PMC Links for Gene (Select 85472) - PMC

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Items: 19

Select item 37281521.

Novel polymerase gamma (POLG1) gene mutation in the linker domain associated with parkinsonism

Rachel Dolhun, Erin M Presant, Peter Hedera

BMC Neurol. 2013; 13: 92. Published online 2013 Jul 18. doi: 10.1186/1471-2377-13-92

PMCID:: PMC3728152

Abstract Article PDF–374K

Select item 32980932.

Sensory ataxic neuropathy with dysarthria/dysphagia and ophthalmoplegia (SANDO). Two case reports

István Gáti, Olof Danielsson, Jon Jonasson, Anne-Marie Landtblom

Acta Myol. 2011 Dec; 30(3): 188–190.

PMCID:: PMC3298093

Abstract Article PDF–148K

Select item 38269853.

A Novel POLG Gene Mutation in 4 Children With Alpers-like Hepatocerebral Syndromes

Dr. Bulent Kurt, Dr. Jaak Jaeken, Dr. Johan Van Hove, Dr. Lieven Lagae, Ms. Ann Löfgren, Dr. David B. Everman, Dr. Parul Jayakar, Dr. Ali Naini, Dr. Klaas J. Wierenga, Dr. Gert Van Goethem, Dr. William C. Copeland, Dr. Salvatore DiMauro

Arch Neurol. Author manuscript; available in PMC 2013 Nov 13.

Published in final edited form as: Arch Neurol. 2010 Feb; 67(2): 10.1001/archneurol.2009.332. doi: 10.1001/archneurol.2009.332

PMCID:: PMC3826985

Abstract Article PDF–960K

Select item 26960454.

Mitochondrial DNA damage and impaired base excision repair during epileptogenesis

Stuart G. Jarrett, Li-Ping Liang, Jennifer L. Hellier, Kevin J. Staley, Manisha Patel

Neurobiol Dis. Author manuscript; available in PMC 2009 Jun 15.

Published in final edited form as: Neurobiol Dis. 2008 Apr; 30(1): 130–138. Published online 2008 Jan 5. doi: 10.1016/j.nbd.2007.12.009

PMCID:: PMC2696045

Abstract Article PDF–1.0M

Select item 34152805.

Mitochondria DNA Replication and DNA Methylation in the Metabolic Memory Associated with Continued Progression of Diabetic Retinopathy

Shikha Tewari, Qing Zhong, Julia M Santos, Renu A Kowluru

Invest Ophthalmol Vis Sci. 2012 Jul; 53(8): 4881–4888. Published online 2012 Jul 24. doi: 10.1167/iovs.12-9732

PMCID:: PMC3415280

Abstract Article PDF–346K

Select item 33653596.

Damaged Mitochondrial DNA Replication System and the Development of Diabetic Retinopathy

Shikha Tewari, Julia M. Santos, Renu A. Kowluru

Antioxid Redox Signal. 2012 Aug 1; 17(3): 492–504. doi: 10.1089/ars.2011.4333

PMCID:: PMC3365359

Abstract Article PDF–751K

Select item 29299397.

Expression changes in DNA repair enzymes and mitochondrial DNA damage in aging rat lens

Yi Zhang, Lu Zhang, Lan Zhang, Jie Bai, HongYan Ge, Ping Liu

Mol Vis. 2010; 16: 1754–1763. Published online 2010 Aug 27.

PMCID:: PMC2929939

Abstract Article PDF–527K

Select item 18314628.

DECREASED mtDNA, OXIDATIVE STRESS, CARDIOMYOPATHY, AND DEATH FROM TRANSGENIC CARDIAC TARGETED HUMAN MUTANT POLYMERASE ? *

William Lewis, Brian J. Day, James J. Kohler, Seyed H. Hosseini, Sherine S. L. Chan, Elgin Green, Chad P. Haase, Erin Keebaugh, Robert Long, Tomika Ludaway, Rodney Russ, Jeffrey Steltzer, Nina Tioleco, Robert Santoianni, William C. Copeland

Lab Invest. Author manuscript; available in PMC 2007 Apr 1.

Published in final edited form as: Lab Invest. 2007 Apr; 87(4): 326–335. Published online 2006 Feb 19. doi: 10.1038/labinvest.3700523

PMCID:: PMC1831462

Abstract Article PDF–1.0M

Select item 75472359.

Unusually efficient CUG initiation of an overlapping reading frame in POLG mRNA yields novel protein POLGARF

Gary Loughran, Alexander V. Zhdanov, Maria S. Mikhaylova, Fedor N. Rozov, Petr N. Datskevich, Sergey I. Kovalchuk, Marina V. Serebryakova, Stephen J. Kiniry, Audrey M. Michel, Patrick B. F. O’Connor, Dmitri B. Papkovsky, John F. Atkins, Pavel V. Baranov, Ivan N. Shatsky, Dmitry E. Andreev

Proc Natl Acad Sci U S A. 2020 Oct 6; 117(40): 24936–24946. Published online 2020 Sep 21. doi: 10.1073/pnas.2001433117

PMCID:: PMC7547235

Abstract Article PDF–2.4M

Select item 455082710.

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

Abstract Article PDF–710K

Select item 301853311.

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

Abstract Article PDF–2.1M

Select item 588611512.

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

Abstract Article PDF–958K

Select item 280127413.

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

Abstract Article PDF–2.4M

Select item 477388714.

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

PMCID:: PMC4773887

Abstract Article PDF–1.8M

Select item 42329415.

Reconstitution of a minimal mtDNA replisome in vitro

Jenny A Korhonen, Xuan Hoi Pham, Mina Pellegrini, Maria Falkenberg

EMBO J. 2004 Jun 16; 23(12): 2423–2429. Published online 2004 May 27. doi: 10.1038/sj.emboj.7600257

PMCID:: PMC423294

Abstract Article PDF–175K

Select item 466138516.

Mitochondrial Single-stranded DNA-binding Proteins Stimulate the Activity of DNA Polymerase γ by Organization of the Template DNA

Grzegorz L. Ciesielski, Oya Bermek, Fernando A. Rosado-Ruiz, Stacy L. Hovde, Orrin J. Neitzke, Jack D. Griffith, Laurie S. Kaguni

J Biol Chem. 2015 Nov 27; 290(48): 28697–28707. Published online 2015 Oct 7. doi: 10.1074/jbc.M115.673707

PMCID:: PMC4661385

Abstract Article PDF–1.2M

Select item 424595117.

Opposing roles of mitochondrial and nuclear PARP1 in the regulation of mitochondrial and nuclear DNA integrity: implications for the regulation of mitochondrial function

Bartosz Szczesny, Attila Brunyanszki, Gabor Olah, Sankar Mitra, Csaba Szabo

Nucleic Acids Res. 2014 Dec 1; 42(21): 13161–13173. Published online 2014 Nov 5. doi: 10.1093/nar/gku1089

PMCID:: PMC4245951

Abstract Article PDF–624K

Select item 277884418.

A mitochondrial protein compendium elucidates complex I disease biology

David J. Pagliarini, Sarah E. Calvo, Betty Chang, Sunil A. Sheth, Scott B. Vafai, Shao-En Ong, Geoffrey A. Walford, Canny Sugiana, Avihu Boneh, William K. Chen, David E. Hill, Marc Vidal, James G. Evans, David R. Thorburn, Steven A. Carr, Vamsi K. Mootha

Cell. Author manuscript; available in PMC 2009 Nov 18.

Published in final edited form as: Cell. 2008 Jul 11; 134(1): 112–123. doi: 10.1016/j.cell.2008.06.016