WATSON, Lauren M; SCHOLEFIELD, Janine; GREENBERG, L Jacquie
and
WOOD, Matthew J A. Polyglutamine disease: From pathogenesis to therapy. SAMJ, S. Afr. med. j. [online].
2012,
vol.102, n.6, pp. 481-484.
ISSN 0256-9574.
|
|
2. Bence NF, Sampat RM, Kopito RR. Impairment of the ubiquitin-proteasome system by protein aggregation. Science 2001;292:1552-1555. [http://dx.doi.org/10.1126/science.292.5521.1552] [ Links ] 3. Ravikumar B, Vacher C, Berger Z, et al. Inhibition of mTOR induces autophagy and reduces toxicity of polyglutamine expansions in fly and mouse models of Huntington disease. Nat Genet 2004;36:585-595. [http://dx.doi.org/10.1038/ng1362] [ Links ] 4. Rubinsztein DC. The roles of intracellular protein-degradation pathways in neurodegeneration. Nature 2006;443:780-786. [http://dx.doi.org/10.1038/nature05291] [ Links ] 5. La Spada AR, Taylor JP. Repeat expansion disease: progress and puzzles in disease pathogenesis. Nat Rev Genet 2010;11:247-258.[http://dx.doi.org/10.1038/nrg2748] [ Links ] 6. Helmlinger D, Tora L, Devys D. Transcriptional alterations and chromatin remodeling in polyglutamine diseases. Trends Genet 2006;22:562-570. [http://dx.doi.org/10.1016/j.tig.2006.07.010] [ Links ] 7. Scholefield J, Wood MJA. Therapeutic gene silencing strategies for polyglutamine disorders. Trends Genet 2010;26:29-38. [http://dx.doi.org/10.1016/j.tig.2009.11.005] [ Links ] 8. Alves S, Nascimento-Ferreira I, Dufour N, et al. Silencing ataxin-3 mitigates degeneration in a rat model of Machado-Joseph disease: no role for wild-type ataxin-3? Hum Mol Genet 2010;19:2380-2394. [http://dx.doi.org/10.1093/hmg/ddq111] [ Links ] 9. Boudreau RL, McBride JL, Martins I, et al. Nonallele-specific silencing of mutant and wild-type huntingtin demonstrates therapeutic efficacy in Huntington's disease mice. Mol Ther 2009;17:1053-1063. [http://dx.doi.org/10.1038/mt.2009.17] [ Links ] 10. Pfister EL, Kennington L, Straubhaar J, et al. Five siRNAs targeting three SNPs may provide therapy for three-quarters of Huntington's disease patients. Curr Biol 2009;19:774-778. [http://dx.doi.org/10.1016/j.cub.2009.03.030] [ Links ] 11. Renna M, Jimenez-Sanchez M, Sarkar S, Rubinsztein DC. Chemical inducers of autophagy that enhance the clearance of mutant proteins in neurodegenerative diseases. J Biol Chem 2010;285:11061-11067. [http://dx.doi.org/10.1074/jbc.R109.072181] [ Links ] 12. Menzies FM, Rubinsztein DC. Broadening the therapeutic scope for rapamycin treatment. Autophagy2010;6:286-287. [http://dx.doi.org/10.4161/auto.6.2.11078] [ Links ] 13. Perrin V, Regulier E, Abbas-Terki T, et al. Neuroprotection by Hsp104 and Hsp27 in lentiviral-based rat models of Huntington's disease. Mol Ther 2007;15:903-911. [http://dx.doi.org/10.1038/mt.sj.6300141] [ Links ] 14. Labbadia J, Cunliffe H, Weiss A, et al. Altered chromatin architecture underlies progressive impairment of the heat shock response in mouse models of Huntington disease. J Clin Invest 2011;121:3306 3319.[http://dx.doi.org/10.1172/JCI57413] [ Links ] 15. Bauer PO, Nukina N. The pathogenic mechanisms of polyglutamine diseases and current therapeutic strategies. J Neurochem 2009;110:1737-1765. [http://dx.doi.org/10.1111/j.1471-4159.2009.06302.x] [ Links ] 16. Ross CA, Tabrizi SJ. Huntington's disease: from molecular pathogenesis to clinical treatment. Lancet Neurol 2011;10:83-98. [http://dx.doi.org/10.1016/S1474-4422(10)70245-3] [ Links ] 17. Landwehrmeyer GB, Dubois B, de Yebenes JG, et al. Riluzole in Huntington's disease: a 3-year, randomized controlled study. Ann Neurol 2007;62:262-272. [http://dx.doi.org/10.1002/ana.21181] [ Links ] 18. Vaishnaw AK, Gollob J, Gamba-Vitalo C, et al. A status report on RNAi therapeutics. Silence 2010;1:1 13. [http://dx.doi.org/10.1186/1758-907X-1-14] [ Links ] 19. Sah DWY, Aronin N. Oligonucleotide therapeutic approaches for Huntington disease. J Clin Invest 2011;121:500-507. [http://dx.doi.org/10.1172/JCI45130] [ Links ] 20. Bryer A, Krause A, Bill P, et al. The hereditary adult-onset ataxias in South Africa. J Neurol Sci 2003;216:47-54. [http://dx.doi.org/10.1016/S0022-510X(03)00209-0] [ Links ] 21. Ramesar RS, Bardien S, Beighton P, Bryer A. Expanded CAG repeats in spinocerebellar ataxia (SCA1) segregate with distinct haplotypes in South African families. Hum Genet 1997;100:131-137. [http://dx.doi.org/10.1007/s004390050478] [ Links ] 22. Scholefield J, Greenberg J. A common SNP haplotype provides molecular proof of a founder effect of Huntington disease linking two South African populations. Eur J Hum Genet 2007;15:590-595. [http://dx.doi.org/10.1038/sj.ejhg.5201796] [ Links ] 23. Greenberg J, Solomon G, Vorster A, Heckmann J, Bryer A. Origin of the SCA7 gene mutation in South Africa: implications for molecular diagnostics. Clin Genet 2006;70:415-417. [http://dx.doi.org/10.1111/j.1399-0004.2006.00680.x] [ Links ] 24. Scholefield J, Greenberg LJ, Weinberg MS, Arbuthnot PB, Abdelgany A, Wood MJA. Design of RNAi hairpins for mutation-specific silencing of ataxin-7 and correction of a SCA7 phenotype. PLoS ONE 2009;4:e7232. [http://dx.doi.org/10.1371/journal.pone.0007232] [ Links ] |