| 1 | MCSZ, NEIL1, NEIL2, PNXP, POLG
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| Role of human DNA glycosylase Nei-like 2 (NEIL2) and single strand break repair protein polynucleotide kinase 3'-phosphatase in maintenance of mitochondrial genome.
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| Mandal SM, Hegde ML, Chatterjee A, Hegde PM, Szczesny B, Banerjee D, Boldogh I, Gao R, Falkenberg M, Gustafsson CM, Sarkar PS, Hazra TK.
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| J Biol Chem 287(4):2819-29. doi: 10.1074/jbc.M111.272179. Epub 2011 Nov 30.
2012
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| 2 | MCSZ, PNKP
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| Impact of PNKP mutations associated with microcephaly, seizures and developmental delay on enzyme activity and DNA strand break repair.
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| Reynolds JJ, Walker AK, Gilmore EC, Walsh CA, Caldecott KW.
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| Nucleic Acids Res 40(14):6608-19. doi: 10.1093/nar/gks318. Epub 2012 Apr 15.
2012
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| 3 | MCSZ, PNKP
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| Mutations in PNKP cause microcephaly, seizures and defects in DNA repair.
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| Shen J, Gilmore EC, Marshall CA, Haddadin M, Reynolds JJ, Eyaid W, Bodell A, Barry B, Gleason D, Allen K, Ganesh VS, Chang BS, Grix A, Hill RS, Topcu M, Caldecott KW, Barkovich AJ, Walsh CA.
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| Nat Genet 42(3):245-9. Epub 2010 Jan 31. 2010
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