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Angelman syndrome: a journey through the brain
Author(s) -
Maranga Carina,
Fernandes Tiago G.,
Bekman Evguenia,
da Rocha Simão Teixeira
Publication year - 2020
Publication title -
the febs journal
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 204
eISSN - 1742-4658
pISSN - 1742-464X
DOI - 10.1111/febs.15258
Subject(s) - angelman syndrome , ube3a , neuroscience , context (archaeology) , disease , ataxia , laughter , neurodevelopmental disorder , medicine , psychology , biology , psychiatry , pathology , genetics , gene , autism , paleontology , ubiquitin ligase , ubiquitin
Angelman syndrome (AS) is an incurable neurodevelopmental disease caused by loss of function of the maternally inherited UBE3A gene. AS is characterized by a defined set of symptoms, namely severe developmental delay, speech impairment, uncontrolled laughter, and ataxia. Current understanding of the pathophysiology of AS relies mostly on studies using the murine model of the disease, although alternative models based on patient‐derived stem cells are now emerging. Here, we summarize the literature of the last decade concerning the three major brain areas that have been the subject of study in the context of AS: hippocampus, cortex, and the cerebellum. Our comprehensive analysis highlights the major phenotypes ascribed to the different brain areas. Moreover, we also discuss the major drawbacks of current models and point out future directions for research in the context of AS, which will hopefully lead us to an effective treatment of this condition in humans.