Building, Breaking, and Repairing Neuromuscular Synapses

被引：3

作者：

Herbst, Ruth ^{[1
]}

Huijbers, Maartje G. ^{[2
,3
]}

Oury, Julien ^{[4
]}

Burden, Steven J. ^{[5
]}

机构：

[1] Med Univ Vienna, Ctr Pathophysiol Infectiol & Immunol, A-1090 Vienna, Austria

[2] Leiden Univ, Dept Human Genet, Med Ctr LUMC, NL-2300 RC Leiden, Netherlands

[3] Leiden Univ, Dept Neurol, Med Ctr LUMC, NL-2333 ZA Leiden, Netherlands

[4] NYU, Sch Med, Helen L & Martin S Kimmel Ctr Biol & Med, Skirball Inst Biomol Med, New York, NY 10016 USA

[5] Massachusetts Gen Hosp, Neurol Dept, Charlestown, MA 02129 USA

来源：

COLD SPRING HARBOR PERSPECTIVES IN BIOLOGY | 2024年 / 16卷 / 05期

基金：

奥地利科学基金会;

关键词：

TYROSINE KINASE MUSK; NICOTINIC ACETYLCHOLINE-RECEPTOR; MYASTHENIA-GRAVIS; JUNCTION FORMATION; MOUSE MODEL; TRANSCRIPTION FACTOR; GENE-EXPRESSION; AXON GUIDANCE; MUSCLE; AGRIN;

D O I：

10.1101/cshperspect.a041490

中图分类号：

Q2 [细胞生物学];

学科分类号：

071009 ; 090102 ;

摘要：

A coordinated and complex interplay of signals between motor neurons, skeletal muscle cells, and Schwann cells controls the formation and maintenance of neuromuscular synapses. Deficits in the signaling pathway for building synapses, caused by mutations in critical genes or autoantibodies against key proteins, are responsible for several neuromuscular diseases, which cause muscle weakness and fatigue. Here, we describe the role that four key genes, Agrin, Lrp4, MuSK, and Dok7, play in this signaling pathway, how an understanding of their mechanisms of action has led to an understanding of several neuromuscular diseases, and how this knowledge has contributed to emerging therapies for treating neuromuscular diseases.

引用

页数：16

共 135 条

[11] SYNAPSE-SPECIFIC GENE-EXPRESSION [J].