Nature Communications (Nov 2020)
MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia
- 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
Affiliations
- Ekin Ucuncu
- Université de Paris, Developmental Brain Disorders Laboratory, Imagine Institute, INSERM UMR 1163
- Karthyayani Rajamani
- Université de Paris, Developmental Brain Disorders Laboratory, Imagine Institute, INSERM UMR 1163
- Miranda S. C. Wilson
- MRC Laboratory for Molecular Cell Biology, University College London
- Daniel Medina-Cano
- Université de Paris, Developmental Brain Disorders Laboratory, Imagine Institute, INSERM UMR 1163
- Nami Altin
- Université de Paris, Developmental Brain Disorders Laboratory, Imagine Institute, INSERM UMR 1163
- Pierre David
- Transgenesis Platform, Laboratoire d’Expérimentation Animale et Transgenèse (LEAT), Imagine Institute, Structure Fédérative de Recherche Necker INSERM US24/CNRS UMS3633
- Giulia Barcia
- Université de Paris, Developmental Brain Disorders Laboratory, Imagine Institute, INSERM UMR 1163
- Nathalie Lefort
- Université de Paris, iPSC Core Facility, Imagine Institute, INSERM UMR 1163
- Céline Banal
- Université de Paris, iPSC Core Facility, Imagine Institute, INSERM UMR 1163
- Marie-Thérèse Vasilache-Dangles
- Département de Neurologie Pédiatrique, AP-HP, Hôpital Necker-Enfants Malades
- Gaële Pitelet
- Service de Neuropédiatrie, CHU Nice
- Elsa Lorino
- ESEAN, 44200 Nantes, Service de maladies chroniques de l’enfant, CHU Nantes
- Nathalie Rabasse
- Service de pédiatrie, hôpital d’Antibes-Juan-les-Pins
- Eric Bieth
- Service de Génétique Médicale, CHU Toulouse
- Maha S. Zaki
- Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre
- Meral Topcu
- Department of Child Neurology, Faculty of Medicine, Hacettepe University
- Fatma Mujgan Sonmez
- Guven Hospital, Child Neurology Department
- Damir Musaev
- Laboratory for Pediatric Brain Diseases, Rady Children’s Institute for Genomic Medicine, University of California San Diego
- Valentina Stanley
- Laboratory for Pediatric Brain Diseases, Rady Children’s Institute for Genomic Medicine, University of California San Diego
- Christine Bole-Feysot
- Université de Paris, Genomics Platform, Imagine Institute, INSERM UMR 1163
- Patrick Nitschké
- Université de Paris, Bioinformatics Core Facility, Imagine Institute, INSERM UMR 1163
- Arnold Munnich
- Université de Paris, Translational Genetics Laboratory, Imagine Institute, INSERM UMR 1163
- Nadia Bahi-Buisson
- Université de Paris, Genetics and Development of the Cerebral Cortex Laboratory, Imagine Institute, INSERM UMR 1163
- Catherine Fossoud
- Centre de Référence des Troubles des Apprentissages, Hôpitaux Pédiatriques de Nice CHU-Lenval
- Fabienne Giuliano
- Service de Génétique Médicale, Centre Hospitalier Universitaire de Nice
- Laurence Colleaux
- Université de Paris, Developmental Brain Disorders Laboratory, Imagine Institute, INSERM UMR 1163
- Lydie Burglen
- Université de Paris, Developmental Brain Disorders Laboratory, Imagine Institute, INSERM UMR 1163
- Joseph G. Gleeson
- Laboratory for Pediatric Brain Diseases, Rady Children’s Institute for Genomic Medicine, University of California San Diego
- Nathalie Boddaert
- Département de radiologie pédiatrique, INSERM UMR 1163 and INSERM U1000, AP-HP, Hôpital Necker-Enfants Malades
- Adolfo Saiardi
- MRC Laboratory for Molecular Cell Biology, University College London
- Vincent Cantagrel
- Université de Paris, Developmental Brain Disorders Laboratory, Imagine Institute, INSERM UMR 1163
- DOI
- https://doi.org/10.1038/s41467-020-19919-y
- Journal volume & issue
-
Vol. 11,
no. 1
pp. 1 – 16
Abstract
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 intracellular imbalance of inositol polyphosphate metabolism.
