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Angelman syndrome: a journey through the brain.
The FEBS Journal ( IF 5.4 ) Pub Date : 2020-02-22 , DOI: 10.1111/febs.15258
Carina Maranga 1, 2 , Tiago G Fernandes 1 , Evguenia Bekman 1, 2, 3 , Simão Teixeira da Rocha 2
Affiliation  

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.

中文翻译:

安格曼综合症:穿越大脑的旅程。

Angelman综合征(AS)是由母亲遗传的UBE3A功能丧失引起的不可治愈的神经发育疾病基因。AS的特征是一组明确的症状,即严重的发育迟缓,语言障碍,失控的笑声和共济失调。当前对AS病理生理学的了解主要依赖于使用该疾病的鼠模型进行的研究,尽管基于患者来源的干细胞的替代模型正在出现。在这里,我们总结了最近十年有关AS方面研究的三个主要大脑区域的文献:海马,皮层和小脑。我们的综合分析突出了归因于不同大脑区域的主要表型。此外,我们还讨论了当前模型的主要弊端,并指出了在AS方面进行研究的未来方向,这有望使我们对人类的这种疾病进行有效的治疗。
更新日期:2020-02-22
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