Article
The C264Y missense mutation in the extracellular domain of L1 impairs protein trafficking in vitro and in vivo.
The Journal of neuroscience : the official journal of the Society for Neuroscience - 1 Jan 2003
Rünker Annette E, Bartsch Udo, Nave Klaus-Armin, Schachner Melitta
Abstract excerpt
The neural cell adhesion molecule L1, a member of the immunoglobulin superfamily, performs important functions in the developing and adult nervous system and is implicated in neuronal migration and survival, elongation, fasciculation and pathfinding of axons, and synaptic plasticity. This view is in line with the fact that mutations in the L1 gene result in severe neurological syndromes in humans. Patients with...
Topics
- Animals
- Axons
- CHO Cells
- Cell Membrane
- Cerebellum
- Cricetinae
- Hippocampus
- Mice
- Mice, Transgenic
- Molecular Weight
- Mutation, Missense
- Neural Cell Adhesion Molecule L1
- Neurons
- Phenotype
- Protein Structure, Tertiary
- Protein Transport
- Sciatic Nerve
- Sequence Deletion