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Ribosomal protein gene RPL9 variants can differentially impair ribosome function and cellular metabolism.
Lezzerini M, Penzo M, O'Donohue MF, Marques Dos Santos Vieira C, Saby M, Elfrink HL, Diets IJ, Hesse AM, Couté Y, Gastou M, Nin-Velez A, Nikkels PGJ, Olson AN, Zonneveld-Huijssoon E, Jongmans MCJ, Zhang G, van Weeghel M, Houtkooper RH, Wlodarski MW, Kuiper RP, Bierings MB, van der Werff Ten Bosch J, Leblanc T, Montanaro L, Dinman JD, Da Costa L, Gleizes PE, MacInnes AW. Lezzerini M, et al. Among authors: gleizes pe. Nucleic Acids Res. 2020 Jan 24;48(2):770-787. doi: 10.1093/nar/gkz1042. Nucleic Acids Res. 2020. PMID: 31799629 Free PMC article.
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: gleizes pe. Blood. 2022 May 26;139(21):3111-3126. doi: 10.1182/blood.2021011846. Blood. 2022. PMID: 35213692 Free PMC article.
[Diamond-Blackfan anemia reveals the dark side of ribosome biogenesis].
Aguissa-Touré AH, Da Costa L, Leblanc T, Tchernia G, Fribourg S, Gleizes PE. Aguissa-Touré AH, et al. Among authors: gleizes pe. Med Sci (Paris). 2009 Jan;25(1):69-76. doi: 10.1051/medsci/200925169. Med Sci (Paris). 2009. PMID: 19154697 Free article. Review. French.
An overview of pre-ribosomal RNA processing in eukaryotes.
Henras AK, Plisson-Chastang C, O'Donohue MF, Chakraborty A, Gleizes PE. Henras AK, et al. Among authors: gleizes pe. Wiley Interdiscip Rev RNA. 2015 Mar-Apr;6(2):225-42. doi: 10.1002/wrna.1269. Epub 2014 Oct 27. Wiley Interdiscip Rev RNA. 2015. PMID: 25346433 Free PMC article. Review.
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: gleizes pe. 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.
Molecular approaches to diagnose Diamond-Blackfan anemia: The EuroDBA experience.
Da Costa L, O'Donohue MF, van Dooijeweert B, Albrecht K, Unal S, Ramenghi U, Leblanc T, Dianzani I, Tamary H, Bartels M, Gleizes PE, Wlodarski M, MacInnes AW. Da Costa L, et al. Among authors: gleizes pe. Eur J Med Genet. 2018 Nov;61(11):664-673. doi: 10.1016/j.ejmg.2017.10.017. Epub 2017 Oct 26. Eur J Med Genet. 2018. PMID: 29081386 Free article. Review.
76 results