88
Views
7
CrossRef citations to date
0
Altmetric
Future Perspective

FXTAS: a bad RNA and a hope for a cure

, &
Pages 249-253 | Published online: 25 Feb 2008

Bibliography

  • Mirkin SM. Expandable DNA repeats and human disease. Nature 2007;447:932-40
  • Orr HT, Zoghbi HY. Trinucleotide repeat disorders. Ann Rev Neurosci 2007;30:575-621
  • Nithianantharajah J, Hannan AJ. Dynamic mutations as digital genetic modulators of brain development, function and dysfunction. Bioessays 2007;29:525-35
  • Riley BE, Orr HT. Polyglutamine neurodegenerative diseases and regulation of transcription: assembling the puzzle. Genes Dev 2006;20:2183-92
  • Albrecht A, Mundlos S. The other trinucleotide repeat: polyalanine expansion disorders. Curr Opin Genet Dev 2005;15:285-93
  • Warren ST. The expanding world of trinucleotide repeats. Science 1996;271:1374-5
  • Hagerman RJ, Leehey M, Heinrichs W, et al. Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X. Neurology 2001;57:127-30
  • Jacquemont S, Hagerman RJ, Hagerman PJ, et al. Fragile-X syndrome and fragile X-associated tremor/ataxia syndrome: two faces of FMR1. Lancet Neurol 2007;6:45-55
  • Hagerman RJ, Ono MY, Hagerman PJ. Recent advances in fragile X: a model for autism and neurodegeneration. Curr Opin Psychiatry 2005;18:490-6
  • Willemsen R, Mientjes E, Oostra BA. FXTAS: a progressive neurologic syndrome associated with Fragile X premutation. Curr Neurol Neurosci Rep 2005;5:405-10
  • Baba Y, Uitti RJ. Fragile X-associated tremor/ataxia syndrome and movements disorders. Curr Opin Neurol 2005;18:393-8
  • Jacquemont S, Hagerman RJ, Leehey M, et al. Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates. Am J Hum Genet 2003;72:869-78
  • Cohen S, Masyn K, Adams J, et al. Molecular and imaging correlates of the fragile X-associated tremor/ataxia syndrome. Neurology 2006;67:1426-31
  • Greco CM, Hagerman RJ, Tassone F, et al. Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers. Brain 2002;125:1760-71
  • Kenneson A, Zhang F, Hagedorn CH, Warren ST. Reduced FMRP and increased FMR1 transcription is proportionally associated with CGG repeat number in intermediate-length and premutation carriers. Hum Mol Genet 2001;10:1449-54
  • Arocena DG, Iwahashi CK, Won N, et al. Induction of inclusion formation and disruption of lamin A/C structure by premutation CGG-repeat RNA in human cultured neural cells. Hum Mol Genet 2005;14:3661-71
  • Jin P, Zarnescu DC, Zhang F, et al. RNA-mediated neurodegeneration caused by the fragile X premutation rCGG repeats in Drosophila. Neuron 2003;39:739-47
  • Ranum LP, Cooper TA. RNA-mediated neuromuscular disorders. Ann Rev Neurosci 2006;29:259-77
  • Berry-Kravis E, Abrams L, Coffey SM, et al. Fragile X-associated tremor/ataxia syndrome: clinical features, genetics, and testing guidelines. Mov Disord 2007;22:2018-30
  • Hagerman PJ, Hagerman RJ. Fragile X-associated tremor/ataxia syndrome – an older face of the fragile X gene. Nat Clin Pract Neurol 2007;3:107-12
  • Sofola OA, Jin P, Qin Y, et al. RNA-binding proteins hnRNP A2/B1 and CUGBP1 suppress fragile X CGG premutation repeat-induced neurodegeneration in a Drosophila model of FXTAS. Neuron 2007;55:565-71
  • Jin P, Duan R, Qurashi A, et al. Pur α binds to rCGG repeats and modulates repeat-mediated neurodegeneration in a Drosophila model of fragile X tremor/ataxia syndrome. Neuron 2007;55:556-64
  • Khalili K, Del Valle L, Muralidharan V, et al. Purα is essential for postnatal brain development and developmentally coupled cellular proliferation as revealed by genetic inactivation in the mouse. Mol Cell Biol 2003;23:6857-75
  • Handa V, Saha T, Usdin K. The fragile X syndrome repeats form RNA hairpins that do not activate the interferon-inducible protein kinase, PKR, but are cut by Dicer. Nucleic Acids Res 2003;31:6243-8
  • Sofola OA, Jin P, Botas J, Nelson DL. Argonaute-2 dependent rescue of a Drosophila model of FXTAS by FRAXE premutation repeat. Hum Mol Genet 2007;16:2326-32
  • De Fougerolles A, Vornlocher HP, Maraganore J, Lieberman J. Interfering with disease: a progress report on siRNA-based therapeutics. Nat Rev Drug Discov 2007;6:443-53
  • Willemsen R, Hoogeveen-Westerveld M, Reis S, et al. The FMR1 CGG repeat mouse displays ubiquitin-positive intranuclear neuronal inclusions; implications for the cerebellar tremor/ ataxia syndrome. Hum Mol Genet 2003;12:949-59

Reprints and Corporate Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

To request a reprint or corporate permissions for this article, please click on the relevant link below:

Academic Permissions

Please note: Selecting permissions does not provide access to the full text of the article, please see our help page How do I view content?

Obtain permissions instantly via Rightslink by clicking on the button below:

If you are unable to obtain permissions via Rightslink, please complete and submit this Permissions form. For more information, please visit our Permissions help page.