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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: dinman jd. 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.
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: dinman jd. Nucleic Acids Res. 2020 Jan 24;48(2):770-787. doi: 10.1093/nar/gkz1042. Nucleic Acids Res. 2020. PMID: 31799629 Free PMC article.
Response to: Lack of evidence for ribosomal frameshifting in ATP7B mRNA decoding.
Meydan S, Klepacki D, Karthikeyan S, Margus T, Thomas P, Jones JE, Khan YA, Briggs J, Dinman JD, Vázquez-Laslop N, Mankin AS. Meydan S, et al. Among authors: dinman jd. Mol Cell. 2022 Oct 6;82(19):3523. doi: 10.1016/j.molcel.2022.08.025. Epub 2022 Sep 16. Mol Cell. 2022. PMID: 36115343 Free article. No abstract available.
The T-cell leukemia-associated ribosomal RPL10 R98S mutation enhances JAK-STAT signaling.
Girardi T, Vereecke S, Sulima SO, Khan Y, Fancello L, Briggs JW, Schwab C, de Beeck JO, Verbeeck J, Royaert J, Geerdens E, Vicente C, Bornschein S, Harrison CJ, Meijerink JP, Cools J, Dinman JD, Kampen KR, De Keersmaecker K. Girardi T, et al. Among authors: dinman jd. Leukemia. 2018 Mar;32(3):809-819. doi: 10.1038/leu.2017.225. Epub 2017 Jul 24. Leukemia. 2018. PMID: 28744013 Free PMC article.
148 results