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Page 1
Active Ribosome Profiling with RiboLace.
Clamer M, Tebaldi T, Lauria F, Bernabò P, Gómez-Biagi RF, Marchioretto M, Kandala DT, Minati L, Perenthaler E, Gubert D, Pasquardini L, Guella G, Groen EJN, Gillingwater TH, Quattrone A, Viero G. Clamer M, et al. Among authors: perenthaler e. Cell Rep. 2018 Oct 23;25(4):1097-1108.e5. doi: 10.1016/j.celrep.2018.09.084. Cell Rep. 2018. PMID: 30355487 Free article.
Functional Dissection of the Enhancer Repertoire in Human Embryonic Stem Cells.
Barakat TS, Halbritter F, Zhang M, Rendeiro AF, Perenthaler E, Bock C, Chambers I. Barakat TS, et al. Among authors: perenthaler e. Cell Stem Cell. 2018 Aug 2;23(2):276-288.e8. doi: 10.1016/j.stem.2018.06.014. Epub 2018 Jul 19. Cell Stem Cell. 2018. PMID: 30033119 Free PMC article.
The Why of YY1: Mechanisms of Transcriptional Regulation by Yin Yang 1.
Verheul TCJ, van Hijfte L, Perenthaler E, Barakat TS. Verheul TCJ, et al. Among authors: perenthaler e. Front Cell Dev Biol. 2020 Sep 30;8:592164. doi: 10.3389/fcell.2020.592164. eCollection 2020. Front Cell Dev Biol. 2020. PMID: 33102493 Free PMC article. Review.
SMN-primed ribosomes modulate the translation of transcripts related to spinal muscular atrophy.
Lauria F, Bernabò P, Tebaldi T, Groen EJN, Perenthaler E, Maniscalco F, Rossi A, Donzel D, Clamer M, Marchioretto M, Omersa N, Orri J, Dalla Serra M, Anderluh G, Quattrone A, Inga A, Gillingwater TH, Viero G. Lauria F, et al. Among authors: perenthaler e. Nat Cell Biol. 2020 Oct;22(10):1239-1251. doi: 10.1038/s41556-020-00577-7. Epub 2020 Sep 21. Nat Cell Biol. 2020. PMID: 32958857 Free PMC article.
Bi-allelic variants in HOPS complex subunit VPS41 cause cerebellar ataxia and abnormal membrane trafficking.
Sanderson LE, Lanko K, Alsagob M, Almass R, Al-Ahmadi N, Najafi M, Al-Muhaizea MA, Alzaidan H, AlDhalaan H, Perenthaler E, van der Linde HC, Nikoncuk A, Kühn NA, Antony D, Owaidah TM, Raskin S, Vieira LGDR, Mombach R, Ahangari N, Silveira TRD, Ameziane N, Rolfs A, Alharbi A, Sabbagh RM, AlAhmadi K, Alawam B, Ghebeh H, AlHargan A, Albader AA, Binhumaid FS, Goljan E, Monies D, Mustafa OM, Aldosary M, AlBakheet A, Alyounes B, Almutairi F, Al-Odaib A, Aksoy DB, Basak AN, Palvadeau R, Trabzuni D, Rosenfeld JA, Karimiani EG, Meyer BF, Karakas B, Al-Mohanna F, Arold ST, Colak D, Maroofian R, Houlden H, Bertoli-Avella AM, Schmidts M, Barakat TS, van Ham TJ, Kaya N. Sanderson LE, et al. Among authors: perenthaler e. Brain. 2021 Apr 12;144(3):769-780. doi: 10.1093/brain/awaa459. Brain. 2021. PMID: 33764426 Free PMC article.
BICRA, a SWI/SNF Complex Member, Is Associated with BAF-Disorder Related Phenotypes in Humans and Model Organisms.
Barish S, Barakat TS, Michel BC, Mashtalir N, Phillips JB, Valencia AM, Ugur B, Wegner J, Scott TM, Bostwick B; Undiagnosed Diseases Network; Murdock DR, Dai H, Perenthaler E, Nikoncuk A, van Slegtenhorst M, Brooks AS, Keren B, Nava C, Mignot C, Douglas J, Rodan L, Nowak C, Ellard S, Stals K, Lynch SA, Faoucher M, Lesca G, Edery P, Engleman KL, Zhou D, Thiffault I, Herriges J, Gass J, Louie RJ, Stolerman E, Washington C, Vetrini F, Otsubo A, Pratt VM, Conboy E, Treat K, Shannon N, Camacho J, Wakeling E, Yuan B, Chen CA, Rosenfeld JA, Westerfield M, Wangler M, Yamamoto S, Kadoch C, Scott DA, Bellen HJ. Barish S, et al. Among authors: perenthaler e. Am J Hum Genet. 2020 Dec 3;107(6):1096-1112. doi: 10.1016/j.ajhg.2020.11.003. Epub 2020 Nov 23. Am J Hum Genet. 2020. PMID: 33232675 Free PMC article.
12 results