Effects of carbonic anhydrase VIII deficiency on cerebellar gene expression profiles in the wdl mouse

详细信息    查看全文

• 作者：Jian Yan ; Yan Jiao ; Feng Jiao ; John Stuart ; Leah Rae Donahue ; Wesley G. Beamer ; Xinmin Li ; Bruce A. Roe ; Mark S. LeDoux ; Weikuan Gu
• 关键词：Carbonic anhydrase VIII ; Dystonia ; Ataxia ; Cerebellum ; Calcium signaling ; Inositol triphosphate
• 刊名：Neuroscience Letters
• 出版年：2007
• 出版时间：21 February 2007
• 年：2007
• 卷：413
• 期：3
• 页码：196-201
• 全文大小：139 K

文摘

Recently, the waddles (wdl) mouse was identified as a carbonic anhydrase VIII (Car8) mutant. The mutation is associated with marked deficiency of Car8, an inositol triphosphate receptor 1-binding protein expressed at high levels in cerebellar Purkinje cells. To help unravel the molecular aberrations contributing to motor dysfunction in wdl mice, cerebellar gene expression profiles were examined in the mutants and their wild-type littermates. Genes involved in signaling, cell division, zinc ion-binding, synapse integrity and plasticity were downregulated in wdl mice. Several of the upregulated genes encode proteins that function in the Golgi apparatus which suggests that Car8 deficiency has important effects on synaptic vesicle formation and transport.