NAD+ dyshomeostasis in RYR1-related myopathies

NAD<sup>+</sup> and NADP dyshomeostasis was identified in a subset of RYR1-RM affected individuals. Further experiments are warranted to confirm if NAD<sup>+</sup> repletion could be an attractive therapeutic approach given the favorable outcomes reported in other neuromuscular disorders.

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Publication Details

Journal
Skeletal Muscle
Published
2025-08-22
DOI
https://doi.org/10.1186/s13395-025-00390-6
Primary Topic
Sirtuins and Resveratrol in Medicine
Type
article
Field-Weighted Citation Impact
0.00

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article

NAD+ dyshomeostasis in RYR1-related myopathies

Angela Kokkinis, Jana Buzková, Linda Groom, Irene C. Chrismer et al.
Skeletal Muscle
Sirtuins and Resveratrol in Medicine
article

NAD+ dyshomeostasis in RYR1-related myopathies

Angela Kokkinis, Jana Buzková, Linda Groom, Irene C. Chrismer, Ninet Sinaii, Liliya Euro, Christopher Grunseich, Willa Riekhof, Payam Mohassel, Katherine G. Meilleur, Joshua J. Todd, Robert T. Dirksen, Muslima S. Razaqyar, Jessica W. Witherspoon, Tokunbor A. Lawal, Pooja Varma, Xiang Liu
article en

Abstract

NAD<sup>+</sup> and NADP dyshomeostasis was identified in a subset of RYR1-RM affected individuals. Further experiments are warranted to confirm if NAD<sup>+</sup> repletion could be an attractive therapeutic approach given the favorable outcomes reported in other neuromuscular disorders.

Skeletal MuscleVol. 15(1)
National Institutes of Health (US), Johns Hopkins University (US), Johns Hopkins Medicine (US), University of Rochester Medical Center (US), Wihuri Research Institute (FI), National Institute of Nursing Research (US), National Institute of Neurological Disorders and Stroke (US), National Institute on Minority Health and Health Disparities (US), National Institutes of Health Clinical Center (US)
U.S. Department of Health and Human Services, National Institutes of Health, National Institute of Nursing Research, NIH Clinical Center
Openalex Percentile: Top 75%
Sirtuins and Resveratrol in Medicine
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