Mutations in ACTL6B Cause Neurodevelopmental Deficits and Epilepsy and Lead to Loss of Dendrites in Human Neurons

Autor: Jacques L. Michaud, Jessica Sebastian, Hanrong Wu, Dick Lindhout, Karla Manzano-Vargas, Nuwan C. Hettige, Ingrid M. Wentzensen, Huashan Peng, Amy Crunk, Heika Silviera, Malvin Jefri, Henry Houlden, Fadi F. Hamdan, Zahia Aouabed, Stephanie Efthymiou, Xin Zhang, Renske Oegema, Arnaud Tanti, Jerry Vockley, Gustavo Turecki, Julien van Gils, Amber G. Begtrup, Christina Nassif, Gunnar Houge, Naomichi Matsumoto, Thomas Bourgeron, Jean-François Théroux, Emily Fassi, Noriko Miyake, Robert D. Nicholls, Jose E. Martinez, Kristin Herman, Lilit Antonyan, Philippe M. Campeau, Margaret G. Au, Dominic Nelson, Vincenzo Salpietro, Scott C. Bell, Pierre Priam, Joshua L. Deignan, Gregory M. Cooper, Rune Østern, Han G. Brunner, Dagmar Huhle, Amy Goldstein, John M. Graham, Christine Coubes, Koen L.I. van Gassen, Tabib Dabir, Maria Hafström, Simon Gravel, Sophie Ehresmann, Elsa Rossignol, Ilaria Kolobova, Walla Al-Hertani, Julie A. Lessard, Lionel Carmant, Sonja Martin, Richard Delorme, Carl Ernst, Jolien S. Klein Wassink-Ruiter, Naguib Mechawar, Yoshio Makita, Candice R. Finnila, Rami Abou Jamra, Anne Lortie, Justine Rousseau, Sarju G. Mehta, Lina Ghaloul-Gonzalez

Publikováno v: American Journal of Human Genetics, 104, 5, pp. 815-834
American Journal of Human Genetics, 104(5), 815. Cell Press
American Journal of Human Genetics, 104(5), 815-834. Cell Press
American Journal of Human Genetics, 104, 815-834
American Journal of Human Genetics
American Journal of Human Genetics, Elsevier (Cell Press), 2019, 104 (5), pp.815-834. ⟨10.1016/j.ajhg.2019.03.022⟩
American Journal of Human Genetics, 2019, 104 (5), pp.815-834. ⟨10.1016/j.ajhg.2019.03.022⟩
American Journal of Human Genetics, 104(5), 815-834. CELL PRESS

International audience; We identified individuals with variations in ACTL6B, a component of the chromatin remodeling machinery including the BAF complex. Ten individuals harbored bi-allelic mutations and presented with global developmental delay, epi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cd69a3db8e881fea7dc94ed364dafd6d
https://hdl.handle.net/2066/203584

The Combined Effects of Inhibitory and Electrical Synapses in Synchrony

Autor: David Golomb, Benjamin Pfeuty, Germán Mato, David Hansel

Publikováno v: Neural Computation
Neural Computation, Massachusetts Institute of Technology Press (MIT Press), 2005, 17(3), pp.633-670. 〈10.1162/0899766053019917〉
Neural Computation, Massachusetts Institute of Technology Press (MIT Press), 2005, 17 (3), pp.633-70. 〈10.1162/0899766053019917〉
Neural Computation, Massachusetts Institute of Technology Press (MIT Press), 2005, 17(3), pp.633-670. ⟨10.1162/0899766053019917⟩
Neural Computation, Massachusetts Institute of Technology Press (MIT Press), 2005, 17 (3), pp.633-70. ⟨10.1162/0899766053019917⟩

Recent experimental results have shown that GABAergic interneurons in the central nervous system are frequently connected via electrical synapses. Hence, depending on the area or the subpopulation, interneurons interact via inhibitory synapses or ele

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ffc6eac831338389f170c42f38e88391
https://doi.org/10.1162/0899766053019917

Synthesis of New Alkylaminooxysterols with Potent Cell Differentiating Activities: Identification of Leads for the Treatment of Cancer and Neurodegenerative Diseases

Autor: Bruno Payré, Michael R. Paillasse, Marc Poirot, Sandrine Silvente-Poirot, Philippe de Medina

Publikováno v: Journal of Medicinal Chemistry
Journal of Medicinal Chemistry, American Chemical Society, 2009, 52 (23), pp.7765-77. ⟨10.1021/jm901063e⟩
Journal of Medicinal Chemistry, 2009, 52 (23), pp.7765-77. ⟨10.1021/jm901063e⟩

International audience; We describe here the syntheses and the biological properties of new alkylaminooxysterols. Compounds were synthesized through the trans-diaxial aminolysis of 5,6-alpha-epoxysterols with various natural amines including histamin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66f2003fedc2be085290f66a3a3e025e
https://doi.org/10.1021/jm901063e

Neuronal distribution of Spatial in the developing cerebellum and hippocampus and its somatodendritic association with the kinesin motor KIF17

Autor: Nadia Dahmane, Magali Irla, Carla Fernandez, Geneviève Chazal, Catherine Nguyen, Lionel Chasson, Geneviève Victorero, Murielle Saade

Publikováno v: Experimental Cell Research
Experimental Cell Research, Elsevier, 2007, 313 (20), pp.4107-19. ⟨10.1016/j.yexcr.2007.09.006⟩
Experimental Cell Research, 2007, 313 (20), pp.4107-19. ⟨10.1016/j.yexcr.2007.09.006⟩

Magali Irla, Murielle Saade, Geneviève Chazal, and Catherine Nguyen contributed equally to this work; International audience; We identified the Spatial (Stromal Protein Associated with Thymii and Lymph-node) gene from an adult thymus mouse library o

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::053f9cea8284fa061d3168d1178db1d6
https://doi.org/10.1016/j.yexcr.2007.09.006

Ultrastructural plasticity in the rat suprachiasmatic nucleus. Possible involvement in clock entrainment

Autor: Olivier Bosler, Fabienne Guillaumond, Denis Becquet, Clémence Girardet, Anne-Marie François-Bellan

Publikováno v: Glia
Glia, 2008, 56 (3), pp.294-305. ⟨10.1002/glia.20613⟩
Glia, Wiley, 2008, 56 (3), pp.294-305. ⟨10.1002/glia.20613⟩

International audience; Circadian rhythms in mammals are synchronized to the light (L)/dark (D) cycle through messages relaying in the master clock, the suprachiasmatic nucleus of the hypothalamus (SCN). Here, we provide evidence that the SCN undergo

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e2a257b58c326644958c610ae9bffdd8
https://doi.org/10.1002/glia.20613