Please use this identifier to cite or link to this item: https://dora.health.qld.gov.au/qldresearchjspui/handle/1/2824
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dc.contributor.authorHeussler, Helenen
dc.date.accessioned2022-11-07T23:35:39Z-
dc.date.available2022-11-07T23:35:39Z-
dc.date.issued2021en
dc.identifier.citation34, (2), 2021, p. 123-128en
dc.identifier.otherRISen
dc.identifier.urihttp://dora.health.qld.gov.au/qldresearchjspui/handle/1/2824-
dc.description.abstractPURPOSE OF REVIEW: This review describes current understandings in the search for therapies to support children with Angelman syndrome. There is a rapid progression in particular in genetic therapies in this disorder supported by the Angelman community. RECENT FINDINGS: Recent papers shed light on the timing of therapies and novel genetic therapies coming to trial as well as potential therapies still in preclinical phases. Further understanding of UBE3A and its role in neuronal development and plasticity as well as other mechanisms contributing to the Angelman phenotype is offering an opportunity for novel therapeutics. SUMMARY: Greater understanding of the pathophysiology of the different phenotypes will offer an opportunity for novel therapeutics and may well change the course of this disorder over time where previously there has been minimal ability to intervene.L6339320162021-01-20 <br />2021-10-11 <br />en
dc.language.isoenen
dc.relation.ispartofCurrent opinion in psychiatryen
dc.titleEmerging Therapies and challenges for individuals with Angelman syndromeen
dc.typeArticleen
dc.identifier.doi10.1097/YCO.0000000000000674en
dc.subject.keywordshappy puppet syndromeen
dc.subject.keywordsgeneticsen
dc.subject.keywordsgene therapyen
dc.subject.keywordsubiquitin protein ligaseen
dc.subject.keywordshumanen
dc.subject.keywordsNCT04304482en
dc.subject.keywordsNCT03882918en
dc.subject.keywordsUBE3A protein, humanen
dc.subject.keywordsphenotypeen
dc.subject.keywordsNCT03614663NCT03802799en
dc.relation.urlhttps://www.embase.com/search/results?subaction=viewrecord&id=L633932016&from=exporthttp://dx.doi.org/10.1097/YCO.0000000000000674 |en
dc.identifier.risid1245en
dc.description.pages123-128en
item.languageiso639-1en-
item.fulltextNo Fulltext-
item.grantfulltextnone-
item.openairetypeArticle-
item.openairecristypehttp://purl.org/coar/resource_type/c_18cf-
item.cerifentitytypePublications-
Appears in Sites:Children's Health Queensland Publications
Queensland Health Publications
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