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CaMKIIβ deregulation contributes to neuromuscular junction destabilization in Myotonic Dystrophy type I

Abstract Background Myotonic Dystrophy type I (DM1) is the most common muscular dystrophy in adults. Previous reports have highlighted that neuromuscular junctions (NMJs) deteriorate in skeletal muscle from DM1 patients and mouse models thereof. However, the underlying pathomechanisms and their cont...

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Principais autores: Denis Falcetta, Sandrine Quirim, Ilaria Cocchiararo, Florent Chabry, Marine Théodore, Adeline Stiefvater, Shuo Lin, Lionel Tintignac, Robert Ivanek, Jochen Kinter, Markus A. Rüegg, Michael Sinnreich, Perrine Castets
Format: Artigo
Sprog:Inglês
Udgivet: BMC 2024-05-01
Serier:Skeletal Muscle
Fag:
Myotonic dystrophy
Neuromuscular junctions
CaMKII
Synaptic genes
Fibre type
Online adgang:https://doi.org/10.1186/s13395-024-00345-3
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