遗传性痉挛性截瘫的分子基础。

Molecular basis of inherited spastic paraplegias.

作者信息

Casari G, Rugarli E

机构信息

Human Molecular Genetics Unit, Stem Cells Research Institute (SCRI), Dibit--San Raffaele Hospital, Via Olgettina 58, 20132, Milan, Italy.

出版信息

Curr Opin Genet Dev. 2001 Jun;11(3):336-42. doi: 10.1016/s0959-437x(00)00199-4.

DOI:10.1016/s0959-437x(00)00199-4

PMID:11377972

Abstract

Recently, paraplegin and spastin have been found to be mutated in two autosomal forms of hereditary spastic paraplegia. Both proteins harbour a common ATPase domain that expresses a chaperone function. Paraplegin is a nuclear-encoded mitochondrial metalloprotease, while the exact role and subcellular localisation of spastin are still unclear.

摘要

最近，人们发现截瘫蛋白和痉挛蛋白在两种常染色体形式的遗传性痉挛性截瘫中发生了突变。这两种蛋白质都含有一个具有伴侣功能的常见ATP酶结构域。截瘫蛋白是一种核编码的线粒体金属蛋白酶，而痉挛蛋白的确切作用和亚细胞定位仍不清楚。