Article
An adhesion test system based on Schneider cells to determine genotype-phenotype correlations for mutated P0 proteins.
Genetic analysis : biomolecular engineering - 1 Oct 1998
Ekici A B, Fuchs C, Nelis E, Hillenbrand R, Schachner M, Van Broeckhoven C, Rautenstrauss B
Abstract excerpt
Myelin protein zero (MPZ, P0) is well known as the adhesion molecule responsible for the compaction of the myelin sheath of peripheral nerves. Mutations are linked to Charcot-Marie-Tooth syndrome type 1B (CMT1B) and the more severe Dejerine-Sottas syndrome (DSS). Three mutations leading to phenotypes of increasing severity (Ser34del/CMT1B, Ser34Cys/DSS, INS663GC/DSS) were expressed in S2 insect cells and resulted...
Topics
- Animals
- Cell Adhesion
- Cell Line
- Drosophila
- Genotype
- Mutation
- Myelin P0 Protein
- Phenotype
- Rats