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

Nature and Specificity of Gestural Disorder in Children with Developmental Coordination Disorder: A Multiple Case Study

Autor: Orianne Costini, Arnaud Roy, Chrystelle Remigereau, Sylvane Faure, Catherine Fossoud, Didier Le Gall

Publikováno v: Frontiers in Psychology, Vol 8 (2017)

Aim: Praxis assessment in children with developmental coordination disorder (DCD) is usually based on tests of adult apraxia, by comparing across types of gestures and input modalities. However, the cognitive models of adult praxis processing are rar

Externí odkaz: https://doaj.org/article/32e583a404ce49168d1d49b0ac60028a

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Integrated taxonomy supports the identification of some species of Phytoseiidae (Acari: Mesostigmata) from Georgia

Autor: Philippe Auger, Tea Arabuli, Amandine Fossoud, Martial Douin, Alain Migeon, Marie-Stéphane Tixier, Maria Navajas

Publikováno v: Acrarologia
Acarologia
Acarologia, 2021, 61 (4), pp.824-844. ⟨10.24349/m2Rp-WodG⟩
Acarologia, Acarologia, 2021, 61 (4), pp.824-844. ⟨10.24349/m2Rp-WodG⟩

International audience; The present study reports results of a survey carried out mostly on Citrus sp. and Rubus sp. in Georgia. Morphological and molecular (12S rRNA, COI and CytB mtDNA markers) data were analysed in a framework of integrative taxon

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f7e551690dd12086cd158aceedf23099

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