Role of Nuclear Envelope Proteins in the Structure and Function of the Neuromuscular Junction: Focus on Subsynaptic Nuclei.

Céline Douarre, Bruno Cadot, Antoine Muchir, Stéphanie Bauché

Abstract readReview

In one paragraph

Review in Sub-cellular biochemistry, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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5 · Who and what money

Authors and funding

4 authors.

Céline DouarreSorbonne Université, INSERM U974, Institute of Myology, Center of Research in Myology, Paris, France.

Bruno CadotSorbonne Université, INSERM U974, Institute of Myology, Center of Research in Myology, Paris, France.

Antoine MuchirSorbonne Université, INSERM U974, Institute of Myology, Center of Research in Myology, Paris, France.

Stéphanie BauchéSorbonne Université, INSERM U974, Institute of Myology, Center of Research in Myology, Paris, France. stephanie.godard-bauche@sorbonne-universite.fr.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

The role of the nuclear envelope (NE) in skeletal muscle function was first recognized 30 years ago when mutations in NE-associated genes, such as SUN-1, Syne1, Syne2, and LMNA, were linked to muscular dystrophies, also known as nuclear envelopathies. These findings underscored the critical role of NE components in maintaining muscle fiber integrity and function. NE proteins, including lamin A/C, SUN-1/2, nesprins, and LAP1, play a key role in anchoring and positioning nuclei within muscle fibers. In particular, the correct positioning of subsynaptic nuclei (SSNs) beneath the neuromuscular junction (NMJ) is essential for their differentiation and functional specialization, ensuring efficient neuromuscular transmission. The crucial role of the NE in SSNs and NMJ function has been further emphasized by its association with an atypical form of congenital myasthenic syndrome (CMS). Despite significant advances in understanding NMJ formation and motor neuron-myofiber communication, the mechanisms governing gene regulation in SSNs remain largely unexplored.

Indexed as

Cell NucleusNeuromuscular JunctionNuclear EnvelopeNuclear ProteinsSynapsesAnimalsHumansNuclear ProteinsCongenital myasthenic syndromeEmery-dreifuss muscular dystrophyNeuromuscular junctionNuclear envelopeSubsynaptic nuclei

Identifiers

PMID41004038

DOI10.1007/978-3-032-00537-3_2

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