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Depdc5 knockout rat: A novel model of mTORopathy PDF available through Get Fulltext Research

Marsan, Elise Ishida, Saeko Schramm, Adrien Weckhuysen, Sarah Muraca, Giuseppe Lecas, Sarah Liang, Ning Treins, Caroline Mario Pende Roussel, Delphine ...

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...

Neonatal hypoxic preconditioning involves vascular endothelial growth factor.

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...

Identification of brain substrates of transglutaminase by functional proteomics supports its role in neurodegenerative d...

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...

Pharmacological rescue of adult hippocampal neurogenesis in a mouse model of X-linked intellectual disability

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 ...

PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome. PDF available through Get Fulltext Research

Trochet, Delphine O'Brien, Louise M Gozal, David Trang, Ha Nordenskjöld, Agneta Laudier, Béatrice Svensson, Pär-Johan Uhrig, Sabine Cole, Trevor Niemann, Stephan ...

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...

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