MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia

Autor: Ekin Ucuncu, Karthyayani Rajamani, Miranda S. C. Wilson, Daniel Medina-Cano, Nami Altin, Pierre David, Giulia Barcia, Nathalie Lefort, Céline Banal, Marie-Thérèse Vasilache-Dangles, Gaële Pitelet, Elsa Lorino, Nathalie Rabasse, Eric Bieth, Maha S. Zaki, Meral Topcu, Fatma Mujgan Sonmez, Damir Musaev, Valentina Stanley, Christine Bole-Feysot, Patrick Nitschké, Arnold Munnich, Nadia Bahi-Buisson, Catherine Fossoud, Fabienne Giuliano, Laurence Colleaux, Lydie Burglen, Joseph G. Gleeson, Nathalie Boddaert, Adolfo Saiardi, Vincent Cantagrel

Publikováno v: Nature Communications, Vol 11, Iss 1, Pp 1-16 (2020)

Tight regulation of inositol polyphosphate metabolism is essential for proper cell physiology. Here, the authors describe an early-onset neurodegenerative syndrome caused by loss-of-function mutations in the MINPP1 gene, characterised by intracellula

Externí odkaz: https://doaj.org/article/c86dc26738ec41afaa56ad56dca39196

Coronin 1 regulates cognition and behavior through modulation of cAMP/protein kinase A signaling.

Autor: Rajesh Jayachandran, Xiaolong Liu, Somdeb Bosedasgupta, Philipp Müller, Chun-Lei Zhang, Despina Moshous, Vera Studer, Jacques Schneider, Christel Genoud, Catherine Fossoud, Frédéric Gambino, Malik Khelfaoui, Christian Müller, Deborah Bartholdi, Helene Rossez, Michael Stiess, Xander Houbaert, Rolf Jaussi, Daniel Frey, Richard A Kammerer, Xavier Deupi, Jean-Pierre de Villartay, Andreas Lüthi, Yann Humeau, Jean Pieters

Publikováno v: PLoS Biology, Vol 12, Iss 3, p e1001820 (2014)

Cognitive and behavioral disorders are thought to be a result of neuronal dysfunction, but the underlying molecular defects remain largely unknown. An important signaling pathway involved in the regulation of neuronal function is the cyclic AMP/Prote

Externí odkaz: https://doaj.org/article/5f217f7498134941886d3e2799f2c271

MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia

Autor: Nathalie Rabasse, Catherine Fossoud, Nadia Bahi-Buisson, Miranda S. C. Wilson, Elsa Lorino, Celine Banal, Meral Topçu, Gaele Pitelet, Eric Bieth, Christine Bole-Feysot, Nami Altin, Vincent Cantagrel, Arnold Munnich, Marie-Therese Vasilache-Dangles, Fabienne Giuliano, Lydie Burglen, Adolfo Saiardi, Valentina Stanley, Nathalie Lefort, Giulia Barcia, Pierre David, Karthyayani Rajamani, Daniel Medina-Cano, Patrick Nitschke, Joseph G. Gleeson, Maha S. Zaki, Laurence Colleaux, Nathalie Boddaert, Fatma Mujgan Sonmez, Damir Musaev, Ekin Ucuncu

Publikováno v: Nature Communications
Nature Communications, Nature Publishing Group, 2020, 11 (1), pp.6087. ⟨10.1038/s41467-020-19919-y⟩
Nature Communications, 2020, 11 (1), pp.6087. ⟨10.1038/s41467-020-19919-y⟩
Nature Communications, Vol 11, Iss 1, Pp 1-16 (2020)

Inositol polyphosphates are vital metabolic and secondary messengers, involved in diverse cellular functions. Therefore, tight regulation of inositol polyphosphate metabolism is essential for proper cell physiology. Here, we describe an early-onset n

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::994f5bedba8a3147a651f53532ee7c82
https://doi.org/10.1038/s41467-020-19919-y

Correction to: Improving reading skills in children with dyslexia: efficacy studies on a newly proposed remedial intervention—repeated reading with vocal music masking (RVM)

Autor: Gilles Leloup, Royce Anders, Valentin Charlet, Béatrice Eula-Fantozzi, Catherine Fossoud, Eddy Cavalli

Publikováno v: Annals of Dyslexia. 71:568-569

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::6220c26e21e0dd47f1fefb97a17a9952
https://doi.org/10.1007/s11881-021-00228-y

Mise au point et recherche de validation d'un outil de repérage des troubles d'apprentissage en classe de CE1

Autor: Agnès Szikora, Léa Sorreau, Bruno Decara, Michel Habib, Marie Claire Hazard, Pierre Taudou, Catherine Fossoud, Danièle Degremont

Publikováno v: Développements. :61-75

A ce jour, il n’existe pas d’outil de mesure valide permettant aux enseignants de classes de CE1 de reperer de maniere collective les enfants susceptibles de developper un trouble specifique des apprentissages. La presente etude vise donc a combl

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::0e5e4642e0a70bc6fdb0298acfe67ff7
https://doi.org/10.3917/devel.016.0061