{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,1,31]],"date-time":"2026-01-31T08:08:30Z","timestamp":1769846910856,"version":"3.49.0"},"reference-count":16,"publisher":"Informa UK Limited","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2022,3,1]]},"abstract":"<jats:title>Abstract<\/jats:title>\n                  <jats:p>Angelman syndrome (AS) is a neurogenetic disorder characterized by delays including a severe expressive language delay, motor concerns, ataxia, epilepsy, sleep disturbances, gastrointestinal problems, and characteristic behaviors, including a happy demeanor, hyperactivity, and excitability. The syndrome is one of the first neurodevelopmental disorders with a clear trajectory towards meaningful treatment with approximately 20 companies actively developing targeted therapeutics for AS. Herein, we highlight the historical context of the road to therapeutics and some of the challenges in the field with the potential to impact the success of clinical trials for Angelman syndrome and also have relevance of other neurogenetic developmental disabilities.<\/jats:p>","DOI":"10.1352\/1944-7558-127.2.95","type":"journal-article","created":{"date-parts":[[2022,2,18]],"date-time":"2022-02-18T17:46:12Z","timestamp":1645206372000},"page":"95-98","source":"Crossref","is-referenced-by-count":1,"title":["The Road to Personalized Therapies: Lessons Learned From Angelman Syndrome"],"prefix":"10.1080","volume":"127","author":[{"given":"Jessica","family":"Duis","sequence":"first","affiliation":[{"name":"Jessica Duis, Children's Hospital Colorado"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"301","published-online":{"date-parts":[[2022,2,18]]},"reference":[{"key":"2022021822455960700_i1944-7558-127-2-95-Baker1","doi-asserted-by":"crossref","unstructured":"Baker,\n              E. 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D.\n          (2011).\n\t\t\t\t\tTopoisomerase inhibitors unsilence the dormant allele of Ube3a in neurons.\n\t\t\t\t\tNature, 481(7380),\n\t\t\t\t\t185\u2013\n\t\t\t\t\t189.\n\t\t\t\t\thttp:\/\/dx.doi.org\/10.1038\/nature10726","DOI":"10.1038\/nature10726"},{"key":"2022021822455960700_i1944-7558-127-2-95-Jiang1","doi-asserted-by":"crossref","unstructured":"Jiang,\n              Y. H.,\n            \n            \n              Armstrong,\n              D.,\n            \n            \n              Albrecht,\n              U.,\n            \n            \n              Atkins,\n              C. M.,\n            \n            \n              Noebels,\n              J. L.,\n            \n            \n              Eichele,\n              G.,\n            \n            \n              Sweatt,\n              J. D.,\n             &\n\t\t\t\t\t\tBeaudet,A. L.\n          (1998).\n\t\t\t\t\tMutation of the Angelman ubiquitin ligase in mice causes increased cytoplasmic p53 and deficits of contextual learning and long-term potentiation.\n\t\t\t\t\tNeuron, 21(4),\n\t\t\t\t\t799\u2013\n\t\t\t\t\t811.\n\t\t\t\t\thttp:\/\/dx.doi.org\/10.1016\/s0896-6273(00)80596-6","DOI":"10.1016\/S0896-6273(00)80596-6"},{"key":"2022021822455960700_i1944-7558-127-2-95-Kishino1","doi-asserted-by":"crossref","unstructured":"Kishino,\n              T.,\n            \n            \n              Lalande,\n              M.,\n             &\n\t\t\t\t\t\tWagstaff,J.\n          (1997).\n\t\t\t\t\tUBE3A\/E6-AP mutations cause Angelman syndrome.\n\t\t\t\t\tNature Genetics, 15(1),\n\t\t\t\t\t70\u2013\n\t\t\t\t\t73.\n\t\t\t\t\thttp:\/\/dx.doi.org\/10.1038\/ng0197-70","DOI":"10.1038\/ng0197-70"},{"key":"2022021822455960700_i1944-7558-127-2-95-Kolevzon1","doi-asserted-by":"crossref","unstructured":"Kolevzon,\n              A.,\n            \n            \n              Ventola,\n              P.,\n            \n            \n              Keary,\n              C. J.,\n            \n            \n              Heimer,\n              G.,\n            \n            \n              Neul,\n              J. L.,\n            \n            \n              Adera,\n              M.,\n             &\n\t\t\t\t\t\tJaeger,J.\n          (2021).\n\t\t\t\t\tDevelopment of an adapted Clinical Global Impression scale for use in Angelman syndrome.\n\t\t\t\t\tJournal of Neurodevelopmental Disorders, 13(1),\n\t\t\t\t\t3.\n\t\t\t\t\thttp:\/\/dx.doi.org\/10.1186\/s11689-020-09349-8","DOI":"10.1186\/s11689-020-09349-8"},{"key":"2022021822455960700_i1944-7558-127-2-95-Knoll1","unstructured":"Knoll,\n              J. H.,\n            \n            \n              Nicholls,\n              R. D.,\n            \n            \n              Magenis,\n              R. E.,\n            \n            \n              Glatt,\n              K.,\n            \n            \n              Graham,\n              J. 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L.,\n             &\n\t\t\t\t\t\tRigo,F.\n          (2015).\n\t\t\t\t\tTowards a therapy for Angelman syndrome by targeting a long non-coding RNA.\n\t\t\t\t\tNature, 518(7539),\n\t\t\t\t\t409\u2013\n\t\t\t\t\t412.\n\t\t\t\t\thttp:\/\/dx.doi.org\/10.1038\/nature13975","DOI":"10.1038\/nature13975"},{"key":"2022021822455960700_i1944-7558-127-2-95-Ostrowski1","doi-asserted-by":"crossref","unstructured":"Ostrowski,\n              L. M.,\n            \n            \n              Spencer,\n              E. R.,\n            \n            \n              Bird,\n              L. M.,\n            \n            \n              Thibert,\n              R.,\n            \n            \n              Komorowski,\n              R. W.,\n            \n            \n              Kramer,\n              M. A.,\n             &\n\t\t\t\t\t\tChu,C. J.\n          (2021).\n\t\t\t\t\tDelta power robustly predicts cognitive function in Angelman syndrome.\n\t\t\t\t\tAnnals of Clinical and Translational Neurology, 8(7),\n\t\t\t\t\t1433\u2013\n\t\t\t\t\t1445.\n\t\t\t\t\thttp:\/\/dx.doi.org\/10.1002\/acn3.51385","DOI":"10.1002\/acn3.51385"},{"key":"2022021822455960700_i1944-7558-127-2-95-Rougeulle1","doi-asserted-by":"crossref","unstructured":"Rougeulle,\n              C.,\n            \n            \n              Glatt,\n              H.,\n             &\n\t\t\t\t\t\tLalande,M.\n          (1997).\n\t\t\t\t\tThe Angelman syndrome candidate gene, UBE3A\/E6-AP, is imprinted in brain.\n\t\t\t\t\tNature Genetics, 17(1),\n\t\t\t\t\t14\u2013\n\t\t\t\t\t15.\n\t\t\t\t\thttp:\/\/dx.doi.org\/10.1038\/ng0997-14","DOI":"10.1038\/ng0997-14"},{"key":"2022021822455960700_i1944-7558-127-2-95-Willgoss1","doi-asserted-by":"crossref","unstructured":"Willgoss,\n              T.,\n            \n            \n              Cassater,\n              D.,\n            \n            \n              Connor,\n              S.,\n            \n            \n              Krishnan,\n              M. L.,\n            \n            \n              Miller,\n              M. T.,\n            \n            \n              Dias-Barbosa,\n              C.,\n            \n            \n              Phillips,\n              D.,\n            \n            \n              McCormack,\n              J.,\n            \n            \n              Bird,\n              L. M.,\n            \n            \n              Burdine,\n              R. D.,\n            \n            \n              Claridge,\n              S.,\n             &\n\t\t\t\t\t\tBichell,T. J.\n          (2020).\n\t\t\t\t\tMeasuring what matters to individuals with Angelman syndrome and their families: Development of a patient-centered disease concept model.\n\t\t\t\t\tChild Psychiatry & Human Development, 52(4),\n\t\t\t\t\t654\u2013\n\t\t\t\t\t668.\n\t\t\t\t\thttp:\/\/dx.doi.org\/10.1007\/s10578-020-01051-z","DOI":"10.1007\/s10578-020-01051-z"}],"container-title":["American Journal on Intellectual and Developmental Disabilities"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/meridian.allenpress.com\/ajidd\/article-pdf\/127\/2\/95\/3017249\/i1944-7558-127-2-95.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"syndication"},{"URL":"https:\/\/meridian.allenpress.com\/ajidd\/article-pdf\/127\/2\/95\/3017249\/i1944-7558-127-2-95.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2026,1,13]],"date-time":"2026-01-13T16:34:58Z","timestamp":1768322098000},"score":1,"resource":{"primary":{"URL":"https:\/\/meridian.allenpress.com\/ajidd\/article\/127\/2\/95\/478037\/The-Road-to-Personalized-Therapies-Lessons-Learned"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,2,18]]},"references-count":16,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2022,2,18]]},"published-print":{"date-parts":[[2022,3,1]]}},"URL":"https:\/\/doi.org\/10.1352\/1944-7558-127.2.95","relation":{},"ISSN":["1944-7558","1944-7515"],"issn-type":[{"value":"1944-7558","type":"electronic"},{"value":"1944-7515","type":"print"}],"subject":[],"published":{"date-parts":[[2022,2,18]]}}}