Article ID Journal Published Year Pages File Type
10883095 Mitochondrion 2011 6 Pages PDF
Abstract
► G517V variant of human DNA pol γ is associated with numerous mitochondrial disorders. ► Analysis of G517V mutant revealed wild-type like polymerase and DNA binding activity. ► 3D structure of pol γ suggest Gly517 does not make contact with p55 accessory subunit. ► Our biochemical analyses indicate that the G517V mutation is probably a polymorphism.
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Life Sciences Biochemistry, Genetics and Molecular Biology Biophysics
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Biochemical analysis of the G517V POLG variant reveals wild-type like activity
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