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Modeling of pathogenic variants of mitochondrial DNA polymerase: insight into the replication defects and implication for human disease
Hoyos-Gonzalez, Nallely, Trasviña-Arenas, Carlos H., Degiorgi, Andrea, Castro-Lara, Atzimaba Y., Peralta-Castro, Antolín, Jimenez-Sandoval, Pedro, Diaz-Quezada, Corina, Lodi, Tiziana, Baruffini, Enrico, Brieba, Luis G.
Published in Biochimica et biophysica acta. General subjects (01.07.2020)
Published in Biochimica et biophysica acta. General subjects (01.07.2020)
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Journal Article
Is the CAG repeat of mitochondrial DNA polymerase gamma (POLG) associated with male infertility? A multi-centre French study
Aknin-Seifer, I.E., Touraine, R.L., Lejeune, H., Jimenez, C., Chouteau, J., Siffroi, J.P., McElreavey, K., Bienvenu, T., Patrat, C., Levy, R.
Published in Human reproduction (Oxford) (01.03.2005)
Published in Human reproduction (Oxford) (01.03.2005)
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Journal Article
Variations of mitochondrial DNA polymerase γ in patients with Parkinson’s disease
Ylönen, S., Ylikotila, P., Siitonen, A., Finnilä, S., Autere, J., Majamaa, K.
Published in Journal of neurology (01.12.2013)
Published in Journal of neurology (01.12.2013)
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Journal Article
Variations of mitochondrial DNA polymerase [gamma] in patients with Parkinson's disease
Ylönen, S, Ylikotila, P, Siitonen, A, Finnilä, S, Autere, J, Majamaa, K
Published in Journal of neurology (01.12.2013)
Published in Journal of neurology (01.12.2013)
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Journal Article
Frequent polymorphism of the mitochondrial DNA polymerase gamma gene (POLG) in patients with normal spermiograms and unexplained subfertility
Jensen, Martin, Leffers, Henrik, Petersen, Jørgen H., Nyboe Andersen, Anders, Jørgensen, Niels, Carlsen, Elisabeth, Jensen, Tina Kold, Skakkebæk, Niels E., Rajpert‐De Meyts, Ewa
Published in Human reproduction (Oxford) (01.01.2004)
Published in Human reproduction (Oxford) (01.01.2004)
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Journal Article
Measurement of kinetic parameters of human platelet DNA polymerase γ
Taanman, Jan-Willem, Heiske, Margit, Letellier, Thierry
Published in Methods (San Diego, Calif.) (01.08.2010)
Published in Methods (San Diego, Calif.) (01.08.2010)
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Journal Article
Polymerase γ Gene POLG determines the risk of sodium valproate‐induced liver toxicity
Stewart, Joanna D., Horvath, Rita, Baruffini, Enrico, Ferrero, Iliana, Bulst, Stefanie, Watkins, Paul B., Fontana, Robert J., Day, Christopher P., Chinnery, Patrick F.
Published in Hepatology (Baltimore, Md.) (01.11.2010)
Published in Hepatology (Baltimore, Md.) (01.11.2010)
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Journal Article
Molecular pathogenesis of polymerase gamma-related neurodegeneration
Tzoulis, Charalampos, Tran, Gia Tuong, Coxhead, Jonathan, Bertelsen, Bjørn, Lilleng, Peer K., Balafkan, Novin, Payne, Brendan, Miletic, Hrvoje, Chinnery, Patrick F., Bindoff, Laurence A.
Published in Annals of neurology (01.07.2014)
Published in Annals of neurology (01.07.2014)
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Journal Article
Action of Mitochondrial DNA Polymerase γ at Sites of Base Loss or Oxidative Damage
Pinz, Kevin G., Shibutani, Shinya, Bogenhagen, Daniel F.
Published in The Journal of biological chemistry (21.04.1995)
Published in The Journal of biological chemistry (21.04.1995)
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Journal Article
Severe nigrostriatal degeneration without clinical parkinsonism in patients with polymerase gamma mutations
Tzoulis, Charalampos, Tran, Gia Tuong, Schwarzlmüller, Thomas, Specht, Karsten, Haugarvoll, Kristoffer, Balafkan, Novin, Lilleng, Peer K., Miletic, Hrvoje, Biermann, Martin, Bindoff, Laurence A.
Published in Brain (London, England : 1878) (01.08.2013)
Published in Brain (London, England : 1878) (01.08.2013)
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Journal Article
Revisiting mitochondrial ocular myopathies: a study from the Italian Network
Orsucci, D., Angelini, C., Bertini, E., Carelli, V., Comi, G. P., Federico, A., Minetti, C., Moggio, M., Mongini, T., Santorelli, F. M., Servidei, S., Tonin, P., Ardissone, A., Bello, L., Bruno, C., Ienco, E. Caldarazzo, Diodato, D., Filosto, M., Lamperti, C., Moroni, I., Musumeci, O., Pegoraro, E., Primiano, G., Ronchi, D., Rubegni, A., Salvatore, S., Sciacco, M., Valentino, M. L., Vercelli, L., Toscano, A., Zeviani, M., Siciliano, G., Mancuso, M.
Published in Journal of neurology (01.08.2017)
Published in Journal of neurology (01.08.2017)
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Journal Article
The polymorphic polyglutamine repeat in the mitochondrial DNA polymerase γ gene is not associated with oligozoospermia
Brusco, A., Michielotto, C., Gatta, V., Foresta, C., Matullo, G., Zeviani, M., Ferrari, G., Dragone, E., Calabrese, G., Rossato, M., Stuppia, L., Migone, N.
Published in Journal of endocrinological investigation (01.01.2006)
Published in Journal of endocrinological investigation (01.01.2006)
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Journal Article
Genetic risk factors in Finnish patients with Parkinson's disease
Ylönen, Susanna, Siitonen, Ari, Nalls, Michael A., Ylikotila, Pauli, Autere, Jaana, Eerola-Rautio, Johanna, Gibbs, Raphael, Hiltunen, Mikko, Tienari, Pentti J., Soininen, Hilkka, Singleton, Andrew B., Majamaa, Kari
Published in Parkinsonism & related disorders (01.12.2017)
Published in Parkinsonism & related disorders (01.12.2017)
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Journal Article
Trace amounts of 8-oxo-dGTP in mitochondrial dNTP pools reduce DNA polymerase replication fidelity
Pursell, Z. F., McDonald, J. T., Mathews, C. K., Kunkel, T. A.
Published in Nucleic acids research (16.02.2008)
Published in Nucleic acids research (16.02.2008)
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Journal Article
Similar patterns of clonally expanded somatic mtDNA mutations in the colon of heterozygous mtDNA mutator mice and ageing humans
Baines, Holly L., Stewart, James B., Stamp, Craig, Zupanic, Anze, Kirkwood, Thomas B.L., Larsson, Nils-Göran, Turnbull, Douglass M., Greaves, Laura C.
Published in Mechanisms of ageing and development (01.07.2014)
Published in Mechanisms of ageing and development (01.07.2014)
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Journal Article