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dc.contributor.authorAbekhoukh, Sabiha
dc.contributor.authorŞahin, H. Bahar
dc.contributor.authorGrossi, Mauro
dc.contributor.authorZongaro, Samantha
dc.contributor.authorMaurin, Thomas
dc.contributor.authorMadrigal, Irene
dc.contributor.authorKazue-Sugioka, Daniele
dc.contributor.authorRaas-Rothschild, Annick
dc.contributor.authorDoulazmi, Mohamed
dc.contributor.authorCarrera, Pilar
dc.contributor.authorStachon, Andrea
dc.contributor.authorScherer, Steven
dc.contributor.authorDo Nascimento, Maria Rita Drula
dc.contributor.authorTrembleau, Alain
dc.contributor.authorArroyo, Ignacio
dc.contributor.authorSzatmari, Peter
dc.contributor.authorSmith, Isabel M.
dc.contributor.authorMila, Montserrat
dc.contributor.authorSmith, Adam C.
dc.contributor.authorGiangrande, Angela
dc.contributor.authorCaille, Isabelle
dc.contributor.authorBardoni, Barbara
dc.date.accessioned2019-06-27T08:01:22Z
dc.date.available2019-06-27T08:01:22Z
dc.date.issued2017
dc.identifier.issn1754-8403
dc.identifier.issn1754-8411
dc.identifier.urihttps://hdl.handle.net/20.500.12469/356
dc.identifier.urihttps://doi.org/10.1242/dmm.025809
dc.description.abstractCytoplasmic FMRP interacting protein 1 (CYFIP1) is a candidate gene for intellectual disability (ID) autism schizophrenia and epilepsy. It is a member of a family of proteins that is highly conserved during evolution sharing high homology with its Drosophila homolog dCYFIP. CYFIP1 interacts with the Fragile X mental retardation protein (FMRP encoded by the FMR1 gene) whose absence causes Fragile X syndrome and with the translation initiation factor eIF4E. It is a member of theWAVE regulatory complex (WRC) thus representing a link between translational regulation and the actin cytoskeleton. Here we present data showing a correlation between mRNA levels of CYFIP1 and other members of the WRC. This suggests a tight regulation of the levels of the WRC members not only by post-translational mechanisms as previously hypothesized. Moreover we studied the impact of loss of function of both CYFIP1 and FMRP on neuronal growth and differentiation in two animal models -fly and mouse. We show that these two proteins antagonize each other's function not only during neuromuscular junction growth in the fly but also during new neuronal differentiation in the olfactory bulb of adult mice. Mechanistically FMRP and CYFIP1 modulate mTor signaling in an antagonistic manner likely via independent pathways supporting the results obtained in mouse as well as in fly at the morphological level. Collectively our results illustrate a new model to explain the cellular roles of FMRP and CYFIP1 and the molecular significance of their interaction.
dc.language.isoEnglish
dc.publisherCompany of Biologists Ltd
dc.rightsinfo:eu-repo/semantics/openAccessen_US
dc.subjectFragile X
dc.subjectIntellectual disability
dc.subjectAutism
dc.subjectCYFIP1
dc.subjectBP1-BP2 deletion
dc.titleNew insights into the regulatory function of CYFIP1 in the context of WAVE- and FMRP-containing complexes
dc.typeArticle
dc.identifier.startpage463
dc.identifier.endpage474
dc.relation.journalDisease Models & Mechanisms
dc.identifier.issue4
dc.identifier.volume10
dc.identifier.wosWOS:000398899500011
dc.identifier.doi10.1242/dmm.025809
dc.contributor.khasauthorŞahin, H. Bahar


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