| Sequence-specific stalling of DNA polymerase γ and the effects of mutations causing progressive ophthalmoplegia. |
Atanassova N, Fusté JM, Wanrooij S, Macao B, Goffart S, Bäckström S, Farge G, Khvorostov I, Larsson NG, Spelbrink JN, Falkenberg M |
2011 |
| Depletion of mitochondrial DNA in fibroblast cultures from patients with POLG1 mutations is a consequence of catalytic mutations. |
Ashley N, O'Rourke A, Smith C, Adams S, Gowda V, Zeviani M, Brown GK, Fratter C, Poulton J |
2008 |
| Genetic and chemical rescue of the Saccharomyces cerevisiae phenotype induced by mitochondrial DNA polymerase mutations associated with progressive external ophthalmoplegia in humans. |
Baruffini E, Lodi T, Dallabona C, Puglisi A, Zeviani M, Ferrero I |
2006 |
| Functional defects due to spacer-region mutations of human mitochondrial DNA polymerase in a family with an ataxia-myopathy syndrome. |
Luoma PT, Luo N, Löscher WN, Farr CL, Horvath R, Wanschitz J, Kiechl S, Kaguni LS, Suomalainen A |
2005 |
| The DNA polymerase gamma Y955C disease variant associated with PEO and parkinsonism mediates the incorporation and translesion synthesis opposite 7,8-dihydro-8-oxo-2'-deoxyguanosine. |
Graziewicz MA, Bienstock RJ, Copeland WC |
2007 |
| Direct and indirect roles of RECQL4 in modulating base excision repair capacity. |
Schurman SH, Hedayati M, Wang Z, Singh DK, Speina E, Zhang Y, Becker K, Macris M, Sung P, Wilson DM, Croteau DL, Bohr VA |
2009 |
| mip1 containing mutations associated with mitochondrial disease causes mutagenesis and depletion of mtDNA in Saccharomyces cerevisiae. |
Stumpf JD, Bailey CM, Spell D, Stillwagon M, Anderson KS, Copeland WC |
2010 |
| Mutations in human DNA polymerase γ confer unique mechanisms of catalytic deficiency that mirror the disease severity in mitochondrial disorder patients. |
Sohl CD, Kasiviswanathan R, Copeland WC, Anderson KS |
2012 |