PUBLICATION
Succinate supplementation ameliorates musculoskeletal defects caused by PLOD3 mutations in a BCARD syndrome model
- Authors
- Choudhary, D., Unlu, G., Nagai, T.H., Melville, D.B., Scalici, A., Hashem, M.O., Ritter, D.J., Schmidt, G., Guthrie, C.L., Gamazon, E.R., Alkuraya, F.S., Cox, N.J., Knapik, E.W.
- ID
- ZDB-PUB-260316-11
- Date
- 2026
- Source
- Genome Medicine 18: 29 (Journal)
- Registered Authors
- Choudhary, Dharmendra, Guthrie, Cory Lovel, Knapik, Ela W., Melville, David, Nagai, Taylor, Unlu, Gokhan
- Keywords
- BCARD, Collagen, ECM, PLOD3, Succinate, Variant fibroblasts, Zebrafish.
- Datasets
- GEO:GSE318257
- MeSH Terms
- none
- PubMed
- 41827019 Full text @ Genome Med.
Citation
Choudhary, D., Unlu, G., Nagai, T.H., Melville, D.B., Scalici, A., Hashem, M.O., Ritter, D.J., Schmidt, G., Guthrie, C.L., Gamazon, E.R., Alkuraya, F.S., Cox, N.J., Knapik, E.W. (2026) Succinate supplementation ameliorates musculoskeletal defects caused by PLOD3 mutations in a BCARD syndrome model. Genome Medicine. 18:29.
Abstract
Genes / Markers
Expression
Phenotype
Mutations / Transgenics
Human Disease / Model
Sequence Targeting Reagents
Fish
Orthology
Engineered Foreign Genes
Mapping