title: An adhesion test system based on Schneider cells to determine genotype-phenotype correlations for mutated P0 proteins.
abstract: 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 in a decreased adhesion capability in correlation with their respective phenotypes.
authors.affiliation: Institute of Human Genetics, University of Erlangen-Neurnberg, Germany.
authors.forename: A B
authors.initials: AB
authors.lastname: Ekici
authors.forename: C
authors.initials: C
authors.lastname: Fuchs
authors.forename: E
authors.initials: E
authors.lastname: Nelis
authors.forename: R
authors.initials: R
authors.lastname: Hillenbrand
authors.forename: M
authors.initials: M
authors.lastname: Schachner
authors.forename: C
authors.initials: C
authors.lastname: Van Broeckhoven
authors.forename: B
authors.initials: B
authors.lastname: Rautenstrauss
mesh_terms: D000818:Animals; D002448:Cell Adhesion; D002460:Cell Line; D004330:Drosophila; D005838:Genotype; D009154:Mutation; D018993:Myelin P0 Protein / Q000235:genetics* / Q000502:physiology; D010641:Phenotype; D051381:Rats
chemical_list: D018993:Myelin P0 Protein