{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,29]],"date-time":"2026-07-29T02:59:19Z","timestamp":1785293959803,"version":"3.55.0"},"reference-count":162,"publisher":"Frontiers Media SA","license":[{"start":{"date-parts":[[2023,10,19]],"date-time":"2023-10-19T00:00:00Z","timestamp":1697673600000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":["frontiersin.org"],"crossmark-restriction":true},"short-container-title":["Front. Cell Dev. Biol."],"abstract":"<jats:p>Angelman syndrome (AS) is an imprinted neurodevelopmental disorder that lacks a cure, characterized by developmental delay, intellectual impairment, seizures, ataxia, and paroxysmal laughter. The condition arises due to the loss of the maternally inherited copy of the <jats:italic>UBE3A<\/jats:italic> gene in neurons. The paternally inherited <jats:italic>UBE3A<\/jats:italic> allele is unable to compensate because it is silenced by the expression of an antisense transcript (<jats:italic>UBE3A-ATS<\/jats:italic>) on the paternal chromosome. <jats:italic>UBE3A<\/jats:italic>, encoding enigmatic E3 ubiquitin ligase variants, regulates target proteins by either modifying their properties\/functions or leading them to degradation through the proteasome. Over time, animal models, particularly the <jats:italic>Ube3a<\/jats:italic><jats:sup>mat\u2212\/pat+<\/jats:sup> Knock-Out (KO) mice, have significantly contributed to our understanding of the molecular mechanisms underlying AS. However, a shift toward human pluripotent stem cell models (PSCs), such as human embryonic stem cells (ESCs) and induced pluripotent stem cells (iPSCs), has gained momentum. These stem cell models accurately capture human genetic and cellular characteristics, offering an alternative or a complement to animal experimentation. Human stem cells possess the remarkable ability to recapitulate neurogenesis and generate \u201cbrain-in-a-dish\u201d models, making them valuable tools for studying neurodevelopmental disorders like AS. In this review, we provide an overview of the current state-of-the-art human stem cell models of AS and explore their potential to become the preclinical models of choice for drug screening and development, thus propelling AS therapeutic advancements and improving the lives of affected individuals.<\/jats:p>","DOI":"10.3389\/fcell.2023.1274040","type":"journal-article","created":{"date-parts":[[2023,10,19]],"date-time":"2023-10-19T07:10:30Z","timestamp":1697699430000},"update-policy":"https:\/\/doi.org\/10.3389\/crossmark-policy","source":"Crossref","is-referenced-by-count":8,"title":["Stem cell models of Angelman syndrome"],"prefix":"10.3389","volume":"11","author":[{"given":"Jo\u00e3o","family":"Cam\u00f5es dos Santos","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Carolina","family":"Appleton","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Francisca","family":"Cazaux Mateus","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Rita","family":"Covas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Evguenia Pavlovna","family":"Bekman","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sim\u00e3o Teixeira","family":"da Rocha","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"1965","published-online":{"date-parts":[[2023,10,19]]},"reference":[{"key":"B1","doi-asserted-by":"publisher","first-page":"e0258766","DOI":"10.1371\/journal.pone.0258766","article-title":"New genes involved in Angelman syndrome-like: expanding the genetic spectrum","volume":"16","author":"Aguilera","year":"2021","journal-title":"PLOS ONE"},{"key":"B2","doi-asserted-by":"publisher","first-page":"75","DOI":"10.1038\/ng0997-75","article-title":"Imprinted expression of the murine Angelman syndrome gene, Ube3a, in hippocampal and Purkinje neurons","volume":"17","author":"Albrecht","year":"1997","journal-title":"Nat. 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