Copeland WC - Search Results

1

POLG2 deficiency causes adult-onset syndromic sensory neuropathy, ataxia and parkinsonism.

Van Maldergem L, Besse A, De Paepe B, Blakely EL, Appadurai V, Humble MM, Piard J, Craig K, He L, Hella P, Debray FG, Martin JJ, Gaussen M, Laloux P, Stevanin G, Van Coster R, Taylor RW, Copeland WC, Mormont E, Bonnen PE. Van Maldergem L, et al. Among authors: copeland wc. Ann Clin Transl Neurol. 2016 Nov 16;4(1):4-14. doi: 10.1002/acn3.361. eCollection 2017 Jan. Ann Clin Transl Neurol. 2016. PMID: 28078310 Free PMC article.

2

Mutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegia.

Longley MJ, Clark S, Yu Wai Man C, Hudson G, Durham SE, Taylor RW, Nightingale S, Turnbull DM, Copeland WC, Chinnery PF. Longley MJ, et al. Among authors: copeland wc. Am J Hum Genet. 2006 Jun;78(6):1026-34. doi: 10.1086/504303. Epub 2006 May 4. Am J Hum Genet. 2006. PMID: 16685652 Free PMC article.

3

Transcriptional response to mitochondrial NADH kinase deficiency in Saccharomyces cerevisiae.

Stuart GR, Humble MM, Strand MK, Copeland WC. Stuart GR, et al. Among authors: copeland wc. Mitochondrion. 2009 Jun;9(3):211-21. doi: 10.1016/j.mito.2009.02.004. Epub 2009 Feb 28. Mitochondrion. 2009. PMID: 19254780 Free PMC article.

4

Disease variants of the human mitochondrial DNA helicase encoded by C10orf2 differentially alter protein stability, nucleotide hydrolysis, and helicase activity.

Longley MJ, Humble MM, Sharief FS, Copeland WC. Longley MJ, et al. Among authors: copeland wc. J Biol Chem. 2010 Sep 24;285(39):29690-702. doi: 10.1074/jbc.M110.151795. Epub 2010 Jul 20. J Biol Chem. 2010. PMID: 20659899 Free PMC article.

5

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

Craig K, Young MJ, Blakely EL, Longley MJ, Turnbull DM, Copeland WC, Taylor RW. Craig K, et al. Among authors: copeland wc. Mitochondrion. 2012 Mar;12(2):313-9. doi: 10.1016/j.mito.2011.11.006. Epub 2011 Dec 4. Mitochondrion. 2012. PMID: 22155748 Free PMC article.

6

Polg2 is essential for mammalian embryogenesis and is required for mtDNA maintenance.

Humble MM, Young MJ, Foley JF, Pandiri AR, Travlos GS, Copeland WC. Humble MM, et al. Among authors: copeland wc. Hum Mol Genet. 2013 Mar 1;22(5):1017-25. doi: 10.1093/hmg/dds506. Epub 2012 Nov 29. Hum Mol Genet. 2013. PMID: 23197651 Free PMC article.

7

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

Young MJ, Humble MM, DeBalsi KL, Sun KY, Copeland WC. Young MJ, et al. Among authors: copeland wc. Hum Mol Genet. 2015 Sep 15;24(18):5184-97. doi: 10.1093/hmg/ddv240. Epub 2015 Jun 29. Hum Mol Genet. 2015. PMID: 26123486 Free PMC article.

8

Ultrasensitive deletion detection links mitochondrial DNA replication, disease, and aging.

Lujan SA, Longley MJ, Humble MH, Lavender CA, Burkholder A, Blakely EL, Alston CL, Gorman GS, Turnbull DM, McFarland R, Taylor RW, Kunkel TA, Copeland WC. Lujan SA, et al. Among authors: copeland wc. Genome Biol. 2020 Sep 17;21(1):248. doi: 10.1186/s13059-020-02138-5. Genome Biol. 2020. PMID: 32943091 Free PMC article.

9

Progressive external ophthalmoplegia and vision and hearing loss in a patient with mutations in POLG2 and OPA1.

Ferraris S, Clark S, Garelli E, Davidzon G, Moore SA, Kardon RH, Bienstock RJ, Longley MJ, Mancuso M, Gutiérrez Ríos P, Hirano M, Copeland WC, DiMauro S. Ferraris S, et al. Among authors: copeland wc. Arch Neurol. 2008 Jan;65(1):125-31. doi: 10.1001/archneurol.2007.9. Arch Neurol. 2008. PMID: 18195150 Free PMC article.

10

POLG-related disorders and their neurological manifestations.

Rahman S, Copeland WC. Rahman S, et al. Among authors: copeland wc. Nat Rev Neurol. 2019 Jan;15(1):40-52. doi: 10.1038/s41582-018-0101-0. Nat Rev Neurol. 2019. PMID: 30451971 Free PMC article. Review.

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