L1CAM malfunction in the nervous system and human carcinomas.

doi:10.1007/s00018-010-0339-1

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Article

L1CAM malfunction in the nervous system and human carcinomas.

Cellular and molecular life sciences : CMLS - 1 Jul 2010

Schäfer Michael K E, Altevogt Peter

Abstract excerpt

Research over the last 25 years on the cell adhesion molecule L1 has revealed its pivotal role in nervous system function. Mutations of the human L1CAM gene have been shown to cause neurodevelopmental disorders such as X-linked hydrocephalus, spastic paraplegia and mental retardation. Impaired L1 function has been also implicated in the aetiology of fetal alcohol spectrum disorders, defective enteric nervous...

Topics

Female
Fetal Alcohol Spectrum Disorders
Gene Expression Regulation
Genetic Diseases, X-Linked
Hirschsprung Disease
Humans
Kidney
Neoplasms
Nervous System
Nervous System Diseases
Neural Cell Adhesion Molecule L1
Neurons
Paraplegia
Phenotype
Pregnancy
Protein Processing, Post-Translational
Syndrome
Transcription, Genetic

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Identifiers

PMID: 20237819
DOI: 10.1007/s00018-010-0339-1
PMCID: PMC11115577

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