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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.
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.
Drug development for neurodevelopmental disorders: lessons learned from fragile X syndrome.
Berry-Kravis EM, Lindemann L, Jønch AE, Apostol G, Bear MF, Carpenter RL, Crawley JN, Curie A, Des Portes V, Hossain F, Gasparini F, Gomez-Mancilla B, Hessl D, Loth E, Scharf SH, Wang PP, Von Raison F, Hagerman R, Spooren W, Jacquemont S. Berry-Kravis EM, et al. Nat Rev Drug Discov. 2018 Apr;17(4):280-299. doi: 10.1038/nrd.2017.221. Epub 2017 Dec 8. Nat Rev Drug Discov. 2018. PMID: 29217836 Free PMC article. Review.
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.
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.
83 results