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无脑回畸形1与多种疾病相关:智力迟钝、神经退行性变、精神分裂症、男性不育等等。

Lissencephaly 1 linking to multiple diseases: mental retardation, neurodegeneration, schizophrenia, male sterility, and more.

作者信息

Reiner Orly, Sapoznik Sivan, Sapir Tamar

机构信息

Department of Molecular Genetics, The Weizmann Institute of Science, 76100 Rehovot, Israel.

出版信息

Neuromolecular Med. 2006;8(4):547-65. doi: 10.1385/NMM:8:4:547.

Abstract

Lissencephaly 1 (LIS1) was the first gene implicated in the pathogenesis of type-1 lissencephaly. More than a decade of research by multiple laboratories has revealed that LIS1 is a key node protein, which participates in several pathways, including association with the molecular motor cytoplasmic dynein, the reelin signaling pathway, and the platelet-activating factor pathway. Mutations in LIS1-interacting proteins, either in human, or in mouse models has suggested that LIS1 might play a role in the pathogenesis of numerous diseases such as male sterility, schizophrenia, neuronal degeneration, and viral infections.

摘要

无脑回畸形 1(LIS1)是首个被认为与 1 型无脑回畸形发病机制相关的基因。多个实验室历经十多年的研究表明,LIS1 是一种关键节点蛋白,它参与了多条信号通路,包括与分子马达胞质动力蛋白的结合、Reelin 信号通路以及血小板活化因子信号通路。在人类或小鼠模型中,与 LIS1 相互作用蛋白的突变表明,LIS1 可能在众多疾病的发病机制中发挥作用,如男性不育、精神分裂症、神经元变性和病毒感染。

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