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Ataxin-3, DNA Damage Repair, and SCA3 Cerebellar Degeneration: On the Path to Parsimony?


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Vyšlo v časopise: Ataxin-3, DNA Damage Repair, and SCA3 Cerebellar Degeneration: On the Path to Parsimony?. PLoS Genet 11(1): e32767. doi:10.1371/journal.pgen.1004937
Kategorie: Perspective
prolekare.web.journal.doi_sk: https://doi.org/10.1371/journal.pgen.1004937

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Zdroje

1. Kawaguchi Y, Okamoto T, Taniwaki M, Aizawa M, Inoue M, et al. (1994) CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1. Nat Genet 8: 221–228. 7874163

2. Wang G, Sawai N, Kotliarova S, Kanazawa I, Nukina N (2000) Ataxin-3, the MJD1 gene product, interacts with the two human homologs of yeast DNA repair protein RAD23, HHR23A and HHR23B. Hum Mol Genet 9: 1795–1803. 10915768

3. Winborn BJ, Travis SM, Todi SV, Scaglione KM, Xu P, et al. (2008) The deubiquitinating enzyme ataxin-3, a polyglutamine disease protein, edits Lys63 linkages in mixed linkage ubiquitin chains. J Biol Chem 283: 26436–26443. doi: 10.1074/jbc.M803692200 18599482

4. Burnett B, Li F, Pittman RN (2003) The polyglutamine neurodegenerative protein ataxin-3 binds polyubiquitylated proteins and has ubiquitin protease activity. Hum Mol Genet 12: 3195–3205. 14559776

5. Araujo J, Breuer P, Dieringer S, Krauss S, Dorn S, et al. (2011) FOXO4-dependent upregulation of superoxide dismutase-2 in response to oxidative stress is impaired in spinocerebellar ataxia type 3. Hum Mol Genet 20: 2928–2941. doi: 10.1093/hmg/ddr197 21536589

6. Chatterjee A, Saha S, Chakraborty A, Silva-Fernandes A, Mandal SM, et al. The Role of the Mammalian DNA End-processing Enzyme Polynucleotide Kinase 3’-Phosphatase in Spinocerebellar Ataxia Type 3 Pathogenesis. PLoS Genetics 11: e1004749.

7. Gao R, Liu Y, Silva-Fernandes A, Fang X, Paulucci-Holthauzen A, et al. (2014) Inactivation of PNKP by mutant ATXN3 triggers apoptosis by activating the DNA damage response pathway in SCA3. PLoS Genetics 11: e1004834.

8. Poulton C, Oegema R, Heijsman D, Hoogeboom J, Schot R, et al. (2013) Progressive cerebellar atrophy and polyneuropathy: expanding the spectrum of PNKP mutations. Neurogenetics 14: 43–51. doi: 10.1007/s10048-012-0351-8 23224214

9. Shen J, Gilmore EC, Marshall CA, Haddadin M, Reynolds JJ, et al. (2010) Mutations in PNKP cause microcephaly, seizures and defects in DNA repair. Nat Genet 42: 245–249. 20118933

10. Freschauf GK, Karimi-Busheri F, Ulaczyk-Lesanko A, Mereniuk TR, Ahrens A, et al. (2009) Identification of a small molecule inhibitor of the human DNA repair enzyme polynucleotide kinase/phosphatase. Cancer Res 69: 7739–7746. doi: 10.1158/0008-5472.CAN-09-1805 19773431

11. Chou AH, Lin AC, Hong KY, Hu SH, Chen YL, et al. (2011) p53 activation mediates polyglutamine-expanded ataxin-3 upregulation of Bax expression in cerebellar and pontine nuclei neurons. Neurochem Int 58: 145–152. doi: 10.1016/j.neuint.2010.11.005 21092747

12. Lim J, Crespo-Barreto J, Jafar-Nejad P, Bowman AB, Richman R, et al. (2008) Opposing effects of polyglutamine expansion on native protein complexes contribute to SCA1. Nature 452: 713–718. doi: 10.1038/nature06731 18337722

13. Nedelsky NB, Pennuto M, Smith RB, Palazzolo I, Moore J, et al. (2010) Native functions of the androgen receptor are essential to pathogenesis in a Drosophila model of spinobulbar muscular atrophy. Neuron 67: 936–952. doi: 10.1016/j.neuron.2010.08.034 20869592

14. Date H, Onodera O, Tanaka H, Iwabuchi K, Uekawa K, et al. (2001) Early-onset ataxia with ocular motor apraxia and hypoalbuminemia is caused by mutations in a new HIT superfamily gene. Nat Genet 29: 184–188. 11586299

15. Moreira MC, Barbot C, Tachi N, Kozuka N, Uchida E, et al. (2001) The gene mutated in ataxia-ocular apraxia 1 encodes the new HIT/Zn-finger protein aprataxin. Nat Genet 29: 189–193. 11586300

16. Takashima H, Boerkoel CF, John J, Saifi GM, Salih MA, et al. (2002) Mutation of TDP1, encoding a topoisomerase I-dependent DNA damage repair enzyme, in spinocerebellar ataxia with axonal neuropathy. Nat Genet 32: 267–272. 12244316

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Genetika Reprodukčná medicína

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