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HEATR3 variants impair nuclear import of uL18 (RPL5) and drive Diamond-Blackfan anemia.
O'Donohue MF, Da Costa L, Lezzerini M, Unal S, Joret C, Bartels M, Brilstra E, Scheijde-Vermeulen M, Wacheul L, De Keersmaecker K, Vereecke S, Labarque V, Saby M, Lefevre SD, Platon J, Montel-Lehry N, Laugero N, Lacazette E, van Gassen K, Houtkooper RH, Simsek-Kiper PO, Leblanc T, Yarali N, Cetinkaya A, Akarsu NA, Gleizes PE, Lafontaine DLJ, MacInnes AW. O'Donohue MF, et al. Among authors: houtkooper rh. Blood. 2022 May 26;139(21):3111-3126. doi: 10.1182/blood.2021011846. Blood. 2022. PMID: 35213692 Free PMC article.
Upregulation of the AMPK-FOXO1-PDK4 pathway is a primary mechanism of pyruvate dehydrogenase activity reduction in tafazzin-deficient cells.
Liang Z, Ralph-Epps T, Schmidtke MW, Lazcano P, Denis SW, Balážová M, Teixeira J NDR, Chakkour M, Hazime S, Ren M, Schlame M, Houtkooper RH, Greenberg ML. Liang Z, et al. Among authors: houtkooper rh. Sci Rep. 2024 May 20;14(1):11497. doi: 10.1038/s41598-024-62262-1. Sci Rep. 2024. PMID: 38769106 Free PMC article.
Barth syndrome cells display widespread remodeling of mitochondrial complexes without affecting metabolic flux distribution.
Chatzispyrou IA, Guerrero-Castillo S, Held NM, Ruiter JPN, Denis SW, IJlst L, Wanders RJ, van Weeghel M, Ferdinandusse S, Vaz FM, Brandt U, Houtkooper RH. Chatzispyrou IA, et al. Among authors: houtkooper rh. Biochim Biophys Acta Mol Basis Dis. 2018 Nov;1864(11):3650-3658. doi: 10.1016/j.bbadis.2018.08.041. Epub 2018 Sep 1. Biochim Biophys Acta Mol Basis Dis. 2018. PMID: 30251684 Free article.
Immunometabolic rewiring of tubular epithelial cells in kidney disease.
van der Rijt S, Leemans JC, Florquin S, Houtkooper RH, Tammaro A. van der Rijt S, et al. Among authors: houtkooper rh. Nat Rev Nephrol. 2022 Sep;18(9):588-603. doi: 10.1038/s41581-022-00592-x. Epub 2022 Jul 7. Nat Rev Nephrol. 2022. PMID: 35798902 Review.
Ophthalmic acid is a glutathione regulating tripeptide.
Schomakers BV, Jillings SL, van Weeghel M, Vaz FM, Salomons GS, Janssens GE, Houtkooper RH. Schomakers BV, et al. Among authors: houtkooper rh. FEBS J. 2024 Jan 20. doi: 10.1111/febs.17061. Online ahead of print. FEBS J. 2024. PMID: 38245827
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.
186 results