ArticleNature communications2020
MINPP1 prevents intracellular accumulation of the chelator inositol hexakisphosphate and is mutated in Pontocerebellar Hypoplasia.
Open access · goldAbstract read
In one paragraph
Article in Nature communications, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 38 papers.
0numbers the graph read from it
0cells of the map it votes in
38citing papers in PubMed
3.1field-weighted citation impact, top 8% of its field
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
38 citing papers in PubMed, 60 citations in OpenAlex.
- Deciphering the genetic basis of developmental language disorder in children without intellectual disability, autism or apraxia of speech.Molecular autism · 2025Trial
- Inositol Thiophosphates as Inhibitors of Mammalian, Plant, and Fungal Phytases.ACS chemical biology · 2026Article
- Prevalence, Genetic Risks, and Cardiovascular Outcomes of Metabolic and Alcohol-Associated Liver Disease in a Longitudinal Multiethnic US Cohort.Gastro hep advances · 2026Review
- Serum proteomics and metabolomics reveal novel noninvasive molecular signatures for hepatocellular carcinoma diagnosis.Frontiers in oncology · 2026Article
- Genetic Insights in Hindbrain Abnormalities Through Network Analysis Expose Key Biological Pathways in Hindbrain Development.Cerebellum (London, England) · 2025Article
- Multiple inositol polyphosphate phosphatase: a hidden phytate digester with bioactive function potential in animal husbandry: review.Animal bioscience · 2025Article
- IPPK-1 and IP6 contribute to ventral nerve cord assembly in C. elegans.Developmental biology · 2025Article
- MINPP1 promotes ferroptosis in HBV-related hepatocellular carcinoma by regulating CTSB K33-linked deubiquitination via ZRANB1.Biology direct · 2025Article
- Insights Into the FOXE3 Transcriptional Network and Disease Mechanisms From the Investigation of a Regulatory Variant Driving Complex Microphthalmia.Investigative ophthalmology & visual science · 2025Article
- Conference Report: Cerebellar Development and Disease at Single-Cell Resolution.Cerebellum (London, England) · 2025Article
- Biallelic Loss-of-Function Variant inInternational journal of molecular sciences · 2025Article
- Article
- Pontocerebellar hypoplasia: a review from 1912 to 2022.Brain communications · 2025Review
- Genomic and ancestral variations linked to the development of post-acute sequelae of SARS-CoV-2 infection in Indian populations.Frontiers in genetics · 2025Article
- Congenital microcoria deletion in mouse links Sox21 dysregulation to disease and suggests a role for TGFB2 in glaucoma and myopia.American journal of human genetics · 2024Article
- Evaluation of the Patients with the Diagnosis of Pontocerebellar Hypoplasia: A Multicenter National Study.Cerebellum (London, England) · 2024Article
- HeterozygousGenes & development · 2024Article
- Inositol Hexaphosphate in Bone Health and Disease.Biomolecules · 2024Review
- IER3IP1-mutations cause microcephaly by selective inhibition of ER-Golgi transport.Cellular and molecular life sciences : CMLS · 2024Article
- Evaluation of secretome biomarkers in glioblastoma cancer stem cells: A bioinformatics analysis.Cancer reports (Hoboken, N.J.) · 2024Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
31 authors at 11 institutions in 5 countries.
Ekin UcuncuUniversité de Paris, Developmental Brain Disorders Laboratory, Imagine Institute, INSERM UMR 1163, F-75015, Paris, France.
Karthyayani RajamaniUniversité de Paris, Developmental Brain Disorders Laboratory, Imagine Institute, INSERM UMR 1163, F-75015, Paris, France.
Miranda S C WilsonMRC Laboratory for Molecular Cell Biology, University College London, WC1E 6BT, London, UK.
Daniel Medina-CanoUniversité de Paris, Developmental Brain Disorders Laboratory, Imagine Institute, INSERM UMR 1163, F-75015, Paris, France.ORCID 0000-0003-4545-7664
Nami AltinUniversité de Paris, Developmental Brain Disorders Laboratory, Imagine Institute, INSERM UMR 1163, F-75015, Paris, France.
Pierre DavidTransgenesis Platform, Laboratoire d'Expérimentation Animale et Transgenèse (LEAT), Imagine Institute, Structure Fédérative de Recherche Necker INSERM US24/CNRS UMS3633, 75015, Paris, France.
Giulia BarciaUniversité de Paris, Developmental Brain Disorders Laboratory, Imagine Institute, INSERM UMR 1163, F-75015, Paris, France.
Nathalie LefortUniversité de Paris, iPSC Core Facility, Imagine Institute, INSERM UMR 1163, F-75015, Paris, France.
Céline BanalUniversité de Paris, iPSC Core Facility, Imagine Institute, INSERM UMR 1163, F-75015, Paris, France.
Marie-Thérèse Vasilache-DanglesDépartement de Neurologie Pédiatrique, AP-HP, Hôpital Necker-Enfants Malades, F-75015, Paris, France.
Gaële PiteletService de Neuropédiatrie, CHU Nice, 06200, Nice, France.
Elsa LorinoESEAN, 44200 Nantes, Service de maladies chroniques de l'enfant, CHU Nantes, 44093, Nantes, France.
Nathalie RabasseService de pédiatrie, hôpital d'Antibes-Juan-les-Pins, 06600, Antibes-Juan-les-Pins, France.
Eric BiethService de Génétique Médicale, CHU Toulouse, 31059, Toulouse, France.
Maha S ZakiClinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Cairo, 12311, Egypt.ORCID 0000-0001-7840-0002
Meral TopcuDepartment of Child Neurology, Faculty of Medicine, Hacettepe University, Ankara, 06100, Turkey.
Fatma Mujgan SonmezGuven Hospital, Child Neurology Department, Ankara, Turkey.
Damir MusaevLaboratory for Pediatric Brain Diseases, Rady Children's Institute for Genomic Medicine, University of California San Diego, La Jolla, CA, 92093, USA.
Valentina StanleyLaboratory for Pediatric Brain Diseases, Rady Children's Institute for Genomic Medicine, University of California San Diego, La Jolla, CA, 92093, USA.
Christine Bole-FeysotUniversité de Paris, Genomics Platform, Imagine Institute, INSERM UMR 1163, F-75015, Paris, France.
Patrick NitschkéUniversité de Paris, Bioinformatics Core Facility, Imagine Institute, INSERM UMR 1163, F-75015, Paris, France.ORCID 0000-0002-2094-3298
Arnold MunnichUniversité de Paris, Translational Genetics Laboratory, Imagine Institute, INSERM UMR 1163, F-75015, Paris, France.
Nadia Bahi-BuissonUniversité de Paris, Genetics and Development of the Cerebral Cortex Laboratory, Imagine Institute, INSERM UMR 1163, F-75015, Paris, France.
Catherine FossoudCentre de Référence des Troubles des Apprentissages, Hôpitaux Pédiatriques de Nice CHU-Lenval, 06200, Nice, France.
Fabienne GiulianoService de Génétique Médicale, Centre Hospitalier Universitaire de Nice, 06202, Nice, France.
Laurence ColleauxUniversité de Paris, Developmental Brain Disorders Laboratory, Imagine Institute, INSERM UMR 1163, F-75015, Paris, France.
Lydie BurglenUniversité de Paris, Developmental Brain Disorders Laboratory, Imagine Institute, INSERM UMR 1163, F-75015, Paris, France.ORCID 0000-0002-1119-6809
Joseph G GleesonLaboratory for Pediatric Brain Diseases, Rady Children's Institute for Genomic Medicine, University of California San Diego, La Jolla, CA, 92093, USA.ORCID 0000-0002-0889-9220
Nathalie BoddaertDépartement de radiologie pédiatrique, INSERM UMR 1163 and INSERM U1000, AP-HP, Hôpital Necker-Enfants Malades, F-75015, Paris, France.
Adolfo SaiardiMRC Laboratory for Molecular Cell Biology, University College London, WC1E 6BT, London, UK. a.saiardi@ucl.ac.uk.ORCID 0000-0002-4351-0081
Vincent CantagrelUniversité de Paris, Developmental Brain Disorders Laboratory, Imagine Institute, INSERM UMR 1163, F-75015, Paris, France. vincent.cantagrel@inserm.fr.ORCID 0000-0002-5180-4848
Inserm · FRChildren’s Institute · USHôpital Necker-Enfants Malades · FRCentre Hospitalier Universitaire de Nice · FRMRC Laboratory for Molecular Cell Biology · GBCentre Hospitalier Universitaire de Toulouse · FRCentre National de la Recherche Scientifique · FRFondation Lenval · FRHacettepe University · TRKaradeniz Technical University · TRNational Research Centre · EG
Funding
Medical Research Council MR/T028904/1
Abstract
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 neurodegenerative syndrome caused by loss-of-function mutations in the multiple inositol-polyphosphate phosphatase 1 gene (MINPP1). Patients are found to have a distinct type of Pontocerebellar Hypoplasia with typical basal ganglia involvement on neuroimaging. We find that patient-derived and genome edited MINPP1
Indexed as
AnimalsCell DeathCell DifferentiationCerebellar DiseasesChelating AgentsChildChild, PreschoolCytoplasmFemaleGene Knockout TechniquesHEK293 CellsHomeostasisHumansInfantMaleMice, Inbred C57BLChelating Agentsmultiple inositol-polyphosphate phosphatasePhosphoric Monoester HydrolasesPhytic Acid
Identifiers
What Socratic holds
Textmetadata
LicenceCC BY
Read underepoch 390
Registered trials
None linked
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.