Human molecular genetics

(Hum Mol Genet) ISSNs: , 1460-2083

References in Human molecular genetics:

Title Authors Year
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
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