Marsan, Elise Ishida, Saeko Schramm, Adrien Weckhuysen, Sarah Muraca, Giuseppe Lecas, Sarah Liang, Ning Treins, Caroline Mario Pende Roussel, Delphine
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Published in
Neurobiology of Disease
DEP-domain containing 5 (DEPDC5), encoding a repressor of the mechanistic target of rapamycin complex 1 (mTORC1) signaling pathway, has recently emerged as a major gene mutated in familial focal epilepsies and focal cortical dysplasia. Here we established a global knockout rat using TALEN technology to investigate in vivo the impact of Depdc5-defic...
Laudenbach, Vincent Fontaine, Romain H Medja, Fadia Carmeliet, Peter Hicklin, Daniel J Jorge Gallego Leroux, Philippe Marret, Stéphane Pierre Gressens
Published in
Neurobiology of Disease
We studied hypoxic preconditioning (HxP) in the murine developing brain, focusing on the role for vascular endothelial growth factor (VEGF). Newborn mice were used as follows: (1) HxP (or normoxia) then intracerebral (i.c.) NMDA or AMPA-kainate agonist; (2) HxP then intraperitoneal (i.p.) anti-VEGFR2/Flk1 or anti-VEGFR1/Flt1 monoclonal blocking ant...
André, William Nondier, Isabelle Valensi, Maud François Guillonneau Federici, Christian Hoffner, Guylaine Djian, Philippe
Published in
Neurobiology of Disease
Transglutaminases are calcium-dependent enzymes that catalyze the formation of ε-(γ-glutamyl)lysine isopeptide bonds between specific glutamine and lysine residues. Some transglutaminase isoforms are present in the brain and are thought to participate in the protein aggregation characteristic of neurological diseases such as Huntington, Alzheimer's...
Allegra, Manuela Spalletti, Cristina Vignoli, Beatrice Azzimondi, Stefano Busti, Irene Pierre Billuart Canossa, Marco Caleo, Matteo
Published in
Neurobiology of Disease
Oligophrenin-1 (OPHN1) is a Rho GTPase activating protein whose mutations cause X-linked intellectual disability (XLID). How loss of function of Ophn1 affects neuronal development is only partly understood. Here we have exploited adult hippocampal neurogenesis to dissect the steps of neuronal differentiation that are affected by Ophn1 deletion. We ...
Trochet, Delphine O'Brien, Louise M Gozal, David Trang, Ha Nordenskjöld, Agneta Laudier, Béatrice Svensson, Pär-Johan Uhrig, Sabine Cole, Trevor Niemann, Stephan
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Published in
Neurobiology of Disease
The Phox2b gene is necessary for autonomic nervous-system development. Phox2b-/- mice die in utero with absent autonomic nervous system circuits, since autonomic nervous system neurons either fail to form or degenerate. We first identified the Phox2b human ortholog, PHOX2B, as the gene underlying congenital central hypoventilation syndrome (CCHS, o...