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
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.
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页码:879 / 886
页数:8
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