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Updated: Dec 10, 2025

Dissection of Single Skeletal Muscle Fibers for Immunofluorescent and Morphometric Analyses of Whole-Mount Neuromuscular Junctions
Published on: August 14, 2021
Harmony Lost: Cell-Cell Communication at the Neuromuscular Junction in Motor Neuron Disease
Anastasia Gromova1, Albert R La Spada2
1Biomedical Sciences Graduate Program, University of California San Diego, La Jolla, CA 92093, USA; Department of Pathology and Laboratory Medicine and Department of Neurology, University of California Irvine, Irvine, CA 92697, USA.
Abstract:
The neuromuscular junction (NMJ) is a specialized synapse that is the point of connection between motor neurons and skeletal muscle. Although developmental studies have established the importance of cell-cell communication at the NMJ for the integrity and full functionality of this synapse, the contribution of this structure as a primary driver in motor neuron disease pathogenesis remains uncertain. Here, we consider the biology of the NMJ and review emerging lines of investigation that are highlighting the importance of cell-cell interaction at the NMJ in spinal muscular atrophy (SMA), X-linked spinal and bulbar muscular atrophy (SBMA), and amyotrophic lateral sclerosis (ALS). Ongoing research may reveal NMJ targets and pathways whose therapeutic modulation will help slow the progression of motor neuron disease, offering a novel treatment paradigm for ALS, SBMA, SMA, and related disorders.
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