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

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

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

Affiliation

Ucuncu E; Université de Paris, Developmental Brain Disorders Laboratory, Imagine Institute, INSERM UMR 1163, F-75015, Paris, France.
Rajamani K; Université de Paris, Developmental Brain Disorders Laboratory, Imagine Institute, INSERM UMR 1163, F-75015, Paris, France.
Wilson MSC; MRC Laboratory for Molecular Cell Biology, University College London, WC1E 6BT, London, UK.
Medina-Cano D; Université de Paris, Developmental Brain Disorders Laboratory, Imagine Institute, INSERM UMR 1163, F-75015, Paris, France.
Altin N; Université de Paris, Developmental Brain Disorders Laboratory, Imagine Institute, INSERM UMR 1163, F-75015, Paris, France.
David P; Transgenesis Platform, Laboratoire d'Expérimentation Animale et Transgenèse (LEAT), Imagine Institute, Structure Fédérative de Recherche Necker INSERM US24/CNRS UMS3633, 75015, Paris, France.
Barcia G; Université de Paris, Developmental Brain Disorders Laboratory, Imagine Institute, INSERM UMR 1163, F-75015, Paris, France.
Lefort N; Département de Génétique Médicale, AP-HP, Hôpital Necker-Enfants Malades, F-75015, Paris, France.
Banal C; Université de Paris, iPSC Core Facility, Imagine Institute, INSERM UMR 1163, F-75015, Paris, France.
Vasilache-Dangles MT; Université de Paris, iPSC Core Facility, Imagine Institute, INSERM UMR 1163, F-75015, Paris, France.
Pitelet G; Département de Neurologie Pédiatrique, AP-HP, Hôpital Necker-Enfants Malades, F-75015, Paris, France.
Lorino E; Service de Neuropédiatrie, CHU Nice, 06200, Nice, France.
Rabasse N; ESEAN, 44200 Nantes, Service de maladies chroniques de l'enfant, CHU Nantes, 44093, Nantes, France.
Bieth E; Service de pédiatrie, hôpital d'Antibes-Juan-les-Pins, 06600, Antibes-Juan-les-Pins, France.
Zaki MS; Service de Génétique Médicale, CHU Toulouse, 31059, Toulouse, France.
Topcu M; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, 12311, Egypt.
Sonmez FM; Department of Child Neurology, Faculty of Medicine, Hacettepe University, Ankara, 06100, Turkey.
Musaev D; Guven Hospital, Child Neurology Department, Ankara, Turkey.
Stanley V; Department of Child Neurology, Faculty of Medicine, Karadeniz Technical University, Trabzon, 61080, Turkey.
Bole-Feysot C; Laboratory for Pediatric Brain Diseases, Rady Children's Institute for Genomic Medicine, University of California San Diego, La Jolla, CA, 92093, USA.
Nitschké P; Laboratory for Pediatric Brain Diseases, Rady Children's Institute for Genomic Medicine, University of California San Diego, La Jolla, CA, 92093, USA.
Munnich A; Université de Paris, Genomics Platform, Imagine Institute, INSERM UMR 1163, F-75015, Paris, France.
Bahi-Buisson N; Université de Paris, Bioinformatics Core Facility, Imagine Institute, INSERM UMR 1163, F-75015, Paris, France.
Fossoud C; Université de Paris, Translational Genetics Laboratory, Imagine Institute, INSERM UMR 1163, F-75015, Paris, France.
Giuliano F; Université de Paris, Genetics and Development of the Cerebral Cortex Laboratory, Imagine Institute, INSERM UMR 1163, F-75015, Paris, France.
Colleaux L; Centre de Référence des Troubles des Apprentissages, Hôpitaux Pédiatriques de Nice CHU-Lenval, 06200, Nice, France.
Burglen L; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nice, 06202, Nice, France.
Gleeson JG; Université de Paris, Developmental Brain Disorders Laboratory, Imagine Institute, INSERM UMR 1163, F-75015, Paris, France.
Boddaert N; Université de Paris, Developmental Brain Disorders Laboratory, Imagine Institute, INSERM UMR 1163, F-75015, Paris, France.
Saiardi A; Centre de Référence des Malformations et Maladies Congénitales du Cervelet, Département de Génétique, AP-HP, Sorbonne Université, Hôpital Trousseau, 75012, Paris, France.
Cantagrel V; Laboratory for Pediatric Brain Diseases, Rady Children's Institute for Genomic Medicine, University of California San Diego, La Jolla, CA, 92093, USA.

Nat Commun ; 11(1): 6087, 2020 11 30.

Article de En | MEDLINE | ID: mdl-33257696

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Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Acide phytique / Maladies du cervelet / Chélateurs / Phosphoric monoester hydrolases / Cytoplasme Limites: Animals / Child / Child, preschool / Female / Humans / Infant / Male Langue: En Journal: Nat Commun Sujet du journal: BIOLOGIA / CIENCIA Année: 2020 Type de document: Article Pays d'affiliation: France Pays de publication: Royaume-Uni

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