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Select item 109510431.

POLG2-Linked Mitochondrial Disease: Functional Insights from New Mutation Carriers and Review of the Literature

Max Borsche, Marija Dulovic-Mahlow, Hauke Baumann, Sinem Tunc, Theresa Lüth, Susen Schaake, Selin Özcakir, Ana Westenberger, Alexander Münchau, Evelyn Knappe, Joanne Trinh, Norbert Brüggemann, Katja Lohmann

Cerebellum. 2024; 23(2): 479–488. Published online 2023 Apr 22. doi: 10.1007/s12311-023-01557-x

PMCID:: PMC10951043

Article PDF–3.3M

Select item 105700222.

Structure-specific roles for PolG2–DNA complexes in maintenance and replication of mitochondrial DNA

Jessica L Wojtaszek, Kirsten E Hoff, Matthew J Longley, Parminder Kaur, Sara N Andres, Hong Wang, R Scott Williams, William C Copeland

Nucleic Acids Res. 2023 Oct 13; 51(18): 9716–9732. Published online 2023 Aug 18. doi: 10.1093/nar/gkad679

PMCID:: PMC10570022

Article PDF–2.6M

Select item 61149193.

Characterization of the human homozygous R182W POLG2 mutation in mitochondrial DNA depletion syndrome

Kirsten E. Hoff, Karen L. DeBalsi, Maria J. Sanchez-Quintero, Matthew J. Longley, Michio Hirano, Ali B. Naini, William C. Copeland

PLoS One. 2018; 13(8): e0203198. Published online 2018 Aug 29. doi: 10.1371/journal.pone.0203198

PMCID:: PMC6114919

Article PDF–4.9M

Select item 50458164.

Whole Exome Sequencing Identifies a Homozygous POLG2 Missense Variant in an Infant with Fulminant Hepatic Failure and Mitochondrial DNA Depletion

Hemant Varma, Phyllis L. Faust, Alejandro D. Iglesias, Stephen M. Lagana, Karen Wou, Michio Hirano, Salvatore DiMauro, Mahesh M. Mansukani, Kirsten E. Hoff, Peter L. Nagy, William C. Copeland, Ali B. Naini

Eur J Med Genet. Author manuscript; available in PMC 2017 Oct 1.

Published in final edited form as: Eur J Med Genet. 2016 Oct; 59(10): 540–545. Published online 2016 Aug 31. doi: 10.1016/j.ejmg.2016.08.012

PMCID:: PMC5045816

Article PDF–2.1M

Select item 38246285.

A p.R369G POLG2 mutation associated with adPEO and multiple mtDNA deletions causes decreased affinity between polymerase γ subunits

Kate Craig, Matthew J. Young, Emma L. Blakely, Matthew J. Longley, Douglass M. Turnbull, William C. Copeland, Robert W. Taylor

Mitochondrion. Author manuscript; available in PMC 2013 Nov 12.

Published in final edited form as: Mitochondrion. 2012 Mar; 12(2): 10.1016/j.mito.2011.11.006. Published online 2011 Dec 4. doi: 10.1016/j.mito.2011.11.006

PMCID:: PMC3824628

Article PDF–2.1M

Select item 31310466.

Biochemical analysis of human POLG2 variants associated with mitochondrial disease

Matthew J. Young, Matthew J. Longley, Fang-Yuan Li, Rajesh Kasiviswanathan, Lee-Jun Wong, William C. Copeland

Hum Mol Genet. 2011 Aug 1; 20(15): 3052–3066. Published online 2011 May 9. doi: 10.1093/hmg/ddr209

PMCID:: PMC3131046

Article PDF–498K

Select item 27612807.

The accessory subunit of mitochondrial DNA polymerase γ determines the DNA content of mitochondrial nucleoids in human cultured cells

M. Di Re, H. Sembongi, J. He, A. Reyes, T. Yasukawa, P. Martinsson, L. J. Bailey, S. Goffart, J. D. Boyd-Kirkup, T. S. Wong, A. R. Fersht, J. N. Spelbrink, I. J. Holt

Nucleic Acids Res. 2009 Sep; 37(17): 5701–5713. Published online 2009 Jul 22. doi: 10.1093/nar/gkp614

PMCID:: PMC2761280

Article PDF–7.7M

Select item 14740828.

Mutant POLG2 Disrupts DNA Polymerase γ Subunits and Causes Progressive External Ophthalmoplegia

Matthew J. Longley, Susanna Clark, Cynthia Yu Wai Man, Gavin Hudson, Steve E. Durham, Robert W. Taylor, Simon Nightingale, Douglass M. Turnbull, William C. Copeland, Patrick F. Chinnery

Am J Hum Genet. 2006 Jun; 78(6): 1026–1034. Published online 2006 May 4. doi: 10.1086/504303

PMCID:: PMC1474082

Article PDF–1.5M

Select item 109200759.

Polγ coordinates DNA synthesis and proofreading to ensure mitochondrial genome integrity

Joon Park, Geoffrey K. Herrmann, Patrick G. Mitchell, Michael B. Sherman, Y. Whitney Yin

Nat Struct Mol Biol. Author manuscript; available in PMC 2024 Mar 8.

Published in final edited form as: Nat Struct Mol Biol. 2023 Jun; 30(6): 812–823. Published online 2023 May 18. doi: 10.1038/s41594-023-00980-2

PMCID:: PMC10920075

Article PDF–2.6M

Select item 454789810.

Structural basis for processivity and antiviral drug toxicity in human mitochondrial DNA replicase

Michal R Szymanski, Vladmir B Kuznetsov, Christie Shumate, Qingchao Meng, Young-Sam Lee, Gayatri Patel, Smita Patel, Y Whitney Yin

EMBO J. 2015 Jul 14; 34(14): 1959–1970. Published online 2015 Jun 8. doi: 10.15252/embj.201591520

PMCID:: PMC4547898

Article PDF–2.2M

Select item 274057611.

Disease Mutations in the Human Mitochondrial DNA Polymerase Thumb Subdomain Impart Severe Defects in Mitochondrial DNA Replication

Rajesh Kasiviswanathan, Matthew J. Longley, Sherine S. L. Chan, William C. Copeland

J Biol Chem. 2009 Jul 17; 284(29): 19501–19510. Published online 2009 May 28. doi: 10.1074/jbc.M109.011940

PMCID:: PMC2740576

Article PDF–2.0M

Select item 223083912.

The EM structure of human DNA polymerase γ reveals a localized contact between the catalytic and accessory subunits

Elena Yakubovskaya, Mark Lukin, Zhixin Chen, John Berriman, Joseph S Wall, Ryuji Kobayashi, Caroline Kisker, Daniel F Bogenhagen

EMBO J. 2007 Oct 3; 26(19): 4283–4291. Published online 2007 Aug 30. doi: 10.1038/sj.emboj.7601843

PMCID:: PMC2230839

Article PDF–427K

Select item 950846913.

Protocol to detect in vitro and in cell ubiquitylation of mitochondrial DNA polymerase gamma by mitochondrial E3 ligase MITOL

Mansoor Hussain, Shabnam Saifi, Aftab Mohammed, Sagar Sengupta

STAR Protoc. 2022 Dec 16; 3(4): 101710. Published online 2022 Sep 21. doi: 10.1016/j.xpro.2022.101710

PMCID:: PMC9508469

Article PDF–1.7M

Select item 10260414.

Protein sequences conserved in prokaryotic aminoacyl-tRNA synthetases are important for the activity of the processivity factor of human mitochondrial DNA polymerase

José A. Carrodeguas, Daniel F. Bogenhagen

Nucleic Acids Res. 2000 Mar 1; 28(5): 1237–1244. doi: 10.1093/nar/28.5.1237

PMCID:: PMC102604

Article PDF–402K

Select item 758730715.

Consequences of Compromised Mitochondrial Genome Integrity

Margaret A. Gustafson, Eric D. Sullivan, William C. Copeland

DNA Repair (Amst) Author manuscript; available in PMC 2021 Sep 1.

Published in final edited form as: DNA Repair (Amst). 2020 Sep; 93: 102916. doi: 10.1016/j.dnarep.2020.102916

PMCID:: PMC7587307

Article PDF–1022K

Select item 455082716.

POLG2 disease variants: analyses reveal a dominant negative heterodimer, altered mitochondrial localization and impaired respiratory capacity

Matthew J. Young, Margaret M. Humble, Karen L. DeBalsi, Kathie Y. Sun, William C. Copeland

Hum Mol Genet. 2015 Sep 15; 24(18): 5184–5197. Published online 2015 Jun 29. doi: 10.1093/hmg/ddv240

PMCID:: PMC4550827

Article PDF–710K

Select item 301853317.

Structural insights into human mitochondrial DNA replication and disease-related polymerase mutations

Young-Sam Lee, W. Dexter Kennedy, Y. Whitney Yin

Cell. Author manuscript; available in PMC 2011 Jan 10.

Published in final edited form as: Cell. 2009 Oct 16; 139(2): 312–324. doi: 10.1016/j.cell.2009.07.050

Correction in:: volume 139 on page 828

PMCID:: PMC3018533

Article PDF–2.1M

Select item 588611518.

A multi-systemic mitochondrial disorder due to a dominant p.Y955H disease variant in DNA polymerase gamma

Triinu Siibak, Paula Clemente, Ana Bratic, Helene Bruhn, Timo E.S. Kauppila, Bertil Macao, Florian A. Rosenberger, Nicole Lesko, Rolf Wibom, Karin Naess, Inger Nennesmo, Anna Wedell, Bradley Peter, Christoph Freyer, Maria Falkenberg, Anna Wredenberg

Hum Mol Genet. 2017 Jul 1; 26(13): 2515–2525. Published online 2017 Apr 17. doi: 10.1093/hmg/ddx146

PMCID:: PMC5886115

Article PDF–958K

Select item 280127419.

Each Monomer of the Dimeric Accessory Protein for Human Mitochondrial DNA Polymerase Has a Distinct Role in Conferring Processivity

Young-Sam Lee, Sujin Lee, Borries Demeler, Ian J. Molineux, Kenneth A. Johnson, Y. Whitney Yin

J Biol Chem. 2010 Jan 8; 285(2): 1490–1499. Published online 2009 Oct 26. doi: 10.1074/jbc.M109.062752

PMCID:: PMC2801274

Article PDF–2.4M

Select item 477388720.

Complementation between polymerase- and exonuclease-deficient mitochondrial DNA polymerase mutants in genomically engineered flies

Ana Bratic, Timo E. S. Kauppila, Bertil Macao, Sebastian Grönke, Triinu Siibak, James B. Stewart, Francesca Baggio, Jacqueline Dols, Linda Partridge, Maria Falkenberg, Anna Wredenberg, Nils-Göran Larsson

Nat Commun. 2015; 6: 8808. Published online 2015 Nov 10. doi: 10.1038/ncomms9808