- Intestinal Failure and Aberrant Lipid Metabolism in Patients With DGAT1 Deficiency. van Rijn JM, Ardy RC, Kuloğlu Z, Härter B, van Haaften-Visser DY, van der Doef HPJ, van Hoesel M, Kansu A, van Vugt AHM, Thian M, Kokke FTM, Krolo A, Başaran MK, Kaya NG, Aksu AÜ, Dalgıç B, Ozcay F, Baris Z, Kain R, Stigter ECA, Lichtenbelt KD, Massink MPG, Duran KJ, Verheij JBGM, Lugtenberg D, Nikkels PGJ, Brouwer HGF, Verkade HJ, Scheenstra R, Spee B, Nieuwenhuis EES, Coffer PJ, Janecke AR, van Haaften G, Houwen RHJ, Müller T, Middendorp S, Boztug K. Gastroenterology. 2018 Jul;155(1):130-143.e15. doi: 10.1053/j.gastro.2018.03.040. Epub 2018 Mar 29. PMID: 29604290
- Gluchowski NL, Chitraju C, Picoraro JA, Mejhert N, Pinto S, Xin W, Kamin DS, Winter HS, Chung WK, Walther TC, Farese RV. Identification and characterization of a novel DGAT1 missense mutation associated with congenital diarrhea. J. Lipid Res. American Society for Biochemistry and Molecular Biology; 2017 Jun;58(6):1230–7. PMCID: PMC5454518.
- Stephen J, Vilboux T, Haberman Y, Pri-Chen H, Pode-Shakked B, Mazaheri S, Marek-Yagel D, Barel O, Di Segni A, Eyal E, Hout-Siloni G, Lahad A, Shalem T, Rechavi G, Malicdan MCV, Weiss B, Gahl WA, Anikster Y. Congenital protein losing enteropathy: an inborn error of lipid metabolism due to DGAT1 mutations. Eur. J. Hum. Genet. 2016 Feb 17.
- Haas JT, Winter HS, Lim E, Kirby A, Blumenstiel B, DeFelice M, Gabriel S, Jalas C, Branski D, Grueter CA, Toporovski MS, Walther TC, Daly MJ, Farese RV Jr. DGAT1 mutation is linked to a congenital diarrheal disorder. J. Clin. Invest. 2012 Nov 1;122(12):4680–4.
- Herker, E., Harris, C., Hernandez, C., Carpentier, A., Kaehlcke, K., Rosenberg, A. R., Farese, R. V., Jr., Ott, M. Efficient hepatitis C virus particle formation requires diacylglycerol acyltransferase-1. Nature Med. 16: 1295-1298, 2010.
- Yen C-LE, Stone SJ, Koliwad S, Harris C, Farese RV. Thematic review series: glycerolipids. DGAT enzymes and triacylglycerol biosynthesis. J. Lipid Res. 2008 Nov;49(11):2283–301. PMCID: PMC3837458.
- Buhman, K. K., Smith, S. J., Stone, S. J., Repa, J. J., Wong, J. S., Knapp, F. F., Jr., Burri, B. J., Hamilton, R. L., Abumrad, N. A., Farese, R. V., Jr. DGAT1 is not essential for intestinal triacylglycerol absorption or chylomicron synthesis. J. Biol. Chem. 277: 25474-25479, 2002.
- Grisart, B., Coppieters, W., Farnir, F., Karim, L., Ford, C., Berzi, P., Cambisano, N., Mni, M., Reid, S., Simon, P., Spelman, R., Georges, M., Snell, R. Positional candidate cloning of a QTL in dairy cattle: identification of a missense mutation in the bovine DGAT1 gene with major effect on milk yield and composition. Genome Res. 12: 222-231, 2002.
- Cases S, Stone SJ, Zhou P, Yen E, Tow B, Lardizabal K, Voelker T, Farese RV . Cloning of DGAT2, a second mammalian diacylglycerol acyltransferase, and related family members. Journal of Biological Chemistry. 2001;276(42):38870–6.
- Cheng, D., Meegalla, R. L., He, B., Cromley, D. A., Billheimer, J. T., Young, P. R. Human acyl-CoA:diacylglycerol acyltransferase is a tetrameric protein. Biochem. J. 359: 707-714, 2001.
- Smith, S. J., Cases, S., Jensen, D. R., Chen, H. C., Sande, E., Tow, B., Sanan, D. A., Raber, J., Eckel, R. H., Farese, R. V., Jr. Obesity resistance and multiple mechanisms of triglyceride synthesis in mice lacking Dgat. Nature Genet. 25: 87-90, 2000.
- Cases S, Smith SJ, Zheng Y-W, Myers HM, Lear SR, Sande E, Novak S, Collins C, Welch CB, Lusis AJ, Erickson SK, Farese RV. Identification of a gene encoding an acyl CoA:diacylglycerol acyltransferase, a key enzyme in triacylglycerol synthesis. Proceedings of the National Academy of Sciences. National Acad Sciences; 1998 Oct 27;95(22):13018–23. PMCID: PMC23692.
- Oelkers, P., Behari, A., Cromley, D., Billheimer, J. T., Sturley, S. L. Characterization of two human genes encoding acyl coenzyme A: cholesterol acyltransferase-related enzymes. J. Biol. Chem. 273: 26765-26771, 1998.
Go Back to Home