Accès gratuit
Numéro
Med Sci (Paris)
Volume 28, Numéro 6-7, Juin–Juillet 2012
Page(s) 572 - 574
Section Nouvelles
DOI https://doi.org/10.1051/medsci/2012286005
Publié en ligne 16 juillet 2012
  1. Dan B. Angelman syndrome. London : Mac Keith Press, Wiley-Blackwell, 2008 : 256 p.
  2. Kishino T, Lalande M, Wagstaff J. UBE3A/E6-AP mutations cause Angelman syndrome. Nat Genet 1997 ; 15 : 70–73. [CrossRef] [PubMed]
  3. Matsuura T, Sutcliffe JS, Fang P, et al. De novo truncating mutations in E6-AP ubiquitin-protein ligase gene (UBE3A) in Angelman syndrome. Nat Genet 1997 ; 15 : 74–77. [CrossRef] [PubMed]
  4. Greer PL, Hanayama R, Bloodgood BL, et al. The Angelman syndrome protein Ube3A regulates synapse development by ubiquitinating arc. Cell 2010 ; 140 : 704–716. [CrossRef] [PubMed]
  5. Weeber EJ, Jiang YH, Elgersma Y, et al. Derangements of hippocampal calcium/calmodulin-dependent protein kinase II in a mouse model for Angelman mental retardation syndrome. J Neurosci 2003 ; 23 : 2634–2644. [PubMed]
  6. Cheron G, Servais L, Wagstaff J, Dan B. Fast cerebellar oscillation associated with ataxia in a mouse model of Angelman syndrome. Neuroscience 2005 ; 130 : 631–637. [CrossRef] [PubMed]
  7. Rougeulle C, Cardoso C, Fontes M, et al. An imprinted antisense RNA overlaps UBE3A and a second maternally expressed transcript. Nat Genet 1998 ; 19 : 15–16. [CrossRef] [PubMed]
  8. Bird LM, Tan WH, Bacino CA, et al. A therapeutic trial of pro-methylation dietary supplements in Angelman syndrome. Am J Med Genet 2011 ; 155A : 2956–2963. [CrossRef] [PubMed]
  9. Huang HS, Allen JA, Mabb AM, et al. Topoisomerase inhibitors unsilence the dormant allele of Ube3a in neurons. Nature 2011 ; 481 : 185–189. [CrossRef] [PubMed]

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