Article
Modeling of pathogenic variants of mitochondrial DNA polymerase: insight into the replication defects and implication for human disease.
Biochimica et biophysica acta. General subjects - 1 Jul 2020
Hoyos-Gonzalez Nallely, Trasviña-Arenas Carlos H, Degiorgi Andrea, Castro-Lara Atzimaba Y, Peralta-Castro Antolín, Jimenez-Sandoval Pedro, Diaz-Quezada Corina, Lodi Tiziana, Baruffini Enrico, Brieba Luis G
Abstract excerpt
BACKGROUND: Mutations in human gene encoding the mitochondrial DNA polymerase γ (HsPolγ) are associated with a broad range of mitochondrial diseases. Here we studied the impact on DNA replication by disease variants clustered around residue HsPolγ-K1191, a residue that in several family-A DNA polymerases interacts with the 3' end of the primer. METHODS: Specifically, we examined the effect of HsPolγ carrying...
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