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

Denis FalcettaSandrine QuirimIlaria CocchiararoFlorent ChabryMarine ThéodoreAdeline StiefvaterShuo LinLionel TintignacRobert IvanekJochen KinterMarkus A RüeggMichael SinnreichPerrine Castets

Published in: Skeletal muscle (2024)

Our results indicate that CaMKIIβ-dependent and -independent mechanisms perturb synaptic gene regulation and muscle response to denervation in DM1 mouse models. Changes in these signalling pathways may contribute to NMJ destabilization and muscle dysfunction in DM1 patients.

Keyphrases

end stage renal disease
skeletal muscle
ejection fraction
mouse model
newly diagnosed
chronic kidney disease
peritoneal dialysis
prognostic factors
early onset
adipose tissue
patient reported
weight loss