title: Neural cell recognition molecule L1: relating biological complexity to human disease mutations.
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.
authors.affiliation: Wellcome 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
authors.forename: S
authors.initials: S
authors.lastname: Kenwrick
authors.forename: A
authors.initials: A
authors.lastname: Watkins
authors.forename: E
authors.initials: E
authors.lastname: De Angelis
mesh_terms: D000818:Animals; D006801:Humans; D039841:Leukocyte L1 Antigen Complex; D008562:Membrane Glycoproteins / Q000235:genetics* / Q000502:physiology; D051379:Mice; D009154:Mutation; D009420:Nervous System / Q000196:embryology*; D009422:Nervous System Diseases / Q000235:genetics*; D019006:Neural Cell Adhesion Molecules / Q000235:genetics* / Q000502:physiology
chemical_list: D039841:Leukocyte L1 Antigen Complex; D008562:Membrane Glycoproteins; D019006:Neural Cell Adhesion Molecules