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Page 1
FFAT motif phosphorylation controls formation and lipid transfer function of inter-organelle contacts.
Di Mattia T, Martinet A, Ikhlef S, McEwen AG, Nominé Y, Wendling C, Poussin-Courmontagne P, Voilquin L, Eberling P, Ruffenach F, Cavarelli J, Slee J, Levine TP, Drin G, Tomasetto C, Alpy F. Di Mattia T, et al. Among authors: ruffenach f. EMBO J. 2020 Dec 1;39(23):e104369. doi: 10.15252/embj.2019104369. Epub 2020 Oct 30. EMBO J. 2020. PMID: 33124732 Free PMC article.
Sequestration of DROSHA and DGCR8 by expanded CGG RNA repeats alters microRNA processing in fragile X-associated tremor/ataxia syndrome.
Sellier C, Freyermuth F, Tabet R, Tran T, He F, Ruffenach F, Alunni V, Moine H, Thibault C, Page A, Tassone F, Willemsen R, Disney MD, Hagerman PJ, Todd PK, Charlet-Berguerand N. Sellier C, et al. Among authors: ruffenach f. Cell Rep. 2013 Mar 28;3(3):869-80. doi: 10.1016/j.celrep.2013.02.004. Epub 2013 Mar 7. Cell Rep. 2013. PMID: 23478018 Free PMC article.
rbFOX1/MBNL1 competition for CCUG RNA repeats binding contributes to myotonic dystrophy type 1/type 2 differences.
Sellier C, Cerro-Herreros E, Blatter M, Freyermuth F, Gaucherot A, Ruffenach F, Sarkar P, Puymirat J, Udd B, Day JW, Meola G, Bassez G, Fujimura H, Takahashi MP, Schoser B, Furling D, Artero R, Allain FHT, Llamusi B, Charlet-Berguerand N. Sellier C, et al. Among authors: ruffenach f. Nat Commun. 2018 May 22;9(1):2009. doi: 10.1038/s41467-018-04370-x. Nat Commun. 2018. PMID: 29789616 Free PMC article.
Translation of GGC repeat expansions into a toxic polyglycine protein in NIID defines a novel class of human genetic disorders: The polyG diseases.
Boivin M, Deng J, Pfister V, Grandgirard E, Oulad-Abdelghani M, Morlet B, Ruffenach F, Negroni L, Koebel P, Jacob H, Riet F, Dijkstra AA, McFadden K, Clayton WA, Hong D, Miyahara H, Iwasaki Y, Sone J, Wang Z, Charlet-Berguerand N. Boivin M, et al. Among authors: ruffenach f. Neuron. 2021 Jun 2;109(11):1825-1835.e5. doi: 10.1016/j.neuron.2021.03.038. Epub 2021 Apr 21. Neuron. 2021. PMID: 33887199 Free PMC article.
13 results