Associated Papers
Mitochondrial DNA Replication and Disease: A Historical Perspective on Molecular Insights and Therapeutic Advances.
Somai S et al.
International Journal of Molecular Sciences, 2025
Coordinated DNA polymerization by Polγ and the region of LonP1 regulated proteolysis.
Riccio AA et al.
Nucleic Acids Research, 2024
POLG2-Linked Mitochondrial Disease: Functional Insights from New Mutation Carriers and Review of the Literature.
Borsche M et al.
Cerebellum (london, England), 2024
Structure-specific roles for PolG2-DNA complexes in maintenance and replication of mitochondrial DNA.
Wojtaszek JL et al.
Nucleic Acids Research, 2023
ConVarT: a search engine for matching human genetic variants with variants from non-human species.
Pir MS et al.
Nucleic Acids Research, 2022
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Characterization of the human homozygous R182W POLG2 mutation in mitochondrial DNA depletion syndrome.
Hoff KE et al.
Plos One, 2018
Role of the mitochondrial DNA replication machinery in mitochondrial DNA mutagenesis, aging and age-related diseases.
DeBalsi KL et al.
Ageing Research Reviews, 2017
Whole exome sequencing identifies a homozygous POLG2 missense variant in an infant with fulminant hepatic failure and mitochondrial DNA depletion.
Varma H et al.
European Journal of Medical Genetics, 2016
Human mitochondrial DNA replication machinery and disease.
Young MJ et al.
Current Opinion in Genetics & Development, 2016
POLG2 disease variants: analyses reveal a dominant negative heterodimer, altered mitochondrial localization and impaired respiratory capacity.
Young MJ et al.
Human Molecular Genetics, 2015
Genes and Pathways Involved in Adult Onset Disorders Featuring Muscle Mitochondrial DNA Instability.
Ahmed N et al.
International Journal of Molecular Sciences, 2015
Polg2 is essential for mammalian embryogenesis and is required for mtDNA maintenance.
Humble MM et al.
Human Molecular Genetics, 2013
A p.R369G POLG2 mutation associated with adPEO and multiple mtDNA deletions causes decreased affinity between polymerase γ subunits.
Craig K et al.
Mitochondrion, 2012
Biochemical analysis of human POLG2 variants associated with mitochondrial disease.
Young MJ et al.
Human Molecular Genetics, 2011
Mitochondrial disorders of DNA polymerase γ dysfunction: from anatomic to molecular pathology diagnosis.
Zhang L et al.
Archives of Pathology & Laboratory Medicine, 2011
POLG mutations cause decreased mitochondrial DNA repopulation rates following induced depletion in human fibroblasts.
Stewart JD et al.
Biochimica Et Biophysica Acta, 2011
Late-onset ptosis and myopathy in a patient with a heterozygous insertion in POLG2.
Walter MC et al.
Journal of Neurology, 2010
Purification and functional characterization of human mitochondrial DNA polymerase gamma harboring disease mutations.
Kasiviswanathan R et al.
Methods (san Diego, Calif.), 2010
Functional analysis of mutant mitochondrial DNA polymerase proteins involved in human disease.
Chan SS et al.
Methods in Molecular Biology (clifton, N.j.), 2009
Inherited mitochondrial diseases of DNA replication.
Copeland WC
Annual Review of Medicine, 2008
Mutant POLG2 disrupts DNA polymerase gamma subunits and causes progressive external ophthalmoplegia.
Longley MJ et al.
American Journal of Human Genetics, 2006
Defects in mitochondrial DNA replication and human disease.
Copeland WC
Critical Reviews in Biochemistry and Molecular Biology, 0