ArticleJournal of inherited metabolic disease2018
An overview of combined D-2- and L-2-hydroxyglutaric aciduria: functional analysis of CIC variants.
Article in Journal of inherited metabolic disease, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 35 citations in OpenAlex.
- Review
- Intracellular Salmonella hijacks the mitochondrial citrate carrier to evade host oxidative defenses.Nature communications · 2025Article
- Inactivation of the SLC25A1 gene during embryogenesis induces a unique senescence program controlled by p53.Cell death and differentiation · 2025Article
- Combined in silico/in vitro approaches for identifying modulators of the activity of the p.Tyr110Cys Carnitine O-Acetyltransferase (CRAT) variant associated to an early onset case of Leigh syndrome.Acta pharmacologica Sinica · 2025Article
- Carnitine O-Acetyltransferase as a Central Player in Lipid and Branched-Chain Amino Acid Metabolism, Epigenetics, Cell Plasticity, and Organelle Function.Biomolecules · 2025Review
- The oxygen level in air directs airway epithelial cell differentiation by controlling mitochondrial citrate export.Science advances · 2025Article
- Mitochondrial Mutations Can Alter Neuromuscular Transmission in Congenital Myasthenic Syndrome and Mitochondrial Disease.International journal of molecular sciences · 2023Review
- A D-2-hydroxyglutarate dehydrogenase mutant reveals a critical role for ketone body metabolism in Caenorhabditis elegans development.PLoS biology · 2023Article
- Understanding Inborn Errors of Metabolism through Metabolomics.Metabolites · 2022Review
- An Overview of Mitochondrial Protein Defects in Neuromuscular Diseases.Biomolecules · 2021Review
- Learning from Yeast about Mitochondrial Carriers.Microorganisms · 2021Review
- The Mitochondrial Citrate Carrier SLC25A1/CIC and the Fundamental Role of Citrate in Cancer, Inflammation and Beyond.Biomolecules · 2021Review
- Article
- The SLC25 Carrier Family: Important Transport Proteins in Mitochondrial Physiology and Pathology.Physiology (Bethesda, Md.) · 2020Review
- A case report of an intermediate phenotype between congenital myasthenic syndrome and D-2- and L-2-hydroxyglutaric aciduria due to novel SLC25A1 variants.BMC neurology · 2020Article
- Inhibition of the mitochondrial citrate carrier, Slc25a1, reverts steatosis, glucose intolerance, and inflammation in preclinical models of NAFLD/NASH.Cell death and differentiation · 2020Article
- Diseases Caused by Mutations in Mitochondrial Carrier GenesBiomolecules · 2020Review
- Cardiac Complications of Propionic and Other Inherited Organic Acidemias.Frontiers in cardiovascular medicine · 2020Review
- D-2-hydroxyglutaric aciduria Type I: Functional analysis of D2HGDH missense variants.Human mutation · 2019Article
- The Mitochondrial Citrate Carrier (SLC25A1) Sustains Redox Homeostasis and Mitochondrial Metabolism Supporting Radioresistance of Cancer Cells With Tolerance to Cycling Severe Hypoxia.Frontiers in oncology · 2018Article
Corrections and comments
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Authors and funding
25 authors at 13 institutions in 7 countries.
Funding
Abstract
Combined D-2- and L-2-hydroxyglutaric aciduria (D/L-2-HGA) is a devastating neurometabolic disorder, usually lethal in the first years of life. Autosomal recessive mutations in the SLC25A1 gene, which encodes the mitochondrial citrate carrier (CIC), were previously detected in patients affected with combined D/L-2-HGA. We showed that transfection of deficient fibroblasts with wild-type SLC25A1 restored citrate efflux and decreased intracellular 2-hydroxyglutarate levels, confirming that deficient CIC is the cause of D/L-2-HGA. We developed and implemented a functional assay and applied it to all 17 missense variants detected in a total of 26 CIC-deficient patients, including eight novel cases, showing reduced activities of varying degrees. In addition, we analyzed the importance of residues affected by these missense variants using our existing scoring system. This allowed not only a clinical and biochemical overview of the D/L-2-HGA patients but also phenotype-genotype correlation studies.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.