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L1CAM malfunction in the nervous system and human carcinomas
- Source :
- Cellular and molecular life sciences : CMLS. 67(14)
- Publication Year :
- 2009
-
Abstract
- 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 system development and malformations of the renal system. Importantly, aberrant expression of L1 has emerged as a critical factor in the development of human carcinomas, where it enhances cell proliferation, motility and chemoresistance. This discovery promoted collaborative work between tumour biologists and neurobiologists, which has led to a substantial expansion of the basic knowledge about L1 function and regulation. Here we provide an overview of the pathological conditions caused by L1 malfunction. We further discuss how the available data on gene regulation, molecular interactions and posttranslational processing of L1 may contribute to a better understanding of associated neurological and cancerous diseases.
- Subjects :
- Nervous system
L1
Transcription, Genetic
Neural Cell Adhesion Molecule L1
Biology
Bioinformatics
Kidney
Nervous System
Cellular and Molecular Neuroscience
Pregnancy
Neoplasms
medicine
Humans
Hirschsprung Disease
L1 syndrome
Molecular Biology
Pharmacology
Regulation of gene expression
Neurons
Paraplegia
Cell adhesion molecule
Cell growth
Cell migration
Genetic Diseases, X-Linked
Cell Biology
Syndrome
medicine.anatomical_structure
Phenotype
Gene Expression Regulation
Fetal Alcohol Spectrum Disorders
Immunology
Molecular Medicine
Enteric nervous system
Female
Nervous System Diseases
Protein Processing, Post-Translational
Subjects
Details
- ISSN :
- 14209071
- Volume :
- 67
- Issue :
- 14
- Database :
- OpenAIRE
- Journal :
- Cellular and molecular life sciences : CMLS
- Accession number :
- edsair.doi.dedup.....061bcb41a36f69fb326739806f22666e