Essentials of Cerebellum and Cerebellar Disorders - A Primer For Graduate Students
Essentials of Cerebellum and Cerebellar Disorders - A Primer For Graduate Students
复制标题
小脑和小脑疾病的要点 - 研究生入门
DOI：
10.1007/978-3-031-15070-8_69
复制
发表时间：
2023
期刊：
影响因子：
--
通讯作者：
Ibrahim M
中科院分区：
文献类型：
--
作者：
Ibrahim M
Moonwalker（Mwk）小鼠是一种显性共济失调小鼠模型，其遗传性小脑共济失调由TRPC 3阳离子通道基因的功能获得性突变引起。Mwk小鼠表现出明显的共济失调、浦肯野细胞发育受损、浦肯野细胞兴奋性改变和小脑中TRPC 3表达神经元的缺失。最近，失调mGluR 1-TRPC 3信号已牵连在多种人类脊髓小脑共济失调。在这里，我们讨论的行为，形态和功能的变化inMwkmice强调其相关性的人类脊髓小脑共济失调。
The Moonwalker (Mwk) mouse is a dominant ataxic mouse model of inherited cerebellar ataxia caused by a gain-of-function mutation in the gene encoding the TRPC3 cation channel.Mwkmice display overt ataxia, impaired Purkinje cell development, altered Purkinje cell excitability and loss of TRPC3-expressing neurons in the cerebellum. Recently, dysregulated mGluR1-TRPC3 signalling has been implicated in multiple human spinocerebellar ataxias. Here, we discuss the behavioural, morphological, and functional changes inMwkmice with an emphasis on their relevance to the human spinocerebellar ataxias.