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Neural cell recognition molecule L1: relating biological complexity to human disease mutations Kenwrick S; Watkins A; De Angelis EHum Mol Genet 2000[Apr]; 9 (6): 879-86Human 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.|*Mutation[MESH]|Animals[MESH]|Humans[MESH]|Leukocyte L1 Antigen Complex[MESH]|Membrane Glycoproteins/*genetics/physiology[MESH]|Mice[MESH]|Nervous System Diseases/*genetics[MESH]|Nervous System/*embryology[MESH]|Neural Cell Adhesion Molecules/*genetics/physiology[MESH] |
