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

Autor: 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.; Département de Génétique Médicale, AP-HP, Hôpital Necker-Enfants Malades, F-75015, Paris, France., Lefort N; Université de Paris, iPSC Core Facility, Imagine Institute, INSERM UMR 1163, F-75015, Paris, France., Banal C; Université de Paris, iPSC Core Facility, Imagine Institute, INSERM UMR 1163, F-75015, Paris, France., Vasilache-Dangles MT; Département de Neurologie Pédiatrique, AP-HP, Hôpital Necker-Enfants Malades, F-75015, Paris, France., Pitelet G; Service de Neuropédiatrie, CHU Nice, 06200, Nice, France., Lorino E; ESEAN, 44200 Nantes, Service de maladies chroniques de l'enfant, CHU Nantes, 44093, Nantes, France., Rabasse N; Service de pédiatrie, hôpital d'Antibes-Juan-les-Pins, 06600, Antibes-Juan-les-Pins, France., Bieth E; Service de Génétique Médicale, CHU Toulouse, 31059, Toulouse, France., Zaki MS; Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, 12311, Egypt., Topcu M; Department of Child Neurology, Faculty of Medicine, Hacettepe University, Ankara, 06100, Turkey., Sonmez FM; Guven Hospital, Child Neurology Department, Ankara, Turkey.; Department of Child Neurology, Faculty of Medicine, Karadeniz Technical University, Trabzon, 61080, Turkey., Musaev D; Laboratory for Pediatric Brain Diseases, Rady Children's Institute for Genomic Medicine, University of California San Diego, La Jolla, CA, 92093, USA., Stanley V; Laboratory for Pediatric Brain Diseases, Rady Children's Institute for Genomic Medicine, University of California San Diego, La Jolla, CA, 92093, USA., Bole-Feysot C; Université de Paris, Genomics Platform, Imagine Institute, INSERM UMR 1163, F-75015, Paris, France., Nitschké P; Université de Paris, Bioinformatics Core Facility, Imagine Institute, INSERM UMR 1163, F-75015, Paris, France., Munnich A; Université de Paris, Translational Genetics Laboratory, Imagine Institute, INSERM UMR 1163, F-75015, Paris, France., Bahi-Buisson N; Université de Paris, Genetics and Development of the Cerebral Cortex Laboratory, Imagine Institute, INSERM UMR 1163, F-75015, Paris, France., Fossoud C; Centre de Référence des Troubles des Apprentissages, Hôpitaux Pédiatriques de Nice CHU-Lenval, 06200, Nice, France., Giuliano F; Service de Génétique Médicale, Centre Hospitalier Universitaire de Nice, 06202, Nice, France., Colleaux L; Université de Paris, Developmental Brain Disorders Laboratory, Imagine Institute, INSERM UMR 1163, F-75015, Paris, France., Burglen L; Université de Paris, Developmental Brain Disorders Laboratory, Imagine Institute, INSERM UMR 1163, F-75015, Paris, France.; Centre de Référence des Malformations et Maladies Congénitales du Cervelet, Département de Génétique, AP-HP, Sorbonne Université, Hôpital Trousseau, 75012, Paris, France., Gleeson JG; Laboratory for Pediatric Brain Diseases, Rady Children's Institute for Genomic Medicine, University of California San Diego, La Jolla, CA, 92093, USA., Boddaert N; Département de radiologie pédiatrique, INSERM UMR 1163 and INSERM U1000, AP-HP, Hôpital Necker-Enfants Malades, F-75015, Paris, France., Saiardi A; MRC Laboratory for Molecular Cell Biology, University College London, WC1E 6BT, London, UK. a.saiardi@ucl.ac.uk., Cantagrel V; Université de Paris, Developmental Brain Disorders Laboratory, Imagine Institute, INSERM UMR 1163, F-75015, Paris, France. vincent.cantagrel@inserm.fr.

Publikováno v: Nature communications [Nat Commun] 2020 Nov 30; Vol. 11 (1), pp. 6087. Date of Electronic Publication: 2020 Nov 30.