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Page 1
De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus.
Galosi S, Edani BH, Martinelli S, Hansikova H, Eklund EA, Caputi C, Masuelli L, Corsten-Janssen N, Srour M, Oegema R, Bosch DGM, Ellis CA, Amlie-Wolf L, Accogli A, Atallah I, Averdunk L, Barañano KW, Bei R, Bagnasco I, Brusco A, Demarest S, Alaix AS, Di Bonaventura C, Distelmaier F, Elmslie F, Gan-Or Z, Good JM, Gripp K, Kamsteeg EJ, Macnamara E, Marcelis C, Mercier N, Peeden J, Pizzi S, Pannone L, Shinawi M, Toro C, Verbeek NE, Venkateswaran S, Wheeler PG, Zdrazilova L, Zhang R, Zorzi G, Guerrini R, Sessa WC, Lefeber DJ, Tartaglia M, Hamdan FF, Grabińska KA, Leuzzi V. Galosi S, et al. Brain. 2022 Mar 29;145(1):208-223. doi: 10.1093/brain/awab299. Brain. 2022. PMID: 34382076 Free PMC article.
Dynamic metabolism of endothelial triglycerides protects against atherosclerosis in mice.
Boutagy NE, Gamez-Mendez A, Fowler JW, Zhang H, Chaube BK, Esplugues E, Kuo A, Lee S, Horikami D, Zhang J, Citrin KM, Singh AK, Coon BG, Lee MY, Suarez Y, Fernandez-Hernando C, Sessa WC. Boutagy NE, et al. J Clin Invest. 2024 Jan 4;134(4):e170453. doi: 10.1172/JCI170453. J Clin Invest. 2024. PMID: 38175710 Free PMC article.
Targeting the vasculature in cardiometabolic disease.
Boutagy NE, Singh AK, Sessa WC. Boutagy NE, et al. J Clin Invest. 2022 Mar 15;132(6):e148556. doi: 10.1172/JCI148556. J Clin Invest. 2022. PMID: 35289308 Free PMC article. Review.
TNFα increases the degradation of pyruvate dehydrogenase kinase 4 by the Lon protease to support proinflammatory genes.
Boutagy NE, Fowler JW, Grabinska KA, Cardone R, Sun Q, Vazquez KR, Whalen MB, Zhu X, Chakraborty R, Martin KA, Simons M, Romanoski CE, Kibbey RG, Sessa WC. Boutagy NE, et al. Proc Natl Acad Sci U S A. 2023 Sep 19;120(38):e2218150120. doi: 10.1073/pnas.2218150120. Epub 2023 Sep 11. Proc Natl Acad Sci U S A. 2023. PMID: 37695914 Free PMC article.
Loss of cis-PTase function in the liver promotes a highly penetrant form of fatty liver disease that rapidly transitions to hepatocellular carcinoma.
Singh AK, Chaube B, Citrin KM, Fowler JW, Lee S, Catarino J, Knight J, Lowery S, Shree S, Boutagy N, Ruz-Maldonado I, Harry K, Shanabrough M, Ross TT, Malaker S, Suárez Y, Fernández-Hernando C, Grabinska K, Sessa WC. Singh AK, et al. bioRxiv [Preprint]. 2023 Nov 15:2023.11.13.566870. doi: 10.1101/2023.11.13.566870. bioRxiv. 2023. PMID: 38014178 Free PMC article. Preprint.