POLG-related disorders and their neurological manifestations
Author:
Publisher
Springer Science and Business Media LLC
Subject
Cellular and Molecular Neuroscience,Neurology (clinical)
Link
http://www.nature.com/articles/s41582-018-0101-0.pdf
Reference171 articles.
1. Kukat, C. et al. Super-resolution microscopy reveals that mammalian mitochondrial nucleoids have a uniform size and frequently contain a single copy of mtDNA. Proc. Natl Acad. Sci. USA 108, 13534–13539 (2011).
2. Korhonen, J. A., Pham, X. H., Pellegrini, M. & Falkenberg, M. Reconstitution of a minimal mtDNA replisome in vitro. EMBO J. 23, 2423–2429 (2004).
3. Copeland, W. C. & Longley, M. J. Mitochondrial genome maintenance in health and disease. DNA Repair 19, 190–198 (2014).
4. Bebenek, K. & Kunkel, T. A. Functions of DNA polymerases. Adv. Protein Chem. 69, 137–165 (2004).
5. Ropp, P. A. & Copeland, W. C. Cloning and characterization of the human mitochondrial DNA polymerase, DNA polymerase gamma. Genomics 36, 449–458 (1996).
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