从实验室到临床的瑞特综合征：最新进展
Rett syndrome from bench to bedside: recent advances.
作者信息
Ehinger Yann, Matagne Valerie, Villard Laurent, Roux Jean-Christophe
机构信息
Aix Marseille Univ, INSERM, MMG, 13385 Marseille, France.
出版信息
F1000Res. 2018 Mar 26;7:398. doi: 10.12688/f1000research.14056.1. eCollection 2018.
Abstract
Rett Syndrome is a severe neurological disorder mainly due to mutations in the methyl-CpG-binding protein 2 gene ( ). Mecp2 is known to play a role in chromatin organization and transcriptional regulation. In this review, we report the latest advances on the molecular function of Mecp2 and the new animal and cellular models developed to better study Rett syndrome. Finally, we present the latest innovative therapeutic approaches, ranging from classical pharmacology to correct symptoms to more innovative approaches intended to cure the pathology.
摘要
雷特综合征是一种严重的神经障碍疾病，主要由甲基CpG结合蛋白2基因（ ）的突变引起。已知Mecp2在染色质组织和转录调控中发挥作用。在本综述中，我们报告了Mecp2分子功能的最新进展以及为更好地研究雷特综合征而开发的新动物和细胞模型。最后，我们介绍了最新的创新治疗方法，从经典药理学纠正症状到旨在治愈该疾病的更创新方法。
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