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.
Keyphrases
- induced apoptosis
- signaling pathway
- skeletal muscle
- cell cycle arrest
- pi k akt
- endoplasmic reticulum stress
- genome wide
- healthcare
- epithelial mesenchymal transition
- oxidative stress
- systemic lupus erythematosus
- insulin resistance
- spinal cord
- type diabetes
- dna methylation
- metabolic syndrome
- physical activity
- cell proliferation
- depressive symptoms
- transcription factor