Arif Bülent Ekici , Christina Fuchs , Eva Nelis , Rainer Hillenbrand , Melitta Schachner , Christine Van Broeckhoven , Bernd Rautenstrauss
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引用次数: 15
摘要
髓鞘蛋白零(Myelin protein zero, MPZ, P0)是众所周知的粘附分子，负责周围神经髓鞘的压实。突变与Charcot-Marie-Tooth综合征1B型(CMT1B)和更严重的Dejerine-Sottas综合征(DSS)有关。在S2昆虫细胞中表达了三种导致严重表型增加的突变(Ser34del/CMT1B, Ser34Cys/DSS, INS663GC/DSS)，导致其粘附能力下降，与各自的表型相关。
An adhesion test system based on Schneider cells to determine genotype–phenotype correlations for mutated P0 proteins
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.
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