Ataxia and abnormal cerebellar microorganization in mice with ablated contactin gene expression.

Berglund EO; Murai KK; Fredette B; Sekerkova G; Marturano B; Weber L; Mugnaini E; Ranscht B

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Ataxia and abnormal cerebellar microorganization in mice with ablated contactin gene expression.

机译：消融contactin基因表达的小鼠共济失调和小脑微器官异常。

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Axon guidance and target recognition depend on neuronal cell surface receptors that recognize and elicit selective growth cone responses to guidance cues in the environment. Contactin, a cell adhesion/recognition molecule of the immunoglobulin gene superfamily, regulates axon growth and fasciculation in vitro, but its role in vivo is unknown. To assess its function in the developing nervous system, we have ablated contactin gene expression in mice. Contactin-/- mutants displayed a severe ataxic phenotype consistent with defects in the cerebellum and survived only until postnatal day 18. Analysis of the contactin-/- mutant cerebellum revealed defects in granule cell axon guidance and in dendritic projections from granule and Golgi cells. These results demonstrate that contactin controls axonal and dendritic interactions of cerebellar interneurons and contributes to cerebellar microorganization.

机译：轴突导向和靶标识别取决于神经元细胞表面受体，其识别并引发对环境中导向线索的选择性生长锥反应。接触蛋白是免疫球蛋白基因超家族的一种细胞粘附/识别分子，它在体外调节轴突的生长和絮凝，但在体内的作用尚不清楚。为了评估其在发育中的神经系统中的功能，我们已经消除了小鼠中的contactin基因表达。 Contactin-/-突变型显示出严重的共济失调表型，与小脑的缺陷一致，并且仅存活至出生后第18天。对contactin-/-突变型小脑的分析显示，颗粒细胞轴突导向以及颗粒和高尔基细胞的树突状投影中存在缺陷。这些结果表明，接触素控制小脑中间神经元的轴突和树突相互作用，并有助于小脑的微组织化。

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《Neuron》 |1999年第3期|共12页
作者
Berglund EO; Murai KK; Fredette B; Sekerkova G; Marturano B; Weber L; Mugnaini E; Ranscht B;
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正文语种 eng
中图分类神经生理学;
关键词
Ataxia; Cell Adhesion Molecules; Neuronal; Cerebellum; neuronal cell surface protein F3; 共济失调; 细胞粘着分子; 神经元; 小脑;

机译：Ataxia;Cell Adhesion Molecules;Neuronal;Cerebellum;neuronal cell surface protein F3;共济失调;细胞粘着分子;神经元;小脑;

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1. Ataxia and abnormal cerebellar microorganization in mice with ablated contactin gene expression. [J] . Berglund EO, Murai KK, Fredette B, Neuron . 1999,第3期

机译：消融contactin基因表达的小鼠共济失调和小脑微器官异常。
2. Defects in the CAPN1 Gene Result in Alterations in Cerebellar Development and Cerebellar Ataxia in Mice and Humans [J] . Yubin Wang, Joshua Hersheson, Dulce Lopez, Cell Reports . 2016,第1期

机译：CAPN1基因的缺陷导致小鼠和人类小脑发育和小脑共济失调的改变
3. Familial agenesis of the cerebellar vermis: a syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation. 1969 (classical article) [J] . Joubert M, Eisenring JJ, Robb JP, Journal of child neurology . 1999,第9期

机译：细胞患者的家族性刺激：巨型肺肿瘤，异常观察，共济失调和延迟的综合征。 1969年（古典文章）
4. Landmark Based Shape Analysis for Cerebellar Ataxia Classification and Cerebellar Atrophy Pattern Visualization [C] . Zhen Yang, S. Mazdak Abulnaga, Aaron Carass, Conference on imaging processing . 2016

机译：基于地标的形状分析用于小脑共济失调分类和小脑萎缩模式的可视化
5. Multiple Approaches to Characterizing Variation in the Neuropsychiatric Candidate Genes SLC6A4, the Contactins, and the Contactin-Associated Proteins [D] . Murdoch, John Daniel. 2012

机译：表征神经精神病候选基因SLC6A4，接触素和与接触素相关的蛋白质变异的多种方法
6. Early postnatal ataxia and abnormal cerebellar development in mice lacking Xeroderma pigmentosum Group A and Cockayne Syndrome Group B DNA repair genes [O] . Machiko Murai, Yasushi Enokido, Naoko Inamura, 2001

机译：缺乏色干性皮肤病A组和Cockayne综合症B组DNA修复基因的小鼠的早期产后共济失调和小脑发育异常
7. Ataxia and Abnormal Cerebellar Microorganization in Mice with Ablated Contactin Gene Expression [O] . Berglund Erik O, Murai Keith K, Fredette Barbara, 1999

机译：Contactin基因表达降低的小鼠共济失调和小脑微组织异常。

Ataxia and abnormal cerebellar microorganization in mice with ablated contactin gene expression.

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