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Items: 12


A conserved mammalian mitochondrial isoform of acetyl-CoA carboxylase ACC1 provides the malonyl-CoA essential for mitochondrial biogenesis in tandem with ACSF3.

Monteuuis G, Suomi F, Kerätär JM, Masud AJ, Kastaniotis AJ.

Biochem J. 2017 Nov 6;474(22):3783-3797. doi: 10.1042/BCJ20170416.


ACSF3 and Mal(onate)-Adapted Mitochondria.

Lombard DB, Zhao Y.

Cell Chem Biol. 2017 Jun 22;24(6):649-650. doi: 10.1016/j.chembiol.2017.06.004.


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.

Cell Chem Biol. 2017 Jun 22;24(6):673-684.e4. doi: 10.1016/j.chembiol.2017.04.009. Epub 2017 May 4.


Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.

Reid ES, Papandreou A, Drury S, Boustred C, Yue WW, Wedatilake Y, Beesley C, Jacques TS, Anderson G, Abulhoul L, Broomfield A, Cleary M, Grunewald S, Varadkar SM, Lench N, Rahman S, Gissen P, Clayton PT, Mills PB.

Brain. 2016 Nov 1;139(11):2844-2854. doi: 10.1093/brain/aww221.


Targeted exome sequencing for the identification of complementation groups in methylmalonic aciduria: A south Indian experience.

Devi AR, Naushad SM.

Clin Biochem. 2017 Jan;50(1-2):68-72. doi: 10.1016/j.clinbiochem.2016.08.016. Epub 2016 Aug 31.


A Common Polymorphism in HIBCH Influences Methylmalonic Acid Concentrations in Blood Independently of Cobalamin.

Molloy AM, Pangilinan F, Mills JL, Shane B, O'Neill MB, McGaughey DM, Velkova A, Abaan HO, Ueland PM, McNulty H, Ward M, Strain JJ, Cunningham C, Casey M, Cropp CD, Kim Y, Bailey-Wilson JE, Wilson AF, Brody LC.

Am J Hum Genet. 2016 May 5;98(5):869-882. doi: 10.1016/j.ajhg.2016.03.005. Epub 2016 Apr 28.


Added value of next generation gene panel analysis for patients with elevated methylmalonic acid and no clinical diagnosis following functional studies of vitamin B12 metabolism.

Pupavac M, Tian X, Chu J, Wang G, Feng Y, Chen S, Fenter R, Zhang VW, Wang J, Watkins D, Wong LJ, Rosenblatt DS.

Mol Genet Metab. 2016 Mar;117(3):363-8. doi: 10.1016/j.ymgme.2016.01.008. Epub 2016 Jan 23.


Analysis of differentially expressed genes and microRNAs in alcoholic liver disease.

Liu Y, Chen SH, Jin X, Li YM.

Int J Mol Med. 2013 Mar;31(3):547-54. doi: 10.3892/ijmm.2013.1243. Epub 2013 Jan 15.


The CBFA2T3/ACSF3 locus is recurrently involved in IGH chromosomal translocation t(14;16)(q32;q24) in pediatric B-cell lymphoma with germinal center phenotype.

Salaverria I, Akasaka T, Gesk S, Szczepanowski M, Burkhardt B, Harder L, Damm-Welk C, Oschlies I, Klapper W, Dyer MJ, Siebert R.

Genes Chromosomes Cancer. 2012 Apr;51(4):338-43.


Mammalian ACSF3 protein is a malonyl-CoA synthetase that supplies the chain extender units for mitochondrial fatty acid synthesis.

Witkowski A, Thweatt J, Smith S.

J Biol Chem. 2011 Sep 30;286(39):33729-36. doi: 10.1074/jbc.M111.291591. Epub 2011 Aug 16.


Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria.

Sloan JL, Johnston JJ, Manoli I, Chandler RJ, Krause C, Carrillo-Carrasco N, Chandrasekaran SD, Sysol JR, O'Brien K, Hauser NS, Sapp JC, Dorward HM, Huizing M; NIH Intramural Sequencing Center Group, Barshop BA, Berry SA, James PM, Champaigne NL, de Lonlay P, Valayannopoulos V, Geschwind MD, Gavrilov DK, Nyhan WL, Biesecker LG, Venditti CP.

Nat Genet. 2011 Aug 14;43(9):883-6. doi: 10.1038/ng.908.


Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype.

Alfares A, Nunez LD, Al-Thihli K, Mitchell J, Melançon S, Anastasio N, Ha KC, Majewski J, Rosenblatt DS, Braverman N.

J Med Genet. 2011 Sep;48(9):602-5. doi: 10.1136/jmedgenet-2011-100230. Epub 2011 Jul 23.


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