Progranulin is an FMRP target that influences macroorchidism but not behaviour in a mouse model of Fragile X Syndrome

Autor: Benjamin Life, Luis E.B. Bettio, Ilse Gantois, Brian R. Christie, Blair R. Leavitt

Publikováno v: Current Research in Neurobiology, Vol 5, Iss , Pp 100094- (2023)

A growing body of evidence has implicated progranulin in neurodevelopment and indicated that aberrant progranulin expression may be involved in neurodevelopmental disease. Specifically, increased progranulin expression in the prefrontal cortex has be

Externí odkaz: https://doaj.org/article/3f8d6fe70d1643a18042d4f2ae19847b

Comparison of the spatial-cognitive functions of dorsomedial striatum and anterior cingulate cortex in mice.

Autor: Tine Pooters, Annelies Laeremans, Ilse Gantois, Ben Vermaercke, Lutgarde Arckens, Rudi D'Hooge

Publikováno v: PLoS ONE, Vol 12, Iss 5, p e0176295 (2017)

Neurons in anterior cingulate cortex (aCC) project to dorsomedial striatum (DMS) as part of a corticostriatal circuit with putative roles in learning and other cognitive functions. In the present study, the spatial-cognitive importance of aCC and DMS

Externí odkaz: https://doaj.org/article/6ffe9c4034704522a3961a997a7bc9c3

Haploinsufficiency of the autism candidate gene Neurobeachin induces autism-like behaviors and affects cellular and molecular processes of synaptic plasticity in mice

Autor: Kim Nuytens, Ilse Gantois, Pieter Stijnen, Emilia Iscru, Annelies Laeremans, Lutgarde Serneels, Lien Van Eylen, Stephen A. Liebhaber, Koen Devriendt, Detlef Balschun, Lutgarde Arckens, John W.M. Creemers, Rudi D'Hooge

Publikováno v: Neurobiology of Disease, Vol 51, Iss , Pp 144-151 (2013)

Neurobeachin (NBEA), a brain-enriched multidomain scaffolding protein involved in neurotransmitter release and synaptic functioning, has been identified as a candidate gene for autism spectrum disorder (ASD) in four unrelated patients haploinsufficie

Externí odkaz: https://doaj.org/article/5f713f08bcc14d58a5e0bc9fadd254b3

Expression profiling suggests underexpression of the GABAA receptor subunit δ in the fragile X knockout mouse model

Autor: Ilse Gantois, Jo Vandesompele, Frank Speleman, Edwin Reyniers, Rudi D'Hooge, Lies-Anne Severijnen, Rob Willemsen, Flora Tassone, R. Frank Kooy

Publikováno v: Neurobiology of Disease, Vol 21, Iss 2, Pp 346-357 (2006)

It is still unclear why absence of the fragile X protein (FMRP) leads to mental retardation and specific behavioral problems. In neurons, the protein transports specific mRNAs towards the actively translating ribosomes near the synapses.To unravel th

Externí odkaz: https://doaj.org/article/351b44427f144ba98db648d0af6a7597

Metformin ameliorates core deficits in a mouse model of fragile X syndrome

Autor: Shane Wiebe, Karim Nader, Argel Aguilar-Valles, Vinh Tai Truong, Ilse Gantois, Seyed Mehdi Jafarnejad, Jean-Claude Lacaille, Clément Chapat, Nahum Sonenberg, Vijendra Sharma, Jelena Popic, Erika Freemantle, Christos G. Gkogkas, Isabelle A. Groves, Anmol Nagpal, Tine Pooters, Agnieszka Skalecka, Karine Gamache, Arkady Khoutorsky, Ruifeng Cao, Elizabeth A. McCullagh

Publikováno v: Gantois, I, Khoutorsky, A, Popic, J, Aguilar-Valles, A, Freemantle, E, Cao, R, Sharma, V, Pooters, T, Nagpal, A, Skalecka, A, Truong, V T, Wiebe, S, Groves, I A, Jafarnejad, S M, Chapat, C, McCullagh, E A, Gamache, K, Nader, K, Lacaille, J-C, Gkogkas, C G & Sonenberg, N 2017, ' Metformin ameliorates core deficits in a mouse model of fragile X syndrome ', Nature Medicine, vol. 23, pp. 674-677 . https://doi.org/10.1038/nm.4335

Fragile X syndrome (FXS) is the leading monogenic cause of autism spectrum disorders (ASD). Trinucleotide repeat expansions in FMR1 abolish FMRP expression, leading to hyperactivation of ERK and mTOR signaling upstream of mRNA translation. Here we sh

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f22dfc7b820d1427e3ff684679f6a038
https://doi.org/10.1038/nm.4335