Associated Papers
POLG2-Linked Mitochondrial Disease: Functional Insights from New Mutation Carriers and Review of the Literature.
Borsche M et al.
Cerebellum (london, England), 2024
37085601 (PubMed )
Supplement: 12311_2023_1557_MOESM1_ESM.xlsx › Table_S2
Characterization of the human homozygous R182W POLG2 mutation in mitochondrial DNA depletion syndrome.
Hoff KE et al.
Plos One, 2018
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
Polg2 is essential for mammalian embryogenesis and is required for mtDNA maintenance.
Humble MM et al.
Human Molecular Genetics, 2013
Biochemical analysis of human POLG2 variants associated with mitochondrial disease.
Young MJ et al.
Human Molecular Genetics, 2011
Defects in mitochondrial DNA replication and human disease.
Copeland WC
Critical Reviews in Biochemistry and Molecular Biology, 0
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