Huntington's disease (HD)

亨廷顿舞蹈症

英文解释

Huntington's disease (HD) is an autosomal dominant Neurodegenerative diseases (NDDs) caused by an abnormal expansion of a CAG repeat in the gene encoding for huntingtin, a protein of unknown function.

中文解释

亨廷顿舞蹈病 (HD) 是一种常染色体显性神经退行性疾病 神经退行性疾病，由编码亨廷顿蛋白(一种功能未知的蛋白质)的基因 CAG 重复异常扩增引起。

参考文献

[1]. Mathieu Lesort, et al. Cystamine inhibitscaspase activity. Implications for the treatment of polyglutamine disorders. JBiol Chem. 2003 Feb 7;278(6):3825-30.