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[亨廷顿舞蹈症]

[Huntington disease].

作者信息

Nukina N

机构信息

Molecular Neuropathology Group Brain Science Institute, RIKEN.

出版信息

Rinsho Shinkeigaku. 1997 Dec;37(12):1139-40.

PMID:9577671
Abstract

The gene responsible for Huntington's disease produces a protein with a molecular weight of about 350k, designated huntingtin. We identified both wild-type and mutant huntingtin in the brain and lymphoblastoid cells. Although the function of huntingtin is still unknown, several associated proteins such as HAP1, Ubiquitin-conjugating enzyme, HIP1 and glyceraldehyde-3-phosphate-dehy dorogenase (GAPDH) were reported. We found the huntingtin can associate in vitro with microtubules. Through the process of assembly and disassembly of microtubules, both wild-type and mutant huntingtin associate with microtubules to almost the same degree. The results suggest that huntingtin may have a role in intracellular organelle transport or axonal transport by its association with microtubules. The functional disturbance by expanded polyglutamine stretch may modify the feature of the disease.

摘要

导致亨廷顿舞蹈症的基因产生一种分子量约为350kD的蛋白质,命名为亨廷顿蛋白。我们在大脑和淋巴母细胞中鉴定出了野生型和突变型亨廷顿蛋白。尽管亨廷顿蛋白的功能仍不清楚,但已报道了几种与之相关的蛋白质,如HAP1、泛素结合酶、HIP1和甘油醛-3-磷酸脱氢酶(GAPDH)。我们发现亨廷顿蛋白在体外可与微管结合。通过微管的组装和拆卸过程,野生型和突变型亨廷顿蛋白与微管的结合程度几乎相同。结果表明,亨廷顿蛋白可能通过与微管结合而在细胞内细胞器运输或轴突运输中发挥作用。多聚谷氨酰胺延伸片段的扩增导致的功能紊乱可能会改变疾病的特征。

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