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Hum Mol Genet. 2000 Apr 12;9(6):879-86.

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

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  • 1Wellcome Trust Centre for the Study of Molecular Mechanisms of Disease and Department of Medicine, University of Cambridge, Addenbrooke's Hospital, UK. sjk12@mole.bio.cam.ac.uk


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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