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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
MeSH Review

Angelman Syndrome

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Disease relevance of Angelman Syndrome


Psychiatry related information on Angelman Syndrome


High impact information on Angelman Syndrome


Chemical compound and disease context of Angelman Syndrome


Biological context of Angelman Syndrome


Gene context of Angelman Syndrome

  • As is the case with SNRPN, PWS patients with 15q11-q13 deletions do not express IPW, whereas expression is normal in Angelman syndrome patients [23].
  • Mutations in NIPA1 (Nonimprinted in Prader-Willi/Angelman syndrome 1) have recently been identified as a cause of autosomal dominant pure HSP, with one mutation described in two unrelated families [24].
  • The human gene for the poly(A)-specific ribonuclease (PARN) maps to 16p13 and has a truncated copy in the Prader-Willi/Angelman syndrome region on 15q11-->q13 [25].
  • Identification of tandemly-repeated C/D snoRNA genes at the imprinted human 14q32 domain reminiscent of those at the Prader-Willi/Angelman syndrome region [26].
  • These data suggest that, like the candidate Angelman syndrome gene Ube3a (ubiquitin ligase), Usp29 may represent another imprinted gene involved in the ubiquitination pathway [27].

Analytical, diagnostic and therapeutic context of Angelman Syndrome


  1. Paternal uniparental disomy of chromosome 15 in a child with Angelman syndrome. Nicholls, R.D., Pai, G.S., Gottlieb, W., Cantú, E.S. Ann. Neurol. (1992) [Pubmed]
  2. Phenotypic differences in Angelman syndrome patients: imprinting mutations show less frequently microcephaly and hypopigmentation than deletions. Bürger, J., Kunze, J., Sperling, K., Reis, A. Am. J. Med. Genet. (1996) [Pubmed]
  3. Levodopa responsive Parkinsonism in adults with Angelman Syndrome. Harbord, M. Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia. (2001) [Pubmed]
  4. Toxic hepatitis in a case of Angelman syndrome associated with Lennox-Gastaut syndrome. Deda, G., Caksen, H., Kansu, A., Girgin, N., Suskan, E., Uysal, S., Tükün, A. Genetic counseling (Geneva, Switzerland) (2004) [Pubmed]
  5. Angelman syndrome. Schneider, B.B., Maino, D.M. Journal of the American Optometric Association. (1993) [Pubmed]
  6. The Angelman syndrome-associated protein, E6-AP, is a coactivator for the nuclear hormone receptor superfamily. Nawaz, Z., Lonard, D.M., Smith, C.L., Lev-Lehman, E., Tsai, S.Y., Tsai, M.J., O'Malley, B.W. Mol. Cell. Biol. (1999) [Pubmed]
  7. Epigenetic overlap in autism-spectrum neurodevelopmental disorders: MECP2 deficiency causes reduced expression of UBE3A and GABRB3. Samaco, R.C., Hogart, A., LaSalle, J.M. Hum. Mol. Genet. (2005) [Pubmed]
  8. Effects of a low dose of melatonin on sleep in children with Angelman syndrome. Zhdanova, I.V., Wurtman, R.J., Wagstaff, J. Journal of pediatric endocrinology & metabolism : JPEM. (1999) [Pubmed]
  9. A novel maternally expressed gene, ATP10C, encodes a putative aminophospholipid translocase associated with Angelman syndrome. Meguro, M., Kashiwagi, A., Mitsuya, K., Nakao, M., Kondo, I., Saitoh, S., Oshimura, M. Nat. Genet. (2001) [Pubmed]
  10. Imprinting of the Angelman syndrome gene, UBE3A, is restricted to brain. Vu, T.H., Hoffman, A.R. Nat. Genet. (1997) [Pubmed]
  11. Imprinted expression of the murine Angelman syndrome gene, Ube3a, in hippocampal and Purkinje neurons. Albrecht, U., Sutcliffe, J.S., Cattanach, B.M., Beechey, C.V., Armstrong, D., Eichele, G., Beaudet, A.L. Nat. Genet. (1997) [Pubmed]
  12. A gene for the mouse pink-eyed dilution locus and for human type II oculocutaneous albinism. Rinchik, E.M., Bultman, S.J., Horsthemke, B., Lee, S.T., Strunk, K.M., Spritz, R.A., Avidano, K.M., Jong, M.T., Nicholls, R.D. Nature (1993) [Pubmed]
  13. Familial Angelman syndrome caused by imprinted submicroscopic deletion encompassing GABAA receptor beta 3-subunit gene. Saitoh, S., Kubota, T., Ohta, T., Jinno, Y., Niikawa, N., Sugimoto, T., Wagstaff, J., Lalande, M. Lancet (1992) [Pubmed]
  14. High-dose ethosuximide for epilepsy in Angelman syndrome: implication of GABA(A) receptor subunit. Sugiura, C., Ogura, K., Ueno, M., Toyoshima, M., Oka, A. Neurology (2001) [Pubmed]
  15. Pharmacologic evidence for abnormal thalamocortical functioning in GABA receptor beta3 subunit-deficient mice, a model of Angelman syndrome. Handforth, A., Delorey, T.M., Homanics, G.E., Olsen, R.W. Epilepsia (2005) [Pubmed]
  16. Adverse effects of vigabatrin in Angelman syndrome. Kuenzle, C., Steinlin, M., Wohlrab, G., Boltshauser, E., Schmitt, B. Epilepsia (1998) [Pubmed]
  17. Decrease in benzodiazepine receptor binding in a patient with Angelman syndrome detected by iodine-123 iomazenil and single-photon emission tomography. Odano, I., Anezaki, T., Ohkubo, M., Yonekura, Y., Onishi, Y., Inuzuka, T., Takahashi, M., Tsuji, S. European journal of nuclear medicine. (1996) [Pubmed]
  18. Genomic inversions of human chromosome 15q11-q13 in mothers of Angelman syndrome patients with class II (BP2/3) deletions. Gimelli, G., Pujana, M.A., Patricelli, M.G., Russo, S., Giardino, D., Larizza, L., Cheung, J., Armengol, L., Schinzel, A., Estivill, X., Zuffardi, O. Hum. Mol. Genet. (2003) [Pubmed]
  19. Mice lacking the beta3 subunit of the GABAA receptor have the epilepsy phenotype and many of the behavioral characteristics of Angelman syndrome. DeLorey, T.M., Handforth, A., Anagnostaras, S.G., Homanics, G.E., Minassian, B.A., Asatourian, A., Fanselow, M.S., Delgado-Escueta, A., Ellison, G.D., Olsen, R.W. J. Neurosci. (1998) [Pubmed]
  20. Counselling dilemmas associated with the molecular characterisation of two Angelman syndrome families. Gilbert, H.L., Buxton, J.L., Chan, C.T., McKay, T., Cottrell, S., Ramsden, S., Winter, R.M., Pembrey, M.E., Malcolm, S. J. Med. Genet. (1997) [Pubmed]
  21. Linkage disequilibrium at the Angelman syndrome gene UBE3A in autism families. Nurmi, E.L., Bradford, Y., Chen, Y., Hall, J., Arnone, B., Gardiner, M.B., Hutcheson, H.B., Gilbert, J.R., Pericak-Vance, M.A., Copeland-Yates, S.A., Michaelis, R.C., Wassink, T.H., Santangelo, S.L., Sheffield, V.C., Piven, J., Folstein, S.E., Haines, J.L., Sutcliffe, J.S. Genomics (2001) [Pubmed]
  22. The role of genomic imprinting in human developmental disorders: lessons from Prader-Willi syndrome. Hanel, M.L., Wevrick, R. Clin. Genet. (2001) [Pubmed]
  23. Identification of a novel paternally expressed gene in the Prader-Willi syndrome region. Wevrick, R., Kerns, J.A., Francke, U. Hum. Mol. Genet. (1994) [Pubmed]
  24. A novel NIPA1 mutation associated with a pure form of autosomal dominant hereditary spastic paraplegia. Reed, J.A., Wilkinson, P.A., Patel, H., Simpson, M.A., Chatonnet, A., Robay, D., Patton, M.A., Crosby, A.H., Warner, T.T. Neurogenetics (2005) [Pubmed]
  25. The human gene for the poly(A)-specific ribonuclease (PARN) maps to 16p13 and has a truncated copy in the Prader-Willi/Angelman syndrome region on 15q11-->q13. Buiting, K., Körner, C., Ulrich, B., Wahle, E., Horsthemke, B. Cytogenet. Cell Genet. (1999) [Pubmed]
  26. Identification of tandemly-repeated C/D snoRNA genes at the imprinted human 14q32 domain reminiscent of those at the Prader-Willi/Angelman syndrome region. Cavaillé, J., Seitz, H., Paulsen, M., Ferguson-Smith, A.C., Bachellerie, J.P. Hum. Mol. Genet. (2002) [Pubmed]
  27. Discovery of a novel, paternally expressed ubiquitin-specific processing protease gene through comparative analysis of an imprinted region of mouse chromosome 7 and human chromosome 19q13.4. Kim, J., Noskov, V.N., Lu, X., Bergmann, A., Ren, X., Warth, T., Richardson, P., Kouprina, N., Stubbs, L. Genome Res. (2000) [Pubmed]
  28. Microarray analysis of gene/transcript expression in Angelman syndrome: deletion versus UPD. Bittel, D.C., Kibiryeva, N., Talebizadeh, Z., Driscoll, D.J., Butler, M.G. Genomics (2005) [Pubmed]
  29. FISH detection of chromosome 15 deletions in Prader-Willi and Angelman syndromes. Teshima, I., Chadwick, D., Chitayat, D., Kobayashi, J., Ray, P., Shuman, C., Siegel-Bartelt, J., Strasberg, P., Weksberg, R. Am. J. Med. Genet. (1996) [Pubmed]
  30. Analysis of the characteristics of epilepsy in 37 patients with the molecular diagnosis of Angelman syndrome. Galván-Manso, M., Campistol, J., Conill, J., Sanmartí, F.X. Epileptic disorders : international epilepsy journal with videotape. (2005) [Pubmed]
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