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| 蛋白质磷酸化修饰在多聚谷氨酰胺疾病中的研究进展 | |
| 引用本文： | ZHOU Ya-fang,江泓,TANG Jian-guang,唐北沙.蛋白质磷酸化修饰在多聚谷氨酰胺疾病中的研究进展[J].中华医学遗传学杂志,2008,25(4):414-417. |
| 作者姓名： | ZHOU Ya-fang 江泓 TANG Jian-guang 唐北沙 |
| 作者单位： | 1. Department of Neurology,Xiangya Hospiatl.Central South University,Changsha,Hunan,410008 P.R.China 2. 中南大学湘雅医院神经内科,长沙,410008 3. The Second Xiangya Hospital,Central South University,Changsha,Hunan,410008 P.R.China |
| 摘 要： | 多聚谷氨酰胺(polyglutamine,polyQ)疾病是一大组常见的神经退行性疾病,疾病的发生源于致病基因编码区CAG三核苷酸重复扩展突变导致基因的编码蛋白--polyQ蛋白产生多聚谷氨酰胺扩展突变.polyQ疾病的发病机制目前虽然尚未得到完全阐明,但越来越多的研究表明蛋白质的磷酸化修饰在亨廷顿舞蹈病、齿状核红核苍白球路易氏体萎缩症、延髓脊肌萎缩症、遗传性脊髓小脑型共济失调1型、遗传性脊髓小脑型共济失调3型/马查多.约瑟夫病等疾病的发生发展中发挥了重要的作用. |
| 关 键 词： | 多聚谷氨酰胺疾病 蛋白质磷酸化 核内包涵体 |
The advances in research on phosphorylation of polyglutamine disease |
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| ZHOU Ya-fang,JIANG Hong,TANG Jian-guang,TANG Bei-sha.The advances in research on phosphorylation of polyglutamine disease[J].Chinese Journal of Medical Genetics,2008,25(4):414-417. | |
| Authors: | ZHOU Ya-fang JIANG Hong TANG Jian-guang TANG Bei-sha |
| Institution: | Department of Neurology, Xiangya Hospital, Central South University, Changsha, Hunan, 410008 P. R. Chian. bstang7398@yahoo.com.cn. |
| Abstract: | Polyglutamine (polyQ) diseases are a group of hereditary neurodegenerative disorders caused by expansion of a glutamine repeat in responsible gene products. To date, the pathogenesis of polyQ diseases is still not very clear, but many researches suggest that phosphorylation of mutant proteins plays a critical role on the process of Huntington's disease, dentatorubral-pallidoluysian atrophy, spinal bulbar muscular atrophy, spinocerebellar ataxia1 and spinocerebellar ataxia 3/Machado-Joseph disease. |
| Keywords: | polyglutamine diseases phosphorylation nuclear inclusion |
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