Gene Symbol: ACSF3
Description: acyl-CoA synthetase family member 3
Alias: acyl-CoA synthetase family member 3, mitochondrial, malonyl-CoA synthetase
- Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotypeAhmed Alfares
Department of Medical Genetics, Montreal Children s Hospital, McGill University, Montreal, Quebec, Canada
J Med Genet 48:602-5. 2011..Most patients have metabolic acidosis, developmental delay, seizures and cardiomyopathy. CMAMMA was also described in symptomatic patients with normal MCD activity, suggesting heterogeneity in this disorder...
- Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduriaJennifer L Sloan
Genetics and Molecular Biology Branch, National Human Genome Research Institute, US National Institutes of Health, Bethesda, Maryland, USA
Nat Genet 43:883-6. 2011..We identify mutations in ACSF3, encoding a putative methylmalonyl-CoA and malonyl-CoA synthetase as a cause of CMAMMA...
- Mammalian ACSF3 protein is a malonyl-CoA synthetase that supplies the chain extender units for mitochondrial fatty acid synthesisAndrzej Witkowski
Children s Hospital Oakland Research Institute, Oakland, California 94609, USA
J Biol Chem 286:33729-36. 2011..The human candidate protein ACSF3, which has a predicted N-terminal mitochondrial targeting sequence, was cloned, expressed, and characterized as a ..
- Evidence for 26 distinct acyl-coenzyme A synthetase genes in the human genomePaul A Watkins
Kennedy Krieger Institute, Johns Hopkins University School of Medicine, Baltimore, MD 21205, USA
J Lipid Res 48:2736-50. 2007..Knowing the full complement of ACS genes in the human genome will facilitate future studies to characterize their specific biological functions...
- Acyl-CoA synthetase ACSVL3 in Malignant Glioma: Metabolism and Oncogenic CellularPaul Watkins; Fiscal Year: 2009..Results of these studies will provide a critical assessment of the mechanism by which this enzyme contributes to the malignant phenotype, and the potential therapeutic benefit of targeting this enzyme in glioma. ..
- XALD: Role of Very Long Chain Fatty Acyl-CoA SynthetasesPaul Watkins; Fiscal Year: 2006..Furthermore, they will facilitate elucidation of the role of enzymes belonging to the VLACS or BG families in XALD. ..
- Brain Uptake and Utilization of Fatty Acids and LipidsPaul Watkins; Fiscal Year: 2004..Mol. Neurosci., which has committed to publish the proceedings of the proposed meeting. ..
- XALD--ROLE OF VERY LONG CHAIN FATTY ACYL COA SYNTHETASESPaul Watkins; Fiscal Year: 2002..abstract_text> ..
- Acyl-CoA synthetase ACSVL3 in Malignant Glioma: Metabolism and Oncogenic CellularPaul A Watkins; Fiscal Year: 2010..Results of these studies will provide a critical assessment of the mechanism by which this enzyme contributes to the malignant phenotype, and the potential therapeutic benefit of targeting this enzyme in glioma. ..