Defining the role of cerebellar Purkinje cells in autism spectrum disorders.

Defining the role of cerebellar Purkinje cells in autism spectrum disorders.
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DOI:
10.1007/s12311-013-0490-y
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发表时间:
2013-12
期刊:
影响因子:
3.5
通讯作者:
Sudarov, Anamaria
Sudarov, Anamaria
中科院分区:
医学3区
文献类型:
--
作者:
Sudarov, Anamaria

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了解小脑功能障碍对复杂神经系统疾病如自闭症谱系障碍(ASD)的贡献是一个正在进行的研究课题。在最近的一篇论文中,Tsai等人(Nature 488(7413)647-51,2012)使用条件小鼠遗传学、电生理学、行为测试和药理学操作的强大组合来解决脑硬化症复合物1(Tsc 1)在浦肯野细胞和小脑功能中的作用。作者们惊人地发现,浦肯野细胞的形态学和电生理学缺陷与系统性ASD样行为缺陷有关。在这个期刊俱乐部,我讨论这篇论文的主要发现,并批判性地评估这一开创性工作的影响。
Understanding the contribution of cerebellar dysfunction to complex neurological diseases such as autism spectrum disorders (ASD) is an ongoing topic of investigation. In a recent paper, Tsai et al. (Nature 488(7413) 647–51, 2012) used a powerful combination of conditional mouse genetics, electrophysiology, behavioral tests and pharmacological manipulations to address the role of Tuberous sclerosis complex 1 (Tsc1) in Purkinje cells and cerebellar function. The authors make the staggering discovery that morphological and electrophysiological defects in Purkinje cells are linked to systems wide ASD-like behavioral deficits. In this journal club, I discuss the major findings of this paper and critically assess the implications of this seminal work.
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