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William C. Copeland

National Institutes of Health
Research Triangle Park

151

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Using Atomic Force Microscopy to Study the Real Time Dynamics of DNA Unwinding by Mitochondrial Twinkle Helicase

2021
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Whole-Exome Sequencing Identifies a Novel POLG Frameshift Variant in an Adult Patient Presenting with Progressive External Ophthalmoplegia and Mitochondrial DNA Depletion.

2021 Case reports in genetics
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Ultrasensitive deletion detection links mitochondrial DNA replication, disease, and aging

2020 Genome Biology
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Polymerase γ efficiently replicates through many natural template barriers but stalls at the HSP1 quadruplex.

2020 Journal of Biological Chemistry
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Single-molecule level structural dynamics of DNA unwinding by human mitochondrial Twinkle helicase.

2020 Journal of Biological Chemistry
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Mitochondrial single-stranded DNA binding protein novel de novo SSBP1 mutation in a child with single large-scale mtDNA deletion (SLSMD) clinically manifesting as Pearson, Kearns-Sayre, and Leigh syndromes.

2019 PLOS ONE
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POLG -related disorders and their neurological manifestations

2019 Nature Reviews Neurology
- Shamima Rahman
- William C. Copeland
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The C-terminal tail of the NEIL1 DNA glycosylase interacts with the human mitochondrial single-stranded DNA binding protein

2018 DNA Repair
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DNA Polymerase β Mediates Robust Base Lesion Repair in Mammalian Mitochondria

2018
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Characterization of the human homozygous R182W POLG2 mutation in mitochondrial DNA depletion syndrome

2018 PLOS ONE
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