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.
Authors
- Angela Kokkinis (ORCID: https://orcid.org/0009-0001-5683-1415)
- Jana Buzková
- Linda Groom (ORCID: https://orcid.org/0000-0003-4856-7295)
- Irene C. Chrismer (ORCID: https://orcid.org/0000-0002-4240-8165)
- Ninet Sinaii (ORCID: https://orcid.org/0000-0003-4045-1386)
- Liliya Euro (ORCID: https://orcid.org/0000-0001-9705-3886)
- Christopher Grunseich (ORCID: https://orcid.org/0000-0003-4994-2472)
- Willa Riekhof
- Payam Mohassel (ORCID: https://orcid.org/0000-0001-5313-9514)
- Katherine G. Meilleur (ORCID: https://orcid.org/0000-0001-5686-5423)
- Joshua J. Todd (ORCID: https://orcid.org/0000-0001-7608-5184)
- Robert T. Dirksen (ORCID: https://orcid.org/0000-0002-3182-1755)
- Muslima S. Razaqyar (ORCID: https://orcid.org/0000-0002-8168-0321)
- Jessica W. Witherspoon (ORCID: https://orcid.org/0000-0003-2645-9998)
- Tokunbor A. Lawal (ORCID: https://orcid.org/0000-0002-3007-820X)
- Pooja Varma
- Xiang Liu (ORCID: https://orcid.org/0000-0002-8165-3294)
Institutions
- 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)
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
Funders
- U.S. Department of Health and Human Services
- National Institutes of Health
- National Institute of Nursing Research
- NIH Clinical Center