Interested in what research has been published about AS?
Dr. Ed Weeber will tell us how we can search for information and some of the latest research happening around the globe.
How can you get published scientific articles concerning Angelman syndrome research? By accessing the free data base called PubMed( www. pubmed. gov). This valuable resource is developed and maintained by the National Center for Biotechnology Information( NCBI) at the National Library of Medicine( NLM) and contains more than 20 million references to scientific articles. The search function allows single or multiple terms to narrow the number of“ hits”. In addition, you can search for authors in order to find all of the publications from a specific researcher. Many of these publications are free and all of them have an abstract to describe the research. A search for the term“ Angelman syndrome” will reveal 1300 publications with the earliest dating back to 1950. To make the science a little easier to digest, every issue will present a selection of the latest published scientific articles with Angelman syndrome in the title, abstract or key words section of the paper. Below are some recent papers that have come out in the last few months.
Title: Recurrent fractures as a new skeletal problem in the course of Angelman syndrome. Journal: Bone Authors: Rusińska A, Dzwonek AB, Chlebna-Sokół D. Department of Pediatric Propedeutics and Metabolic Bone Diseases, Medical University of Lodz, Poland; Maria Konopnicka Memorial Teaching Hospital No. 4, Medical University of Lodz, Poland.
Abstract: Angelman syndrome is a genetically inherited syndrome with severe retardation of psychomotor development and speech disturbances, usually accompanied by epilepsy, typical dysmorphic features, and some skeletal symptoms. The aim of the current report is to present new skeletal symptoms which may occur in the course of AS, based on a case report of an 8- year-old girl with confirmed 15q11; 12 microdeletion and recurrent low-trauma bone fractures. According to our knowledge it is the first report of such skeletal symptoms in patient with a diagnosis of AS.
Title: Role of the ubiquitin ligase E6AP / UBE3A in controlling levels of the synaptic protein Arc. Journal: Proc Natl Acad Sci U S A Authors: Kühnle S, Mothes B, Matentzoglu K, Scheffner M. Department of Biology and Konstanz Research School Chemical Biology, University of Konstanz, 78457 Konstanz, Germany.
Abstract: Inactivation of the ubiquitin ligase E6 associated protein( E6AP) encoded by the UBE3A gene has been associated with development of the Angelman syndrome. Recently, it was reported that in mice, loss of E6AP expression results in increased levels of the synaptic protein Arc and a concomitant impaired synaptic function, providing an explanation for some phenotypic features of Angelman syndrome patients. Accordingly, E6AP has been shown to negatively regulate activity-regulated cytoskeleton-associated protein( Arc) and it has been suggested that E6AP targets Arc for ubiquitination and degradation. In our study, we provide evidence that Arc is not a direct substrate for E6AP and binds only weakly to E6AP, if at all. Furthermore, we show that down-regulation of E6AP expression stimulates estradiol-induced transcription of the Arc gene. Thus, we propose that Arc protein levels are controlled by E6AP at the transcriptional rather than at the posttranslational level.
Title: Proteomic profiling in Drosophila reveals potential Dube3a regulation of the actin cytoskeleton and neuronal homeostasis. Journal: PLoS One Authors: Jensen L, Farook MF, Reiter LT. Department of Neurology, University of Tennessee Health Science Center, Memphis, Tennessee, United States of America.
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