Succinate supplementation ameliorates musculoskeletal defects caused by PLOD3 mutations in a BCARD syndrome model.

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Title: Succinate supplementation ameliorates musculoskeletal defects caused by PLOD3 mutations in a BCARD syndrome model.
Authors: Choudhary D; Department of Medicine, Division of Genetic Medicine, Vanderbilt University Medical Center, 1165 Light Hall, 2215 Garland Ave., Nashville, TN, 37232, USA.; Vanderbilt Genetic Institute, Vanderbilt University Medical Center, Nashville, TN, 37232, USA., Unlu G; Department of Medicine, Division of Genetic Medicine, Vanderbilt University Medical Center, 1165 Light Hall, 2215 Garland Ave., Nashville, TN, 37232, USA.; Vanderbilt Genetic Institute, Vanderbilt University Medical Center, Nashville, TN, 37232, USA.; Department of Cell and Developmental Biology, Vanderbilt University, Nashville, TN, 37232, USA.; Present address: Laboratory of Metabolic Regulation and Genetics, The Rockefeller University, New York, NY, 10065, USA., Nagai TH; Department of Medicine, Division of Genetic Medicine, Vanderbilt University Medical Center, 1165 Light Hall, 2215 Garland Ave., Nashville, TN, 37232, USA.; Vanderbilt Genetic Institute, Vanderbilt University Medical Center, Nashville, TN, 37232, USA., Melville DB; Department of Medicine, Division of Genetic Medicine, Vanderbilt University Medical Center, 1165 Light Hall, 2215 Garland Ave., Nashville, TN, 37232, USA.; Department of Cell and Developmental Biology, Vanderbilt University, Nashville, TN, 37232, USA., Scalici A; Department of Medicine, Division of Genetic Medicine, Vanderbilt University Medical Center, 1165 Light Hall, 2215 Garland Ave., Nashville, TN, 37232, USA.; Vanderbilt Genetic Institute, Vanderbilt University Medical Center, Nashville, TN, 37232, USA.; Present address: Department of Psychiatry, Yale University School of Medicine, New Haven, 06510, CT, USA., Hashem MO; Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia., Ritter DJ; Department of Medicine, Division of Genetic Medicine, Vanderbilt University Medical Center, 1165 Light Hall, 2215 Garland Ave., Nashville, TN, 37232, USA.; Vanderbilt Genetic Institute, Vanderbilt University Medical Center, Nashville, TN, 37232, USA.; Department of Cell and Developmental Biology, Vanderbilt University, Nashville, TN, 37232, USA., Schmidt G; Developmental Biology, Institute Biology I, University of Freiburg, Hauptstrasse 1, Freiburg, 79104, Germany., Guthrie CL; Department of Medicine, Division of Genetic Medicine, Vanderbilt University Medical Center, 1165 Light Hall, 2215 Garland Ave., Nashville, TN, 37232, USA., Gamazon ER; Department of Medicine, Division of Genetic Medicine, Vanderbilt University Medical Center, 1165 Light Hall, 2215 Garland Ave., Nashville, TN, 37232, USA.; Vanderbilt Genetic Institute, Vanderbilt University Medical Center, Nashville, TN, 37232, USA.; Clare Hall, University of Cambridge, Cambridge, CB3 9AL, UK., Alkuraya FS; Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia., Cox NJ; Department of Medicine, Division of Genetic Medicine, Vanderbilt University Medical Center, 1165 Light Hall, 2215 Garland Ave., Nashville, TN, 37232, USA.; Vanderbilt Genetic Institute, Vanderbilt University Medical Center, Nashville, TN, 37232, USA., Knapik EW; Department of Medicine, Division of Genetic Medicine, Vanderbilt University Medical Center, 1165 Light Hall, 2215 Garland Ave., Nashville, TN, 37232, USA. ela.knapik@vumc.org.; Vanderbilt Genetic Institute, Vanderbilt University Medical Center, Nashville, TN, 37232, USA. ela.knapik@vumc.org.; Department of Cell and Developmental Biology, Vanderbilt University, Nashville, TN, 37232, USA. ela.knapik@vumc.org.; Developmental Biology, Institute Biology I, University of Freiburg, Hauptstrasse 1, Freiburg, 79104, Germany. ela.knapik@vumc.org.
Source: Genome medicine [Genome Med] 2026 Mar 13; Vol. 18 (1). Date of Electronic Publication: 2026 Mar 13.
Publication Type: Journal Article
Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101475844 Publication Model: Electronic Cited Medium: Internet ISSN: 1756-994X (Electronic) Linking ISSN: 1756994X NLM ISO Abbreviation: Genome Med Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1756-994X
DOI:10.1186/s13073-026-01608-y