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ADHESION MOLECULES AND INHERITED DISEASES OF THE HUMAN NERVOUS SYSTEM

Kamiguchi, H., Hlavin, M. L., Yamasaki, M., Lemmon, V.·1998·Annual Review of Neuroscience
DOI 10.1146/annurev.neuro.21.1.97
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Abstract

▪ Abstract Mutations in the human genes for the adhesion molecules Po, L1, and merosin cause severe abnormalities in nervous system development. Po and merosin are required for normal myelination in the nervous system, and L1 is essential for development of major axon pathways such as the corticospinal tract and corpus callosum. While mutations that lead to a loss of the adhesive function of these molecules produce severe phenotypes, mutations that disrupt intracellular signals or intracellular interactions are also deleterious. Geneticists have found that more than one clinical syndrome can be caused by mutations in each of these adhesion molecules, confirming that these proteins are multifunctional. This review focuses on identifying common mechanisms by which mutations in adhesion molecules alter neural development.

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Metadata

Authors
Kamiguchi, H., Hlavin, M. L., Yamasaki, M., & Lemmon, V.
Affiliations
Department of Neurosciences, 2Department of Neurological Surgery, Case Western Reserve Univers ity, Cleveland, Ohio 44106;
Venue
Annual Review of Neuroscience
Publisher
Annual Reviews
Published
1998-03
Volume
21
Issue
1
Pages
97-125
ISSN
  • 0147-006X
  • 1545-4126
DOI
10.1146/annurev.neuro.21.1.97
Cited by
104
References
0
Language
en

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