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Building, Breaking, and Repairing Neuromuscular Synapses.
- Source :
-
Cold Spring Harbor perspectives in biology [Cold Spring Harb Perspect Biol] 2024 May 02; Vol. 16 (5). Date of Electronic Publication: 2024 May 02. - Publication Year :
- 2024
-
Abstract
- 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.<br /> (Copyright © 2024 Cold Spring Harbor Laboratory Press; all rights reserved.)
- Subjects :
- Humans
Animals
Agrin metabolism
LDL-Receptor Related Proteins metabolism
Receptor Protein-Tyrosine Kinases metabolism
Muscle Proteins metabolism
Neuromuscular Diseases
Receptors, Cholinergic metabolism
Synapses physiology
Synapses metabolism
Motor Neurons physiology
Motor Neurons metabolism
Neuromuscular Junction
Signal Transduction
Subjects
Details
- Language :
- English
- ISSN :
- 1943-0264
- Volume :
- 16
- Issue :
- 5
- Database :
- MEDLINE
- Journal :
- Cold Spring Harbor perspectives in biology
- Publication Type :
- Academic Journal
- Accession number :
- 38697654
- Full Text :
- https://doi.org/10.1101/cshperspect.a041490