ArticleBrain : a journal of neurology2017
PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment.
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Article in Brain : a journal of neurology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
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28 citing papers in PubMed, 73 citations in OpenAlex.
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- BioID2-Based Tau Interactome Reveals Novel and Known Protein Interactions Associated with Multiple Cellular Pathways.Journal of proteome research · 2025Article
- Very rare Palestinian case report of PRUNE1 p.Asp106Asn mutation: a mutation of global developmental delay.Annals of medicine and surgery (2012) · 2025Article
- Oviductal extracellular matrix hydrogels enhance in vitro culture of rabbit embryos and reduce deficiencies during assisted reproductive technologies.Scientific reports · 2024Article
- PRUNE1 and NME/NDPK family proteins influence energy metabolism and signaling in cancer metastases.Cancer metastasis reviews · 2024Review
- Targeting Group 3 Medulloblastoma by the Anti-PRUNE-1 and Anti-LSD1/KDM1A Epigenetic Molecules.International journal of molecular sciences · 2024Article
- The impact of the Turkish population variome on the genomic architecture of rare disease traits.Genetics in medicine open · 2024Article
- Allelic heterogeneity and abnormal vesicle recycling inFrontiers in molecular neuroscience · 2024Article
- Microcephaly, Short Stature, Intellectual Disability, Speech Absence and Cataract Are Associated with Novel Bi-Allelic Missense Variant inChildren (Basel, Switzerland) · 2023Article
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- Neuroimaging in PRUNE1 syndrome: a mini-review of the literature.Frontiers in neurology · 2023Review
- PRUNE1 c.933G>A synonymous variant induces exon 7 skipping, disrupts the DHHA2 domain, and leads to an atypical NMIHBA syndrome presentation: Case report and review of the literature.American journal of medical genetics. Part A · 2022Review
- Neurodevelopmental disorder with microcephaly, hypotonia, and variable brain anomalies in a consanguineous Iranian family is associated with a homozygous start loss variant in the PRUNE1 gene.BMC medical genomics · 2022Article
- Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency.Genetics in medicine : official journal of the American College of Medical Genetics · 2022Article
- High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population.American journal of human genetics · 2021Article
- Prominent and Regressive Brain Developmental Disorders Associated with Nance-Horan Syndrome.Brain sciences · 2021Article
- Biallelic Variants inInternational journal of molecular sciences · 2021Article
- NMIHBA results from hypomorphic PRUNE1 variants that lack short-chain exopolyphosphatase activity.Human molecular genetics · 2021Article
- Functional Genomics of PRUNE1 in Neurodevelopmental Disorders (NDDs) Tied to Medulloblastoma (MB) and Other Tumors.Frontiers in oncology · 2021Review
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Authors and funding
47 authors at 20 institutions in 6 countries.
Massimo ZolloDipartimento di Medicina Molecolare e Biotecnologie Mediche DMMBM, Università di Napoli Federico II, Via Sergio Pansini 5, Naples, 80131, Italy.
Mustafa AhmedMedical Research (Level 4), RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon & Exeter NHS Foundation Trust, Barrack Road, Exeter, EX2 5DW, UK.
Veronica FerrucciDipartimento di Medicina Molecolare e Biotecnologie Mediche DMMBM, Università di Napoli Federico II, Via Sergio Pansini 5, Naples, 80131, Italy.
Vincenzo SalpietroDepartment of Molecular Neuroscience, UCL Institute of Neurology, London, UK.
Fatemeh AsadzadehDipartimento di Medicina Molecolare e Biotecnologie Mediche DMMBM, Università di Napoli Federico II, Via Sergio Pansini 5, Naples, 80131, Italy.
Marianeve CarotenutoDipartimento di Medicina Molecolare e Biotecnologie Mediche DMMBM, Università di Napoli Federico II, Via Sergio Pansini 5, Naples, 80131, Italy.
Reza MaroofianMedical Research (Level 4), RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon & Exeter NHS Foundation Trust, Barrack Road, Exeter, EX2 5DW, UK.
Ahmed Al-AmriSection of Ophthalmology and Neuroscience, Leeds Institute of Biomedical and Clinical Sciences, University of Leeds, UK.
Royana SinghMolecular Genetics, Department of Anatomy, Institute of Medical Sciences, Banaras Hindu University, Varanasi -221005, UP, India.
Iolanda ScognamiglioDipartimento di Medicina Molecolare e Biotecnologie Mediche DMMBM, Università di Napoli Federico II, Via Sergio Pansini 5, Naples, 80131, Italy.
Majid MojarradDepartment of Medical Genetics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
Luca MusellaDipartimento di Medicina Molecolare e Biotecnologie Mediche DMMBM, Università di Napoli Federico II, Via Sergio Pansini 5, Naples, 80131, Italy.
Angela DuilioDipartimento di Scienze Chimiche, Università Federico II, Naples, Italy.
Angela Di SommaDipartimento di Scienze Chimiche, Università Federico II, Naples, Italy.
Ender KaracaDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Anna RajabNational Genetic Centre, Directorate General of Royal Hospital, Ministry of Health, Muscat, Sultanate of Oman.
Aisha Al-KhayatDepartment of Biology, Sultan Qaboos University, PO Box 36, Post code 123, Sultanate of Oman.
Tribhuvan Mohan MohapatraMolecular Genetics, Department of Anatomy, Institute of Medical Sciences, Banaras Hindu University, Varanasi -221005, UP, India.
Atieh EslahiDepartment of Medical Genetics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
Farah AshrafzadehDepartment of Medical Genetics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
Lettie E RawlinsMedical Research (Level 4), RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon & Exeter NHS Foundation Trust, Barrack Road, Exeter, EX2 5DW, UK.
Rajniti PrasadDepartment of Pediatrics, Institute of Medical Sciences, Banaras Hindu University, Varanasi -221005, UP, India.
Rashmi GuptaMolecular Genetics, Department of Anatomy, Institute of Medical Sciences, Banaras Hindu University, Varanasi -221005, UP, India.
Preeti KumariMolecular Genetics, Department of Anatomy, Institute of Medical Sciences, Banaras Hindu University, Varanasi -221005, UP, India.
Mona SrivastavaMolecular Genetics, Department of Anatomy, Institute of Medical Sciences, Banaras Hindu University, Varanasi -221005, UP, India.
Flora CozzolinoCEINGE Biotecnologie Avanzate, Via Gaetano Salvatore 486, Naples, Italy.
Sunil Kumar RaiMolecular Genetics, Department of Anatomy, Institute of Medical Sciences, Banaras Hindu University, Varanasi -221005, UP, India.
Maria MontiCEINGE Biotecnologie Avanzate, Via Gaetano Salvatore 486, Naples, Italy.
Gaurav V HarlalkaMedical Research (Level 4), RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon & Exeter NHS Foundation Trust, Barrack Road, Exeter, EX2 5DW, UK.
Michael A SimpsonDepartment of Medical and Molecular Genetics, Division of Genetics and Molecular Medicine, King's College London, London, UK.
Philip RichDepartment of Neuroradiology, St. George's Hospital, London, UK.
Fatema Al-SalmiDepartment of Biology, Sultan Qaboos University, PO Box 36, Post code 123, Sultanate of Oman.
Michael A PattonMedical Research (Level 4), RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon & Exeter NHS Foundation Trust, Barrack Road, Exeter, EX2 5DW, UK.
Barry A ChiozaMedical Research (Level 4), RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon & Exeter NHS Foundation Trust, Barrack Road, Exeter, EX2 5DW, UK.
Stephanie EfthymiouDepartment of Molecular Neuroscience, UCL Institute of Neurology, London, UK.
Francesca GranataUnit of Neuroradiology, Department of Biomedical Science and Morphological and Functional Images, University of Messina, Messina, Italy.
Gabriella Di RosaUnit of Child Neurology and Psychiatry, Department of Human Pathology of the Adult and Developmental Age, University of Messina, Messina, Italy.
Sarah WiethoffDepartment of Molecular Neuroscience, UCL Institute of Neurology, London, UK.
Eugenia BorgioneUnit of Neuromuscular disorders, IRCCS Oasi Maria SS Troina, Enna, Italy.
Carmela ScuderiUnit of Neuromuscular disorders, IRCCS Oasi Maria SS Troina, Enna, Italy.
Kshitij MankadDepartment of Neuroradiology, Great Ormond Street Hospital for Children, London WC1N 3JH, UK.
Michael G HannaDepartment of Molecular Neuroscience, UCL Institute of Neurology, London, UK.
Piero PucciCEINGE Biotecnologie Avanzate, Via Gaetano Salvatore 486, Naples, Italy.
Henry HouldenDepartment of Molecular Neuroscience, UCL Institute of Neurology, London, UK.
James R LupskiDepartment of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.
Andrew H CrosbyMedical Research (Level 4), RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon & Exeter NHS Foundation Trust, Barrack Road, Exeter, EX2 5DW, UK.
Emma L BapleMedical Research (Level 4), RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon & Exeter NHS Foundation Trust, Barrack Road, Exeter, EX2 5DW, UK.
Ceinge Biotecnologie Avanzate (Italy) · ITUniversity College London · GBInstitute of Medical Sciences · INRoyal Devon & Exeter NHS Foundation Trust · GBUniversity of Exeter · GBBanaras Hindu University · INMashhad University of Medical Sciences · IRUniversity of Naples Federico II · ITSultan Qaboos University · OMUniversity of Messina · ITBaylor College of Medicine · USGreat Ormond Street Hospital · GBI.R.C.C.S. Oasi Maria SS · ITKing's College London · GBOasi Maria SS · ITRoyal Hospital · OMSt George's Hospital · GBTexas Children's Hospital · USUniversity of Leeds · GBUniversity of Milan · IT
Funding
Baylor-Johns Hopkins Center for Mendelian GeneticsU54HG006542 · NHGRI · JOHNS HOPKINS UNIVERSITY · PI VALLE, DAVID · 2012 to 2015
$15.6MBaylor-Johns Hopkins Center for Mendelian GeneticsUM1HG006542 · NHGRI · JOHNS HOPKINS UNIVERSITY · PI VALLE, DAVID · 2016 to 2020
$14.5MMedical Research Council G0802760Medical Research Council G1001253Medical Research Council G1001931Medical Research Council G1002279Medical Research Council G108/638Medical Research Council MR/J004758/1Medical Research Council MR/K000608/1NHGRI NIH HHS U54 HG006542NHGRI NIH HHS UM1 HG006542Wellcome Trust
Abstract
PRUNE is a member of the DHH (Asp-His-His) phosphoesterase protein superfamily of molecules important for cell motility, and implicated in cancer progression. Here we investigated multiple families from Oman, India, Iran and Italy with individuals affected by a new autosomal recessive neurodevelopmental and degenerative disorder in which the cardinal features include primary microcephaly and profound global developmental delay. Our genetic studies identified biallelic mutations of PRUNE1 as responsible. Our functional assays of disease-associated variant alleles revealed impaired microtubule polymerization, as well as cell migration and proliferation properties, of mutant PRUNE. Additionally, our studies also highlight a potential new role for PRUNE during microtubule polymerization, which is essential for the cytoskeletal rearrangements that occur during cellular division and proliferation. Together these studies define PRUNE as a molecule fundamental for normal human cortical development and define cellular and clinical consequences associated with PRUNE mutation.
Indexed as
AdolescentBrainCarrier ProteinsCell DifferentiationCell MovementCerebral CortexChildChild, PreschoolCytoskeletonDevelopmental DisabilitiesFemaleGenes, RecessiveHeredodegenerative Disorders, Nervous SystemHumansInfantMaleCarrier ProteinsPhosphoric Monoester HydrolasesPRUNE1 protein, humandevelopmental delaymicrocephalymicrotubule polymerization, tubulinopathynormal brain developmentPRUNE1
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