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A Ribosomopathy Reveals Decoding Defective Ribosomes Driving Human Dysmorphism.
Paolini NA, Attwood M, Sondalle SB, Vieira CMDS, van Adrichem AM, di Summa FM, O'Donohue MF, Gleizes PE, Rachuri S, Briggs JW, Fischer R, Ratcliffe PJ, Wlodarski MW, Houtkooper RH, von Lindern M, Kuijpers TW, Dinman JD, Baserga SJ, Cockman ME, MacInnes AW. Paolini NA, et al. Among authors: houtkooper rh. Am J Hum Genet. 2017 Mar 2;100(3):506-522. doi: 10.1016/j.ajhg.2017.01.034. Am J Hum Genet. 2017. PMID: 28257692 Free PMC article.
Deletion of NLRX1 increases fatty acid metabolism and prevents diet-induced hepatic steatosis and metabolic syndrome.
Kors L, Rampanelli E, Stokman G, Butter LM, Held NM, Claessen N, Larsen PWB, Verheij J, Zuurbier CJ, Liebisch G, Schmitz G, Girardin SE, Florquin S, Houtkooper RH, Leemans JC. Kors L, et al. Among authors: houtkooper rh. Biochim Biophys Acta Mol Basis Dis. 2018 May;1864(5 Pt A):1883-1895. doi: 10.1016/j.bbadis.2018.03.003. Epub 2018 Mar 4. Biochim Biophys Acta Mol Basis Dis. 2018. PMID: 29514047 Free article.
Recurring mutations in RPL15 are linked to hydrops fetalis and treatment independence in Diamond-Blackfan anemia.
Wlodarski MW, Da Costa L, O'Donohue MF, Gastou M, Karboul N, Montel-Lehry N, Hainmann I, Danda D, Szvetnik A, Pastor V, Paolini N, di Summa FM, Tamary H, Quider AA, Aspesi A, Houtkooper RH, Leblanc T, Niemeyer CM, Gleizes PE, MacInnes AW. Wlodarski MW, et al. Among authors: houtkooper rh. Haematologica. 2018 Jun;103(6):949-958. doi: 10.3324/haematol.2017.177980. Epub 2018 Mar 29. Haematologica. 2018. PMID: 29599205 Free PMC article.
Pyruvate dehydrogenase complex plays a central role in brown adipocyte energy expenditure and fuel utilization during short-term beta-adrenergic activation.
Held NM, Kuipers EN, van Weeghel M, van Klinken JB, Denis SW, Lombès M, Wanders RJ, Vaz FM, Rensen PCN, Verhoeven AJ, Boon MR, Houtkooper RH. Held NM, et al. Among authors: houtkooper rh. Sci Rep. 2018 Jun 22;8(1):9562. doi: 10.1038/s41598-018-27875-3. Sci Rep. 2018. PMID: 29934543 Free PMC article.
186 results