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564 results
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Modulation of the W748S mutation in DNA polymerase gamma by the E1143G polymorphismin mitochondrial disorders.
Chan SS, Longley MJ, Copeland WC. Chan SS, et al. Hum Mol Genet. 2006 Dec 1;15(23):3473-83. doi: 10.1093/hmg/ddl424. Epub 2006 Nov 6. Hum Mol Genet. 2006. PMID: 17088268 Free PMC article.
De novo mutation in POLG leads to haplotype insufficiency and Alpers syndrome.
Chan SS, Naviaux RK, Basinger AA, Casas KA, Copeland WC. Chan SS, et al. Mitochondrion. 2009 Sep;9(5):340-5. doi: 10.1016/j.mito.2009.05.002. Epub 2009 Jun 6. Mitochondrion. 2009. PMID: 19501198 Free PMC article.
Mitochondrial disorders of DNA polymerase γ dysfunction: from anatomic to molecular pathology diagnosis.
Zhang L, Chan SS, Wolff DJ. Zhang L, et al. Among authors: chan ss. Arch Pathol Lab Med. 2011 Jul;135(7):925-34. doi: 10.1043/2010-0356-RAR.1. Arch Pathol Lab Med. 2011. PMID: 21732785 Free PMC article. Review.
Decreased mtDNA, oxidative stress, cardiomyopathy, and death from transgenic cardiac targeted human mutant polymerase gamma.
Lewis W, Day BJ, Kohler JJ, Hosseini SH, Chan SS, Green EC, Haase CP, Keebaugh ES, Long R, Ludaway T, Russ R, Steltzer J, Tioleco N, Santoianni R, Copeland WC. Lewis W, et al. Among authors: chan ss. Lab Invest. 2007 Apr;87(4):326-35. doi: 10.1038/labinvest.3700523. Epub 2006 Feb 19. Lab Invest. 2007. PMID: 17310215 Free PMC article.
DNA polymerase gamma and mitochondrial disease: understanding the consequence of POLG mutations.
Chan SS, Copeland WC. Chan SS, et al. Biochim Biophys Acta. 2009 May;1787(5):312-9. doi: 10.1016/j.bbabio.2008.10.007. Epub 2008 Oct 29. Biochim Biophys Acta. 2009. PMID: 19010300 Free PMC article. Review.
Functional analysis of mutant mitochondrial DNA polymerase proteins involved in human disease.
Chan SS, Copeland WC. Chan SS, et al. Methods Mol Biol. 2009;554:59-72. doi: 10.1007/978-1-59745-521-3_4. Methods Mol Biol. 2009. PMID: 19513667 Free PMC article.
Disease mutations in the human mitochondrial DNA polymerase thumb subdomain impart severe defects in mitochondrial DNA replication.
Kasiviswanathan R, Longley MJ, Chan SS, Copeland WC. Kasiviswanathan R, et al. Among authors: chan ss. J Biol Chem. 2009 Jul 17;284(29):19501-10. doi: 10.1074/jbc.M109.011940. Epub 2009 May 28. J Biol Chem. 2009. PMID: 19478085 Free PMC article.
Mitochondrial toxicity in hearts of CD-1 mice following perinatal exposure to AZT, 3TC, or AZT/3TC in combination.
Chan SS, Santos JH, Meyer JN, Mandavilli BS, Cook DL Jr, McCash CL, Kissling GE, Nyska A, Foley JF, van Houten B, Copeland WC, Walker VE, Witt KL, Bishop JB. Chan SS, et al. Environ Mol Mutagen. 2007 Apr-May;48(3-4):190-200. doi: 10.1002/em.20191. Environ Mol Mutagen. 2007. PMID: 16395692
The common A467T mutation in the human mitochondrial DNA polymerase (POLG) compromises catalytic efficiency and interaction with the accessory subunit.
Chan SS, Longley MJ, Copeland WC. Chan SS, et al. J Biol Chem. 2005 Sep 9;280(36):31341-6. doi: 10.1074/jbc.M506762200. Epub 2005 Jul 16. J Biol Chem. 2005. PMID: 16024923
Mono-allelic POLG expression resulting from nonsense-mediated decay and alternative splicing in a patient with Alpers syndrome.
Chan SS, Longley MJ, Naviaux RK, Copeland WC. Chan SS, et al. DNA Repair (Amst). 2005 Dec 8;4(12):1381-9. doi: 10.1016/j.dnarep.2005.08.010. Epub 2005 Sep 21. DNA Repair (Amst). 2005. PMID: 16181814
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