Journal Article

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

Sue Kenwrick, Alex Watkins and Elena De Angelis

in Human Molecular Genetics

Volume 9, issue 6, pages 879-886
Published in print April 2000 | ISSN: 0964-6906
Published online April 2000 | e-ISSN: 1460-2083 | DOI: http://dx.doi.org/10.1093/hmg/9.6.879
Neural cell recognition molecule L1: relating biological complexity to human disease mutations

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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.

Journal Article.  6649 words.  Illustrated.

Subjects: Genetics and Genomics

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