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Page 1
Reciprocal changes in DNA methylation and hydroxymethylation and a broad repressive epigenetic switch characterize FMR1 transcriptional silencing in fragile X syndrome.
Brasa S, Mueller A, Jacquemont S, Hahne F, Rozenberg I, Peters T, He Y, McCormack C, Gasparini F, Chibout SD, Grenet O, Moggs J, Gomez-Mancilla B, Terranova R. Brasa S, et al. Clin Epigenetics. 2016 Feb 5;8:15. doi: 10.1186/s13148-016-0181-x. eCollection 2016. Clin Epigenetics. 2016. PMID: 26855684 Free PMC article.
Protein synthesis levels are increased in a subset of individuals with fragile X syndrome.
Jacquemont S, Pacini L, Jønch AE, Cencelli G, Rozenberg I, He Y, D'Andrea L, Pedini G, Eldeeb M, Willemsen R, Gasparini F, Tassone F, Hagerman R, Gomez-Mancilla B, Bagni C. Jacquemont S, et al. Hum Mol Genet. 2018 Nov 1;27(21):3825. doi: 10.1093/hmg/ddy291. Hum Mol Genet. 2018. PMID: 30107584 Free PMC article. No abstract available.
Epigenetic modification of the FMR1 gene in fragile X syndrome is associated with differential response to the mGluR5 antagonist AFQ056.
Jacquemont S, Curie A, des Portes V, Torrioli MG, Berry-Kravis E, Hagerman RJ, Ramos FJ, Cornish K, He Y, Paulding C, Neri G, Chen F, Hadjikhani N, Martinet D, Meyer J, Beckmann JS, Delange K, Brun A, Bussy G, Gasparini F, Hilse T, Floesser A, Branson J, Bilbe G, Johns D, Gomez-Mancilla B. Jacquemont S, et al. Sci Transl Med. 2011 Jan 5;3(64):64ra1. doi: 10.1126/scitranslmed.3001708. Sci Transl Med. 2011. PMID: 21209411 Clinical Trial.
AFQ056, a new mGluR5 antagonist for treatment of fragile X syndrome.
Levenga J, Hayashi S, de Vrij FM, Koekkoek SK, van der Linde HC, Nieuwenhuizen I, Song C, Buijsen RA, Pop AS, Gomezmancilla B, Nelson DL, Willemsen R, Gasparini F, Oostra BA. Levenga J, et al. Neurobiol Dis. 2011 Jun;42(3):311-7. doi: 10.1016/j.nbd.2011.01.022. Epub 2011 Feb 21. Neurobiol Dis. 2011. PMID: 21316452
The challenges of clinical trials in fragile X syndrome.
Jacquemont S, Berry-Kravis E, Hagerman R, von Raison F, Gasparini F, Apostol G, Ufer M, Des Portes V, Gomez-Mancilla B. Jacquemont S, et al. Psychopharmacology (Berl). 2014 Mar;231(6):1237-50. doi: 10.1007/s00213-013-3289-0. Epub 2013 Oct 31. Psychopharmacology (Berl). 2014. PMID: 24173622 Free PMC article. Review.
83 results