Emerging pathogenic pathways in the spinocerebellar ataxias

被引：63

作者：

Carlson, Kerri M. ^{[1
]}

Andresen, J. Michael ^{[1
,2
]}

Orr, Harry T. ^{[1
,2
,3
]}

机构：

[1] Univ Minnesota, Inst Human Genet, Minneapolis, MN 55455 USA

[2] Univ Minnesota, Dept Lab Med & Pathol, Minneapolis, MN 55455 USA

[3] Univ Minnesota, Dept Biochem Biophys & Mol Biol, Minneapolis, MN 55455 USA

来源：

CURRENT OPINION IN GENETICS & DEVELOPMENT | 2009年 / 19卷 / 03期

关键词：

HISTONE ACETYLTRANSFERASE ACTIVITY; UBIQUITIN-PROTEASOME PATHWAY; CEREBELLAR-ATAXIA; PURKINJE-CELLS; POLYGLUTAMINE EXPANSION; TRANSGENIC MICE; ROR-ALPHA; PROTEIN; GENE; MUTATIONS;

D O I：

10.1016/j.gde.2009.02.009

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

The spinocerebellar ataxias (SCAs) are diseases characterized by neurodegeneration of the spinocerebellum. To date, 28 autosomal dominant SCAs have been described and seventeen causative genes identified. These genes play a role in a broad range of cellular processes. Recent studies focused on the wild type and pathogenic functions of these genes implicate both gene expression and glutamate-dependent and calcium-dependent neuronal signaling as important pathways leading to cerebellar dysfunction. Understanding how these genes cause disease will allow a deeper understanding of the cerebellum in particular as well as neurodegenerative disease in general.

引用

页码：247 / 253

页数：7

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