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Page 1
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: de keersmaecker k. Blood. 2022 May 26;139(21):3111-3126. doi: 10.1182/blood.2021011846. Blood. 2022. PMID: 35213692 Free PMC article.
Ribosomal RNA analysis in the diagnosis of Diamond-Blackfan Anaemia.
Quarello P, Garelli E, Carando A, Mancini C, Foglia L, Botto C, Farruggia P, De Keersmaecker K, Aspesi A, Ellis SR, Dianzani I, Ramenghi U. Quarello P, et al. Among authors: de keersmaecker k. Br J Haematol. 2016 Mar;172(5):782-5. doi: 10.1111/bjh.13880. Epub 2016 Jan 13. Br J Haematol. 2016. PMID: 26763766 Free article.
The ribosomal RPL10 R98S mutation drives IRES-dependent BCL-2 translation in T-ALL.
Kampen KR, Sulima SO, Verbelen B, Girardi T, Vereecke S, Rinaldi G, Verbeeck J, Op de Beeck J, Uyttebroeck A, Meijerink JPP, Moorman AV, Harrison CJ, Spincemaille P, Cools J, Cassiman D, Fendt SM, Vermeersch P, De Keersmaecker K. Kampen KR, et al. Among authors: de keersmaecker k. Leukemia. 2019 Feb;33(2):319-332. doi: 10.1038/s41375-018-0176-z. Epub 2018 Jun 21. Leukemia. 2019. PMID: 29930300 Free PMC article.
Ribosomal Lesions Promote Oncogenic Mutagenesis.
Sulima SO, Kampen KR, Vereecke S, Pepe D, Fancello L, Verbeeck J, Dinman JD, De Keersmaecker K. Sulima SO, et al. Among authors: de keersmaecker k. Cancer Res. 2019 Jan 15;79(2):320-327. doi: 10.1158/0008-5472.CAN-18-1987. Epub 2018 Nov 27. Cancer Res. 2019. PMID: 30482776 Free PMC article.
Translatome analysis reveals altered serine and glycine metabolism in T-cell acute lymphoblastic leukemia cells.
Kampen KR, Fancello L, Girardi T, Rinaldi G, Planque M, Sulima SO, Loayza-Puch F, Verbelen B, Vereecke S, Verbeeck J, Op de Beeck J, Royaert J, Vermeersch P, Cassiman D, Cools J, Agami R, Fiers M, Fendt SM, De Keersmaecker K. Kampen KR, et al. Among authors: de keersmaecker k. Nat Commun. 2019 Jun 11;10(1):2542. doi: 10.1038/s41467-019-10508-2. Nat Commun. 2019. PMID: 31186416 Free PMC article.
Hallmarks of ribosomopathies.
Kampen KR, Sulima SO, Vereecke S, De Keersmaecker K. Kampen KR, et al. Among authors: de keersmaecker k. Nucleic Acids Res. 2020 Feb 20;48(3):1013-1028. doi: 10.1093/nar/gkz637. Nucleic Acids Res. 2020. PMID: 31350888 Free PMC article. Review.
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