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

S Kenwrick; A Watkins; E De Angelis

doi:10.1093/hmg/9.6.879

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

S Kenwrick·A Watkins·E De Angelis

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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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Animals Humans Leukocyte L1 Antigen Complex Membrane Glycoproteins Mice Mutation Nervous System Nervous System Diseases Neural Cell Adhesion Molecules Journal Article Research Support, Non-U.S. Gov't Review

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S Kenwrick, A Watkins, E De Angelis. 2000-04-12. Neural cell recognition molecule L1: relating biological complexity to human disease mutations.. https://doi.org/10.1093/hmg%2F9.6.879

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