Copeland WC - Search Results

1

Biallelic potential disease-causing missense variants in TAF1A in two siblings with infantile restrictive cardiomyopathy.

Jiang N, Xu W, Abdelhakim A, Matveyenko A, Szabolcs M, Copeland WC, Disco M, Iglesias A, Lee TM, Naini A, Ganapathi M. Jiang N, et al. Among authors: copeland wc. Eur J Med Genet. 2024 Oct;71:104968. doi: 10.1016/j.ejmg.2024.104968. Epub 2024 Aug 28. Eur J Med Genet. 2024. PMID: 39209150 Free article.

2

Corrigendum to "A new pathogenic POLG variant" [Molecular Genetics and Metabolism Reports 32 (2022) 100890].

Russo SN, Shah EG, Copeland WC, Koenig MK. Russo SN, et al. Among authors: copeland wc. Mol Genet Metab Rep. 2023 Jan 31;34:100958. doi: 10.1016/j.ymgmr.2023.100958. eCollection 2023 Mar. Mol Genet Metab Rep. 2023. PMID: 36873250 Free PMC article.

3

Expert Panel Curation of 113 Primary Mitochondrial Disease Genes for the Leigh Syndrome Spectrum.

McCormick EM, Keller K, Taylor JP, Coffey AJ, Shen L, Krotoski D, Harding B; NICHD ClinGen U24 Mitochondrial Disease Gene Curation Expert Panel; Gai X, Falk MJ, Zolkipli-Cunningham Z, Rahman S. McCormick EM, et al. Ann Neurol. 2023 Oct;94(4):696-712. doi: 10.1002/ana.26716. Epub 2023 Aug 12. Ann Neurol. 2023. PMID: 37255483 Free PMC article.

4

Structures of the mitochondrial single-stranded DNA binding protein with DNA and DNA polymerase γ.

Riccio AA, Bouvette J, Pedersen LC, Somai S, Dutcher RC, Borgnia MJ, Copeland WC. Riccio AA, et al. Among authors: copeland wc. Nucleic Acids Res. 2024 Sep 23;52(17):10329-10340. doi: 10.1093/nar/gkae670. Nucleic Acids Res. 2024. PMID: 39106165 Free PMC article.

5

Coordinated DNA polymerization by Polγ and the region of LonP1 regulated proteolysis.

Riccio AA, Brannon AJ, Krahn JM, Bouvette J, Williams JG, Borgnia MJ, Copeland WC. Riccio AA, et al. Among authors: copeland wc. Nucleic Acids Res. 2024 Jul 22;52(13):7863-7875. doi: 10.1093/nar/gkae539. Nucleic Acids Res. 2024. PMID: 38932681 Free PMC article.

6

POLG-Related Disorders.

Cohen BH, Chinnery PF, Copeland WC. Cohen BH, et al. Among authors: copeland wc. 2010 Mar 16 [updated 2024 Feb 29]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2010 Mar 16 [updated 2024 Feb 29]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 20301791 Free Books & Documents. Review.

7

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

Wojtaszek JL, Hoff KE, Longley MJ, Kaur P, Andres SN, Wang H, Williams RS, Copeland WC. Wojtaszek JL, et al. Among authors: copeland wc. Nucleic Acids Res. 2023 Oct 13;51(18):9716-9732. doi: 10.1093/nar/gkad679. Nucleic Acids Res. 2023. PMID: 37592734 Free PMC article.

8

Mitochondrial DNA Enrichment for Sensitive Next-Generation Sequencing.

Wu S, Longley MJ, Lujan SA, Kunkel TA, Copeland WC. Wu S, et al. Among authors: copeland wc. Methods Mol Biol. 2023;2615:427-441. doi: 10.1007/978-1-0716-2922-2_28. Methods Mol Biol. 2023. PMID: 36807807

9

Automated systematic evaluation of cryo-EM specimens with SmartScope.

Bouvette J, Huang Q, Riccio AA, Copeland WC, Bartesaghi A, Borgnia MJ. Bouvette J, et al. Among authors: copeland wc. Elife. 2022 Aug 23;11:e80047. doi: 10.7554/eLife.80047. Elife. 2022. PMID: 35997703 Free PMC article.

10

Structural insight and characterization of human Twinkle helicase in mitochondrial disease.

Riccio AA, Bouvette J, Perera L, Longley MJ, Krahn JM, Williams JG, Dutcher R, Borgnia MJ, Copeland WC. Riccio AA, et al. Among authors: copeland wc. Proc Natl Acad Sci U S A. 2022 Aug 9;119(32):e2207459119. doi: 10.1073/pnas.2207459119. Epub 2022 Aug 1. Proc Natl Acad Sci U S A. 2022. PMID: 35914129 Free PMC article.

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