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ABSTRACT: Background
Sil1 is the causative gene of Marinesco-Sjӧgren Syndrome (MSS). The mutated Sil1 generates shortened SIL1 protein which will form aggregation and be degraded rapidly. Mental retardation is a major symptom of MSS which suggests a role of SIL1 in the development of the central nervous system, but how SIL1 functions remains unclear.Objectives
The aim of this study is to explore the role of SIL1 in regulating cerebral development and its underlying molecular mechanism.Methods
The basic expression pattern of SIL1 in tissues and cultured cortical neurons is measured by immunostaining and Western blot. The expression of SIL1 is reduced in vitro and in vivo through RNA interference delivered by a lentivirus. The expression of NMDA rece
SUBMITTER: Xu S
PROVIDER: S-EPMC6720716 | biostudies-literature | 2019
REPOSITORIES: biostudies-literature