Review
doi: 10.1093/hmg/9.6.879.
Neural cell recognition molecule L1: relating biological complexity to human disease mutations
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- PMID: 10767310
- DOI: 10.1093/hmg/9.6.879
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Review
Neural cell recognition molecule L1: relating biological complexity to human disease mutations
Hum Mol Genet.
.
Abstract
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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