Expansion explosion: new clues to the pathogenesis of repeat expansion neurodegenerative diseases

被引：69

作者：

Margolis, RL

Ross, CA

机构：

[1] Johns Hopkins Univ, Sch Med, Dept Psychiat, Div Neurobiol, Baltimore, MD 21287 USA

[2] Johns Hopkins Univ, Sch Med, Dept Neurosci, Program Cellular & Mol Med, Baltimore, MD 21287 USA

来源：

TRENDS IN MOLECULAR MEDICINE | 2001年 / 7卷 / 11期

关键词：

D O I：

10.1016/S1471-4914(01)02179-7

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

The expansion in the identification of repeat expansion neurodegenerative diseases is leading to an increase in our understanding of their molecular mechanisms. Neuronal cell death is likely to be caused mainly by genetic gain-of-function mechanisms, with possible contribution from loss-of-function mechanisms as well. Postulated mechanisms involve abnormalities of protein folding, chaperone interactions, alterations in gene transcription, loss of neurotrophic support, and involvement of signal transduction pathways. Understanding the pathogenesis in these diseases is leading to the development of therapeutic strategies.

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页码：479 / 482

页数：4

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