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

GATAD2B loss-of-function mutations cause a recognisable syndrome with intellectual disability and are associated with learning deficits and synaptic undergrowth in Drosophila

Autor: Han G. Brunner, Bertrand Isidor, Bert B.A. de Vries, Joep de Ligt, Ernie M.H.F. Bongers, Bonnie Nijhof, Marjolein H. Willemsen, Lenke Asztalos, Anna Castells-Nobau, Joris A. Veltman, Erika Viragh, Bregje W.M. van Bon, Tjitske Kleefstra, Helger G. Yntema, Lisenka E.L.M. Vissers, Michaela Fenckova, Elsa Lorino, Hans van Bokhoven, Annette Schenck, Zoltan Asztalos, Emre Tezel, David A. Koolen, Cédric Le Caignec, Willy M. Nillesen

Publikováno v: Journal of Medical Genetics, 50, 507-14
Journal of Medical Genetics, 50, 8, pp. 507-14

Contains fulltext : 124865.pdf (Publisher’s version ) (Open Access) BACKGROUND: GATA zinc finger domain containing 2B (GATAD2B) encodes a subunit of the MeCP1-Mi-2/nucleosome remodelling and deacetylase complex involved in chromatin modification an

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a93051e969dc12d65297d1317040adea
https://pubmed.ncbi.nlm.nih.gov/23644463