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ACSF3 and Mal(onate)-Adapted Mitochondria.
Lombard DB, Zhao Y. Lombard DB, et al. Cell Chem Biol. 2017 Jun 22;24(6):649-650. doi: 10.1016/j.chembiol.2017.06.004. Cell Chem Biol. 2017. PMID: 28644952 Free article.
In this issue of Cell Chemical Biology, Bowman and colleagues show that the mitochondrial enzyme ACSF3 generates malonyl-CoA from malonate, in turn regulating metabolic flux and mitochondrial protein malonylation (Bowman et al., 2017). ...
In this issue of Cell Chemical Biology, Bowman and colleagues show that the mitochondrial enzyme ACSF3 generates malonyl-CoA from mal …
Role of the malonyl-CoA synthetase ACSF3 in mitochondrial metabolism.
Bowman CE, Wolfgang MJ. Bowman CE, et al. Adv Biol Regul. 2019 Jan;71:34-40. doi: 10.1016/j.jbior.2018.09.002. Epub 2018 Sep 5. Adv Biol Regul. 2019. PMID: 30201289 Free PMC article. Review.
A major role for ACSF3 is to provide a metabolic pathway for the clearance of malonate by the generation of malonyl-CoA, which can then be decarboxylated to acetyl-CoA by malonyl-CoA decarboxylase. Additionally, ACSF3-derived malonyl-CoA can be used to malonylate ly …
A major role for ACSF3 is to provide a metabolic pathway for the clearance of malonate by the generation of malonyl-CoA, which can th …
Altered Metabolic Flexibility in Inherited Metabolic Diseases of Mitochondrial Fatty Acid Metabolism.
Tucci S, Alatibi KI, Wehbe Z. Tucci S, et al. Int J Mol Sci. 2021 Apr 6;22(7):3799. doi: 10.3390/ijms22073799. Int J Mol Sci. 2021. PMID: 33917608 Free PMC article. Review.
We focus specifically on two diseases: very long-chain acyl-CoA dehydrogenase deficiency (VLCADD) and malonyl-CoA synthetase deficiency (acyl-CoA synthetase family member 3 (ACSF3)) deficiency, which are both characterized by alterations in metabolic flexibility. On the on …
We focus specifically on two diseases: very long-chain acyl-CoA dehydrogenase deficiency (VLCADD) and malonyl-CoA synthetase deficiency (acy …
Knockout mouse models as a resource for the study of rare diseases.
da Silva-Buttkus P, Spielmann N, Klein-Rodewald T, Schütt C, Aguilar-Pimentel A, Amarie OV, Becker L, Calzada-Wack J, Garrett L, Gerlini R, Kraiger M, Leuchtenberger S, Östereicher MA, Rathkolb B, Sanz-Moreno A, Stöger C, Hölter SM, Seisenberger C, Marschall S, Fuchs H, Gailus-Durner V, Hrabě de Angelis M. da Silva-Buttkus P, et al. Mamm Genome. 2023 Jun;34(2):244-261. doi: 10.1007/s00335-023-09986-z. Epub 2023 May 9. Mamm Genome. 2023. PMID: 37160609 Free PMC article.
We focus on recognized RD genes with no pre-existing KO mouse models (Kansl1l, Acsf3, Pcdhgb2, Rabgap1, Cox7a2) which highlight novel phenotypes capable of optimizing clinical diagnosis. ...
We focus on recognized RD genes with no pre-existing KO mouse models (Kansl1l, Acsf3, Pcdhgb2, Rabgap1, Cox7a2) which highlight novel …
The Mammalian Malonyl-CoA Synthetase ACSF3 Is Required for Mitochondrial Protein Malonylation and Metabolic Efficiency.
Bowman CE, Rodriguez S, Selen Alpergin ES, Acoba MG, Zhao L, Hartung T, Claypool SM, Watkins PA, Wolfgang MJ. Bowman CE, et al. Cell Chem Biol. 2017 Jun 22;24(6):673-684.e4. doi: 10.1016/j.chembiol.2017.04.009. Epub 2017 May 4. Cell Chem Biol. 2017. PMID: 28479296 Free PMC article.
To determine the metabolic requirement for mitochondrial malonyl-CoA, ACSF3 knockout (KO) cells were generated by CRISPR/Cas-mediated genome editing. ACSF3 KO cells exhibited elevated malonate and impaired mitochondrial metabolism. ...
To determine the metabolic requirement for mitochondrial malonyl-CoA, ACSF3 knockout (KO) cells were generated by CRISPR/Cas-mediated …
ZBTB11 dysfunction: spectrum of brain abnormalities, biochemical signature and cellular consequences.
Sumathipala D, Strømme P, Fattahi Z, Lüders T, Sheng Y, Kahrizi K, Einarsen IH, Sloan JL, Najmabadi H, van den Heuvel L, Wevers RA, Guerrero-Castillo S, Mørkrid L, Valayannopoulos V, Backe PH, Venditti CP, van Karnebeek CD, Nilsen H, Frengen E, Misceo D. Sumathipala D, et al. Brain. 2022 Jul 29;145(7):2602-2616. doi: 10.1093/brain/awac034. Brain. 2022. PMID: 35104841 Free PMC article.
In addition, we uncovered that reduced binding of the mutated ZBTB11 to ACSF3 leads to decreased ACSF3 transcript level, explaining combined malonic and methylmalonic aciduria. ...
In addition, we uncovered that reduced binding of the mutated ZBTB11 to ACSF3 leads to decreased ACSF3 transcript level, expla …
Combined Malonic and Methylmalonic Aciduria Diagnosed by Recurrent and Severe Infections Mimicking a Primary Immunodeficiency Disease: A Case Report.
Lee JK, Oh A. Lee JK, et al. J Korean Med Sci. 2023 Nov 20;38(45):e387. doi: 10.3346/jkms.2023.38.e387. J Korean Med Sci. 2023. PMID: 37987109 Free PMC article.
Combined malonic and methylmalonic aciduria is a rare genetic disorder caused by ACSF3 biallelic variants that results in impaired protein and fat metabolism and the accumulation of malonic and methylmalonic acids. ...The prognosis suggests a benign disease course. Here, w …
Combined malonic and methylmalonic aciduria is a rare genetic disorder caused by ACSF3 biallelic variants that results in impaired pr …
Epigenome-wide association study of rheumatoid arthritis identifies differentially methylated loci in B cells.
Julià A, Absher D, López-Lasanta M, Palau N, Pluma A, Waite Jones L, Glossop JR, Farrell WE, Myers RM, Marsal S. Julià A, et al. Hum Mol Genet. 2017 Jul 15;26(14):2803-2811. doi: 10.1093/hmg/ddx177. Hum Mol Genet. 2017. PMID: 28475762
Analysis in an independent cohort of patients (N = 15) and controls (N = 15) validated the association of 10 CpG sites located on 8 genes CD1C, TNFSF10, PARVG, NID1, DHRS12, ITPK1, ACSF3 and TNFRSF13C, and 2 intergenic regions. Differential methylation at the CBL signaling …
Analysis in an independent cohort of patients (N = 15) and controls (N = 15) validated the association of 10 CpG sites located on 8 genes CD …
The emerging role of the mitochondrial fatty-acid synthase (mtFASII) in the regulation of energy metabolism.
Wehbe Z, Behringer S, Alatibi K, Watkins D, Rosenblatt D, Spiekerkoetter U, Tucci S. Wehbe Z, et al. Biochim Biophys Acta Mol Cell Biol Lipids. 2019 Nov;1864(11):1629-1643. doi: 10.1016/j.bbalip.2019.07.012. Epub 2019 Jul 31. Biochim Biophys Acta Mol Cell Biol Lipids. 2019. PMID: 31376476
Malonyl-CoA synthetase (ACSF3) catalyzes the first step of the mitochondrial fatty acid biosynthesis (mtFASII). Mutations in ACSF3 cause CMAMMA a rare inborn error of metabolism. The clinical phenotype is very heterogeneous, with some patients presenting with neurol …
Malonyl-CoA synthetase (ACSF3) catalyzes the first step of the mitochondrial fatty acid biosynthesis (mtFASII). Mutations in ACSF3
Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohort.
Levtova A, Waters PJ, Buhas D, Lévesque S, Auray-Blais C, Clarke JTR, Laframboise R, Maranda B, Mitchell GA, Brunel-Guitton C, Braverman NE. Levtova A, et al. J Inherit Metab Dis. 2019 Jan;42(1):107-116. doi: 10.1002/jimd.12032. J Inherit Metab Dis. 2019. PMID: 30740739
BACKGROUND: The clinical significance of combined malonic and methylmalonic aciduria due to ACSF3 deficiency (CMAMMA) is controversial. In most publications, affected patients were identified during the investigation of various complaints. ...These findings are comparable …
BACKGROUND: The clinical significance of combined malonic and methylmalonic aciduria due to ACSF3 deficiency (CMAMMA) is controversia …
23 results