TY - JOUR
T1 - An adhesion test system based on Schneider cells to determine genotype- phenotype correlations for mutated P0 proteins
AU - Ekici, Arif Bülent
AU - Fuchs, Christina
AU - Nelis, Eva
AU - Hillenbrand, Rainer
AU - Schachner, Melitta
AU - Van Broeckhoven, Christine
AU - Rautenstrauss, Bernd
N1 - Funding Information:
This work was funded by grants from the Deutsche Forschungsgemeinschaft, Deutsche Gesellschaft Muskelkranke (DGM), Association Française contre les myopathies (AFM), the Fund for Scientific Research—Flanders (Belgium) (FWO) and a special project of the University of Antwerp, Belgium. BR, CVB and EN are members of the European CMT consortium funded by the EU (CT961614 and CT960055). EN is a research assistant of the Belgian FWO and a Humboldt fellow. Part of this work was performed by BR as FWO postdoctoral research fellow.
PY - 1998/10
Y1 - 1998/10
N2 - Myelin protein zero (MPZ, P0) is well known as the adhesion molecule responsible for the comparison 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 of (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.
AB - Myelin protein zero (MPZ, P0) is well known as the adhesion molecule responsible for the comparison 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 of (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.
KW - Adhesion
KW - Heterologous expression
KW - Homophilic binding
KW - Immunoglobulin superfamily
KW - P0
KW - Schneider cells
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U2 - 10.1016/S1050-3862(98)00004-7
DO - 10.1016/S1050-3862(98)00004-7
M3 - Article
C2 - 9834852
AN - SCOPUS:0031775068
SN - 1871-6784
VL - 14
SP - 117
EP - 119
JO - Gene Analysis Techniques
JF - Gene Analysis Techniques
IS - 4
ER -