Neural cell recognition molecule L1: relating biological complexity to human disease mutations

被引：207

作者：

Kenwrick, S ^{[1
]}

Watkins, A

De Angelis, E

机构：

[1] Univ Cambridge, Addenbrookes Hosp, Wellcome Trust Ctr Study Mol Mechanisms Dis, Cambridge CB2 2XY, England

[2] Univ Cambridge, Addenbrookes Hosp, Dept Med, Cambridge CB2 2XY, England

来源：

HUMAN MOLECULAR GENETICS | 2000年 / 9卷 / 06期

关键词：

D O I：

10.1093/hmg/9.6.879

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：

Human single gene disorders that affect the nervous system provide a host of natural mutations that can be deployed in the quest to understand its development and function. A paradigm for this approach is the study of disorders caused by mutations in the gene for the neural cell recognition molecule L1. L1 is the founder member of a subfamily of cell adhesion molecules that are primarily expressed in the nervous system, and to date it is the only one to be associated with a hereditary disease. In this review we will summarize how the analysis of pathological mutations in L1 is complementing the study of mouse models and in vitro analysis of L1 function.

引用

页码：879 / 886

页数：8

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[1] CAMs and FGF cause a local submembrane calcium signal promoting axon outgrowth without a rise in bulk calcium concentration [J].