PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment

Author:

Zollo Massimo123,Ahmed Mustafa4,Ferrucci Veronica123,Salpietro Vincenzo5,Asadzadeh Fatemeh12,Carotenuto Marianeve12,Maroofian Reza4,Al-Amri Ahmed67,Singh Royana8,Scognamiglio Iolanda12,Mojarrad Majid910,Musella Luca12,Duilio Angela11,Di Somma Angela11,Karaca Ender12,Rajab Anna7,Al-Khayat Aisha13,Mohan Mohapatra Tribhuvan8,Eslahi Atieh9,Ashrafzadeh Farah914,Rawlins Lettie E.4,Prasad Rajniti15,Gupta Rashmi8,Kumari Preeti8,Srivastava Mona816,Cozzolino Flora2,Kumar Rai Sunil8,Monti Maria211,Harlalka Gaurav V.4,Simpson Michael A.17,Rich Philip18,Al-Salmi Fatema13,Patton Michael A.41319,Chioza Barry A.4,Efthymiou Stephanie5,Granata Francesca20,Di Rosa Gabriella21,Wiethoff Sarah5,Borgione Eugenia22,Scuderi Carmela22,Mankad Kshitij23,Hanna Michael G.524,Pucci Piero211,Houlden Henry5,Lupski James R.12252627,Crosby Andrew H.4,Baple Emma L.4

Affiliation:

1. Dipartimento di Medicina Molecolare e Biotecnologie Mediche DMMBM, Università di Napoli Federico II, Via Sergio Pansini 5, Naples, 80131, Italy

2. CEINGE Biotecnologie Avanzate, Via Gaetano Salvatore 486, Naples, Italy

3. European School of Molecular Medicine, SEMM, University of Milan, Italy

4. Medical Research (Level 4), RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon & Exeter NHS Foundation Trust, Barrack Road, Exeter, EX2 5DW, UK

5. Department of Molecular Neuroscience, UCL Institute of Neurology, London, UK

6. Section of Ophthalmology and Neuroscience, Leeds Institute of Biomedical and Clinical Sciences, University of Leeds, UK

7. National Genetic Centre, Directorate General of Royal Hospital, Ministry of Health, Muscat, Sultanate of Oman

8. Molecular Genetics, Department of Anatomy, Institute of Medical Sciences, Banaras Hindu University, Varanasi -221005, UP, India

9. Department of Medical Genetics, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran

10. Medical Genetics Research Center, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran

11. Dipartimento di Scienze Chimiche, Università Federico II, Naples, Italy

12. Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA

13. Department of Biology, Sultan Qaboos University, PO Box 36, Post code 123, Sultanate of Oman

14. Department of Pediatric Neurology, Ghaem Medical Center, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Zip Code– 9919991766, Iran

15. Department of Pediatrics, Institute of Medical Sciences, Banaras Hindu University, Varanasi –221005, UP, India

16. Department of Psychiatry, Institute of Medical Sciences, Banaras Hindu University, Varanasi –221005, UP, India

17. Department of Medical and Molecular Genetics, Division of Genetics and Molecular Medicine, King's College London, London, UK

18. Department of Neuroradiology, St. George's Hospital, London, UK

19. Genetics Research Centre, St. George's, University of London, London, SW17 0RE, UK

20. Unit of Neuroradiology, Department of Biomedical Science and Morphological and Functional Images, University of Messina, Messina, Italy

21. Unit of Child Neurology and Psychiatry, Department of Human Pathology of the Adult and Developmental Age, University of Messina, Messina, Italy

22. Unit of Neuromuscular disorders, IRCCS Oasi Maria SS Troina, Enna, Italy

23. Department of Neuroradiology, Great Ormond Street Hospital for Children, London WC1N 3JH, UK

24. MRC Centre for Neuromuscular Diseases, UCL Institute of Neurology, London WC1N 3BG, UK

25. Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA

26. Department of Pediatrics, Baylor College of Medicine, Houston, TX 77030, USA

27. Texas Children's Hospital, Houston, TX 77030, USA

Funder

National Institutes of Health

National Human Genome Research Institute

Wellcome Trust

Medical Research Council

Wellcome Trust strategic

Newlife Foundation for Disabled Children (A.H.C. and E.L.B.) , Associazione per la Ricerca sul Cancro IG: 11963 (AIRC-MZ)

FP7- Tumic

Fondazione Adolfo Volpe e Associazione Pediatri di famiglia (M.Z.), POR Rete delle Biotecnologie in Campania Movie (M.Z.), Regione Campania legge n.5 (M.Z.), Wellcome Trust

US National Human Genome Research Institute/National Heart Lung Blood Institute

Publisher

Oxford University Press (OUP)

Subject

Clinical Neurology

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