitro system...
  37. MULTIFUNCTIONAL ANTITHROMBOGENIC SURFACES
    CLIFTON SANDERS; Fiscal Year: 1990
    ..Bisfunctional poly(thylene oxide) (PEO) will be coupled to surface amino groups...
  38. NEW COUPLING GROUPS FOR AQUEOUS IMMOBILIZATION CHEMISTRY
    CLIFTON SANDERS; Fiscal Year: 1990
    ..chemically treating amine-functionalized polyethylene, polyurethane, and silicone surfaces with these water-stable PEO spacer molecules under aqueous conditions; and (c) development of highly efficient procedures for attachment of ..
  39. HEMOLYMPHOPOIETIC GROWTH FACTORS
    Peter Quesenberry; Fiscal Year: 1993
    ..Julie Sando a molecular pharmacologist with a major focus on second messenger signalling and the control of growth control...
  40. PEO STAR MOLECULES AS THROMBORESISTANT SURFACES
    IH HOUNG LOH; Fiscal Year: 1992
    ..Long term effects may result in complement activation. This proposal centers on utilizing a new class of PEO molecules, in the form of stars, to accomplish two things: (1) Completely cover the underlying support material so ..
  41. ACQUISITION OF 200K3V GEG CRYO-ELECTRON MICROSCOPE
    Edward Egelman; Fiscal Year: 2000
    ..dependent membrane binding proteins such as annexin, using two dimensional crystals formed on lipid monolayers (Sando, Kretsinger); and 6) studies of ion channels, such as VacA hexamers, using cryo-EM of two-dimensional crystals to ..
  42. Hepatic mitochondrial oxidative stress, AIDS and alcohol
    William Lewis; Fiscal Year: 2005
    ..Biochemical, molecular and pathological changes (above) are ameliorated. This serves as a "proof of principle". ..
  43. AIDS and Alcohol and Cardiomyopathy
    William Lewis; Fiscal Year: 2005
    ..Myofibrillar, nuclear and mitochondrial volumes are analyzed quantitatively (by transmission electron microscopy [TEM]). Volume fractions of extracellular matrix and of myocytes are determined morphometrically (light and TEM). ..
  44. CARDIOMYOPATHY IN AIDS
    William Lewis; Fiscal Year: 2009
    ..HYPOTHESIS 4: mtDNA depletion (from any above) causes or results from oxidative stress. Antioxidants ameliorate oxidative stress from NRTIs by decreasing oxidation of mtDNA. ..
  45. Nucleoside analogs, mitochondria and AIDS cardiomyopathy
    William Lewis; Fiscal Year: 2006
    ..AIM 2: to define CM from HAART microscopically and ultrastructurally using morphometric methods. AIM 3: to define cardiac performance in CM from HAART echocardiographically and using Langendorff preparations. ..
  46. Acquired mtDNA depletion and nucleoside reverse transciptase inhibitors
    William Lewis; Fiscal Year: 2010
    ..Experiments offer insights into improving therapy with antiretrovirals used in AIDS. ..
  47. CARDIAC DYSFUNCTION, AIDS AND COCAINE
    William Lewis; Fiscal Year: 2003
    ..Immuno-LM and immuno-TEM identify cellular and subcellular alterations. ..
  48. Novel Approach to Study Transient Enzyme Intermediates
    Karen Anderson; Fiscal Year: 2008
    ..These studies will aid in pioneering a powerful and novel analytical methodology for detecting, characterizing and quantitating enzyme intermediates on a rapid time scale. ..
  49. The Role of Mitochondrial DNA Alterations in Cancer
    Lee Jun Wong; Fiscal Year: 2008
    ..Results from this research project will help us understand the functional role of mitochondrial DNA alterations in cancer and identify potential novel targets for more effective therapeutic development. ..
  50. MECHANISTIC STUDIES ON PEP UTILIZING ENZYMES
    Karen Anderson; Fiscal Year: 2003
    ..In addition as the investigator develops the quantitative aspects of the rapid mixing, pulsed-flow ESI-MS technique further, she will extend the studies of these enzymes to determine the full kinetic profile. ..
  51. Universal Technology for Profiling the Dynamics of Normal & Oncogenic Signaling
    Karen Anderson; Fiscal Year: 2008
    ..unreadable] [unreadable] [unreadable] [unreadable]..
  52. A Molecular Approach For Opportunistic HIV-1 Infections
    Karen Anderson; Fiscal Year: 2007
    ..unreadable] [unreadable] [unreadable]..
  53. MITDNA MUTAGENESIS BY ENVIRONMENTAL CARCINOGENS
    Keshav Singh; Fiscal Year: 2003
    ..The proposed study will fill a major gap in our understanding of the mechanisms of mitDNA mutagenesis induced by environmental carcinogens which has direct relevance in on the induction of mitochondrial diseases. ..
  54. Mitochondria and Mutagenesis
    Keshav K Singh; Fiscal Year: 2010
    ..abstract_text> ..
  55. PROTEASE INHIBITOR RELATED ATHEROSCLEROSIS IN HIV
    Andrew Carr; Fiscal Year: 2005
    ....
  56. Methamphetamine Neurotoxicity and Microglial Activation
    DONALD KUHN; Fiscal Year: 2009
    ..A better understanding of the mechanisms by which METH causes persistent damage to the DA neuronal system could lead to more targeted therapies and would open newer lines of investigation into this and other neurotoxic drugs of abuse. ..
  57. DIRECT OBSERVATION OF INTERFACIAL PROCESS
    Vladimir Hlady; Fiscal Year: 2001
    ..Build a dynamic model of events based on the information that includes the two-dimensional map of biomaterial surface properties and the spatial-temporal distribution of individual plasma proteins. ..
  58. CLINICAL RESEARCH CENTER FOR NEUROMUSCULAR DISEASE
    Salvatore DiMauro; Fiscal Year: 2007
    ....
  59. BIOENGINEERED POLYMERS FOR PARSING CELL RESPONSES
    Linda Griffith; Fiscal Year: 2007
    ..To dissect this, we have developed an inert, PEO-PMMA comb copolymer surface for precise immobilization of growth factor receptor and integrin ligands...
  60. Biomimetic Nanofibrillar Scaffolds For Cartilage Tissue Engineering
    Anu Subramanian; Fiscal Year: 2008
    ..The engineering methodology developed in this proposal may have broader impacts on the manufacturing of other surfaces for tissue engineering. [unreadable] [unreadable] [unreadable]..
  61. SCREENING PLATELETS INTERACTIONS WITH SURFACE GRADIENTS
    Vladimir Hlady; Fiscal Year: 2009
    ....
  62. ELECTRIC INJURY--IMAGING OF THERMAL/NON-THERMAL ASPECTS
    Raphael Lee; Fiscal Year: 2003
    ..abstract_text> ..
  63. SACRAL CREST CELLS AND ENTERIC NEURODEVELOPMENT
    Raj Kapur; Fiscal Year: 2005
    ..The results of this study will further our understanding of normal enteric neurodevelopment and congenital disorders of intestinal motility. ..
  64. THE ROLE OF SRF IN CARDIAC FUNCTION AND DEVELOPMENT
    RAVINDRA MISRA; Fiscal Year: 2005
    ..These studies will both elucidate the mechanisms by which SRF functions in heart and will establish powerful new methodologies for studying heart formation and function. ..
  65. Molecular Neurobiology of Drug Abuse
    DONALD KUHN; Fiscal Year: 2006
    ..Kuhn will remain extensively engaged in scientific mentoring activities. ..
  66. Mitochondrial DNA Delivery for LHON (Leber's Hereditary Optic Neuropathy)
    Rafal Smigrodzki; Fiscal Year: 2006
    ..Although the incidence of most individual inherited mitochondrial diseases is low, taken as a group, they afflict an estimated 500,000 people in the U.S. alone. [unreadable] [unreadable] [unreadable]..
  67. Role of MRP2 and MRP4 in renal organic anion excretion
    RYAN PELIS; Fiscal Year: 2007
    ..unreadable] [unreadable] [unreadable]..
  68. MICROARRAY ANALYSIS OF HUMAN COCAINE ADDICTS
    DONALD KUHN; Fiscal Year: 2002
    ..Microarray-based scanning of the human genome has the potential to establish those genes or gene clusters that define the addictive phenotype, leading the way to proteomic-based studies of the bases of addiction. ..
  69. Loss of FLJ13639 Expression in Acute Leukemia
    Keshav K Singh; Fiscal Year: 2010
    ..Confirmation of the role of the loss of FLJ13639 in leukemia prognosis, increase of chemo resistance should lead us and others, to develop new prognostic tools as well as novel, innovative therapeutic strategies. ..
  70. Uridine Supplementation for HIV lipoatrophy
    Grace McComsey; Fiscal Year: 2007
    ..On-study subjects will continue to be followed per study protocol for a total of 12 months. The last 6 months of the grant will be dedicated to processing of samples and analysis of all data. [unreadable] [unreadable]..
  71. Cross-linked Polymer Micelles in Cancer Therapy
    Tatiana K Bronich; Fiscal Year: 2010
    ..The nanofabrication of these micelles involves condensation of diblock copolymers of poly(ethylene oxide) (PEO) and poly(carboxylic acid) by divalent metal cations into spherical micelles of core-shell morphology...
  72. ECI Conference on Engineering Cell Biology II - The Cell in Context
    Linda Griffith; Fiscal Year: 2007
    ..This conference will also emphasize translation of basic research into industry application in tissue engineering and drug development. [unreadable] [unreadable] [unreadable]..
  73. Transcriptional Control of Early Coronary Vascular Development
    RAVINDRA P MISRA; Fiscal Year: 2010
    ....
  74. NIR-Emissive Polymersomal Markers for Molecula-Level Detection of Metastasis
    Michael Therien; Fiscal Year: 2009
    ....