NAD+ dyshomeostasis in RYR1-related myopathies

NAD+ dyshomeostasis in RYR1-related myopathies

Abstract Background Pathogenic variants in RYR1 cause a spectrum of rare congenital myopathies associated with intracellular calcium dysregulation. Glutathione redox imbalance has been reported in several Ryr1 disease model systems and clinical studies. NAD+ and NADP are essential cofactors in cellu...

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Main Authors: Tokunbor A. Lawal, Willa Riekhof, Linda Groom, Pooja Varma, Irene C. Chrismer, Angela Kokkinis, Christopher Grunseich, Jessica W. Witherspoon, Muslima S. Razaqyar, Ninet Sinaii, Katherine G. Meilleur, Lichen Xiang, Jana Buzkova, Liliya Euro, Payam Mohassel, Robert T. Dirksen, Joshua J. Todd
Format: Article
Language:English
Published: BMC 2025-08-01
Series:Skeletal Muscle
Subjects:
Congenital myopathy
Oxidative stress
RYR1
Glutathione
NAD+
NADP
Online Access:https://doi.org/10.1186/s13395-025-00390-6
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https://doi.org/10.1186/s13395-025-00390-6

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