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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
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  Data: Succinate supplementation ameliorates musculoskeletal defects caused by PLOD3 mutations in a BCARD syndrome model.
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  Data: <searchLink fieldCode="AU" term="%22Choudhary+D%22">Choudhary D</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Unlu+G%22">Unlu G</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Nagai+TH%22">Nagai TH</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Melville+DB%22">Melville DB</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Scalici+A%22">Scalici A</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Hashem+MO%22">Hashem MO</searchLink>; Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Ritter+DJ%22">Ritter DJ</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Schmidt+G%22">Schmidt G</searchLink>; Developmental Biology, Institute Biology I, University of Freiburg, Hauptstrasse 1, Freiburg, 79104, Germany.<br /><searchLink fieldCode="AU" term="%22Guthrie+CL%22">Guthrie CL</searchLink>; Department of Medicine, Division of Genetic Medicine, Vanderbilt University Medical Center, 1165 Light Hall, 2215 Garland Ave., Nashville, TN, 37232, USA.<br /><searchLink fieldCode="AU" term="%22Gamazon+ER%22">Gamazon ER</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Alkuraya+FS%22">Alkuraya FS</searchLink>; Genomic Medicine Center of Excellence, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.; College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.<br /><searchLink fieldCode="AU" term="%22Cox+NJ%22">Cox NJ</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Knapik+EW%22">Knapik EW</searchLink>; 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.
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  Data: <searchLink fieldCode="JN" term="%22101475844%22">Genome medicine</searchLink> [Genome Med] 2026 Mar 13; Vol. 18 (1). <i>Date of Electronic Publication: </i>2026 Mar 13.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22BioMed+Central%22">BioMed Central </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101475844 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1756-994X (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%221756994X%22">1756994X </searchLink><i>NLM ISO Abbreviation: </i>Genome Med <i>Subsets: </i>MEDLINE
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        Value: 10.1186/s13073-026-01608-y
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        Text: English
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