Adhesion molecules and inherited diseases of the human nervous system

H. Kamiguchi, M. L. Hlavin, M. Yamasaki, Vance Lemmon

Research output: Contribution to journalArticle

102 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)97-125
Number of pages29
JournalAnnual Review of Neuroscience
Volume21
DOIs
StatePublished - Apr 15 1998
Externally publishedYes

Fingerprint

Nervous System Diseases
Mutation
Laminin
Nervous System Malformations
Pyramidal Tracts
Corpus Callosum
Adhesives
Nervous System
Axons
Phenotype
Genes
Proteins

Keywords

  • Charcot-Marie-Tooth disease
  • Muscular dystrophy
  • X-linked hydrocephalus

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

Adhesion molecules and inherited diseases of the human nervous system. / Kamiguchi, H.; Hlavin, M. L.; Yamasaki, M.; Lemmon, Vance.

In: Annual Review of Neuroscience, Vol. 21, 15.04.1998, p. 97-125.

Research output: Contribution to journalArticle

Kamiguchi, H. ; Hlavin, M. L. ; Yamasaki, M. ; Lemmon, Vance. / Adhesion molecules and inherited diseases of the human nervous system. In: Annual Review of Neuroscience. 1998 ; Vol. 21. pp. 97-125.
@article{a0245da6cd3a4c0f8410f6b2a6b464a4,
title = "Adhesion molecules and inherited diseases of the human nervous system",
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.",
keywords = "Charcot-Marie-Tooth disease, Muscular dystrophy, X-linked hydrocephalus",
author = "H. Kamiguchi and Hlavin, {M. L.} and M. Yamasaki and Vance Lemmon",
year = "1998",
month = "4",
day = "15",
doi = "10.1146/annurev.neuro.21.1.97",
language = "English",
volume = "21",
pages = "97--125",
journal = "Annual Review of Neuroscience",
issn = "0147-006X",
publisher = "Annual Reviews Inc.",

}

TY - JOUR

T1 - Adhesion molecules and inherited diseases of the human nervous system

AU - Kamiguchi, H.

AU - Hlavin, M. L.

AU - Yamasaki, M.

AU - Lemmon, Vance

PY - 1998/4/15

Y1 - 1998/4/15

N2 - 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.

AB - 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.

KW - Charcot-Marie-Tooth disease

KW - Muscular dystrophy

KW - X-linked hydrocephalus

UR - http://www.scopus.com/inward/record.url?scp=0031948880&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=0031948880&partnerID=8YFLogxK

U2 - 10.1146/annurev.neuro.21.1.97

DO - 10.1146/annurev.neuro.21.1.97

M3 - Article

VL - 21

SP - 97

EP - 125

JO - Annual Review of Neuroscience

JF - Annual Review of Neuroscience

SN - 0147-006X

ER -