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PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature.
Reijnders MRF, Janowski R, Alvi M, Self JE, van Essen TJ, Vreeburg M, Rouhl RPW, Stevens SJC, Stegmann APA, Schieving J, Pfundt R, van Dijk K, Smeets E, Stumpel CTRM, Bok LA, Cobben JM, Engelen M, Mansour S, Whiteford M, Chandler KE, Douzgou S, Cooper NS, Tan EC, Foo R, Lai AHM, Rankin J, Green A, Lönnqvist T, Isohanni P, Williams S, Ruhoy I, Carvalho KS, Dowling JJ, Lev DL, Sterbova K, Lassuthova P, Neupauerová J, Waugh JL, Keros S, Clayton-Smith J, Smithson SF, Brunner HG, van Hoeckel C, Anderson M, Clowes VE, Siu VM, Ddd Study T, Selber P, Leventer RJ, Nellaker C, Niessing D, Hunt D, Baralle D. Reijnders MRF, et al. Among authors: niessing d. J Med Genet. 2018 Feb;55(2):104-113. doi: 10.1136/jmedgenet-2017-104946. Epub 2017 Nov 2. J Med Genet. 2018. PMID: 29097605 Free PMC article. Review.
Depletion of the RNA-binding protein PURA triggers changes in posttranscriptional gene regulation and loss of P-bodies.
Molitor L, Klostermann M, Bacher S, Merl-Pham J, Spranger N, Burczyk S, Ketteler C, Rusha E, Tews D, Pertek A, Proske M, Busch A, Reschke S, Feederle R, Hauck SM, Blum H, Drukker M, Fischer-Posovszky P, König J, Zarnack K, Niessing D. Molitor L, et al. Among authors: niessing d. Nucleic Acids Res. 2023 Feb 22;51(3):1297-1316. doi: 10.1093/nar/gkac1237. Nucleic Acids Res. 2023. PMID: 36651277 Free PMC article.
Human TRMT2A methylates tRNA and contributes to translation fidelity.
Witzenberger M, Burczyk S, Settele D, Mayer W, Welp LM, Heiss M, Wagner M, Monecke T, Janowski R, Carell T, Urlaub H, Hauck SM, Voigt A, Niessing D. Witzenberger M, et al. Among authors: niessing d. Nucleic Acids Res. 2023 Sep 8;51(16):8691-8710. doi: 10.1093/nar/gkad565. Nucleic Acids Res. 2023. PMID: 37395448 Free PMC article.
PURA syndrome-causing mutations impair PUR-domain integrity and affect P-body association.
Proske M, Janowski R, Bacher S, Kang HS, Monecke T, Koehler T, Hutten S, Tretter J, Crois A, Molitor L, Varela-Rial A, Fino R, Donati E, De Fabritiis G, Dormann D, Sattler M, Niessing D. Proske M, et al. Among authors: niessing d. Elife. 2024 Apr 24;13:RP93561. doi: 10.7554/eLife.93561. Elife. 2024. PMID: 38655849 Free PMC article.
Inherited PURA Pathogenic Variant Associated With a Mild Neurodevelopmental Disorder.
Hildebrand MS, Braden RO, Lauretta ML, Kaspi A, Leventer RJ, Anderson M, Goel H, Bahlo M, Scheffer IE, Amor DJ, Janowski R, Niessing D, Morgan AT. Hildebrand MS, et al. Among authors: niessing d. Neurol Genet. 2024 Aug 6;10(5):e200181. doi: 10.1212/NXG.0000000000200181. eCollection 2024 Oct. Neurol Genet. 2024. PMID: 39131487 Free PMC article.
mRNA transport meets membrane traffic.
Jansen RP, Niessing D, Baumann S, Feldbrügge M. Jansen RP, et al. Among authors: niessing d. Trends Genet. 2014 Sep;30(9):408-17. doi: 10.1016/j.tig.2014.07.002. Epub 2014 Aug 7. Trends Genet. 2014. PMID: 25110341 Review.
71 results