Publications

Rahman S, Copeland WC. POLG-related disorders and their neurological manifestations.Nat Rev Neurol. 2019;15(1):40–52. PMID: 30451971.

Lim SE, Longley MJ & Copeland WC. The mitochondrial p55 accessory subunit of human DNA polymerase gamma enhances DNA binding, promotes processive DNA synthesis, and confers N-ethylmaleimide resistance. J Biol Chem. 1999 Dec 31;274(53):38197-203. doi: 10.1074/jbc.274.53.38197. PMID: 10608893.

Longley MJ, et al. Mutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegia. Am J Hum Genet. 2006;78(6):1026–34. PMID: 16685652.

Young MJ, et al. Biochemical analysis of human POLG2 variants associated with mitochondrial disease.Hum Mol Genet. 2011;20(15):3052–66. PMID: 21555342.

Walter MC, et al. Late-onset ptosis and myopathy in a patient with a heterozygous insertion in POLG2. J Neurol. 2010;257(9):1517–23. PMID: 20405137.

Hoff KE, et al. Characterization of the human homozygous R182W POLG2 mutation in mitochondrial DNA depletion syndrome. PLoS ONE. 2018;13(8): e0203198. PMID: 30157269.

Lee SJ, et al. A POLG2 homozygous mutation in an autosomal recessive epilepsy family without ophthalmoplegia. J Clin Neurol. 2019;15(3):418–20. PMID: 31286721.

Borsche M, et al. POLG2-Linked Mitochondrial Disease: Functional Insights from New Mutation Carriers and Review of the Literature.Cerebellum (2023). PMID: 37085601.