Below you will find a database containing Research Articles on the Angelman Syndrome/
We try to keep it as much up to date as possible. This is done with a team of people who search the internet or contact researches to ask for permission to post their articles. The articles are placed in their original language, most of the time English.
Dan B et al.
European Journal of Paediatric Neurology (2008), doi:10.1016/j.ejpn.2008.08.005
American Journal of Speech Language Pathology
November 2002, Vol. 11.
Koji Yashiro, Thorfinn T Riday, Kathryn H Condon, Adam C Roberts, Danilo R Bernardo, Rohit Prakash, Richard J Weinberg, Michael D Ehlers & Benjamin D Philpot
Nature Neuroscience Advance Online Publication May 10 2009
Melissa Mann & Marisa Bartolomei
Human Molecular Genetics,1999, Vol. 8, No. 109 Review
Angelman syndrome (AS) is a neurogenetic disorder caused by loss of maternal UBE3A expression ormutation-induced dysfunction of its protein product, the E3 ubiquitin–protein ligase, UBE3A. In humans androdents, UBE3A/Ube3a transcript is maternally imprinted in several brain regions, but the distribution ofnative UBE3A/Ube3a1 protein expression has not been comprehensively examined. To address this, wesystematically evaluated Ube3a expression in the brain and peripheral tissues of wild-type (WT) and Ube3amaternal knockout mice (AS mice). Immunoblot and immunohistochemical analyses revealed a marked lossof Ube3a protein in hippocampus, hypothalamus, olfactory bulb, cerebral cortex, striatum, thalamus,midbrain, and cerebellum in AS mice relative to WT littermates. Also, Ube3a expression in heart and liver ofAS mice showed greater than the predicted 50% reduction relative to WT mice. Co-localization studiesshowed Ube3a expression to be primarily neuronal in all brain regions and present in GABAergicinterneurons as well as principal neurons. These findings suggest that neuronal function throughout thebrain is compromised in AS.
Richard Gustin, Terry Jo Bichell, Michael Bubser, Jennifer Daily, Irina Filonova, Davit Mrelashvili, Ariel Y. Deutch, Roger J. Colbran, Edwin J. Weeber, Kevin F. Haas
Neurobiology of Disease 39 (2010) 283–291
The ubiquitin ligase E6-AP is induced and recruited to aggresomes in response to proteasome inhibition and may be involved in the ubiquitination of HSP70 bound misfolded proteins. Mishra A, Godavarthi SK, Maheshwari M, Goswami A, Jana NR. J Biol Chem. 2009 Feb 20
Paul L. Greer, Rikinari Hanayama, Brenda L. Bloodgood, Alan R. Mardinly, David M. Lipton, Steven W. Flavell, Tae-Kyung Kim, Eric C. Griffith, Zachary Waldon, Rene Maehr, Hidde L. Ploegh, Shoaib Chowdhury, Paul F. Worley, Judith Steen, Michael E. Greenberg
Cell 140, 704–716, March 5, 2010 ª2010 Elsevier In
Hülya Nazlican et al
Human Molecular Genetics
2004, Vol. 13, No. 21
Maren Runte et al
114 : 553-561