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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