Neural cell recognition molecule L1: relating biological complexity to human disease mutations
Neural cell recognition molecule L1: relating biological complexity to human disease mutations
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DOI：
10.1093/hmg/9.6.879
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发表时间：
2000-01-01
影响因子：
3.5
通讯作者：
De Angelis, E
中科院分区：
文献类型：
--
作者：
Kenwrick, S;Watkins, A;De Angelis, E
影响神经系统的人类单基因疾病提供了一系列自然突变，可以用来研究其发育和功能。这种方法的一个范例是研究神经细胞识别分子L1的基因突变引起的疾病。L1是主要在神经系统表达的细胞黏附分子亚家族的创始成员，到目前为止，它是唯一与遗传性疾病有关的分子。在这篇综述中，我们将总结L1病理性突变的分析如何补充小鼠模型的研究和L1功能的体外分析。
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.