换一批Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications.
第一作者：
Viorica,Chelban
第一单位：
Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK. v.chelban@ucl.ac.uk.;Neurobiology and Medical Genetics Laboratory, "Nicolae Testemitanu" State University of Medicine and Pharmacy, 165, Stefan cel Mare si Sfant Boulevard, MD, 2004, Chisinau, Republic of Moldova. v.chelban@ucl.ac.uk.
作者：
Viorica,Chelban [1]
;
Henriette,Aksnes [2]
;
Reza,Maroofian [3]
;
Lauren C,LaMonica [4]
;
Luis,Seabra [5]
;
Anette,Siggervåg [6]
;
Perrine,Devic [7]
;
Hanan E,Shamseldin [8]
;
Jana,Vandrovcova [3]
;
David,Murphy [9]
;
Anne-Claire,Richard [10]
;
Olivier,Quenez [10]
;
Antoine,Bonnevalle [10]
;
M Natalia,Zanetti [11]
;
Rauan,Kaiyrzhanov [12]
;
Vincenzo,Salpietro [3]
;
Stephanie,Efthymiou [3]
;
Lucia V,Schottlaender [13]
;
Heba,Morsy [14]
;
Annarita,Scardamaglia [3]
;
Ambreen,Tariq [3]
;
Alistair T,Pagnamenta [15]
;
Ajia,Pennavaria [6]
;
Liv S,Krogstad [6]
;
Åse K,Bekkelund [6]
;
Alessia,Caiella [6]
;
Nina,Glomnes [16]
;
Kirsten M,Brønstad [6]
;
Sandrine,Tury [17]
;
Andrés,Moreno De Luca [18]
;
Anne,Boland-Auge [19]
;
Robert,Olaso [19]
;
Jean-François,Deleuze [19]
;
Mathieu,Anheim [20]
;
Benjamin,Cretin [20]
;
Barbara,Vona [21]
;
Fahad,Alajlan [22]
;
Firdous,Abdulwahab [8]
;
Jean-Luc,Battini [17]
;
Rojan,İpek [23]
;
Peter,Bauer [24]
;
Giovanni,Zifarelli [24]
;
Serdal,Gungor [25]
;
Semra Hiz,Kurul [26]
;
Hanns,Lochmuller [27]
;
Sahar I,Da'as [28]
;
Khalid A,Fakhro [29]
;
Alicia,Gómez-Pascual [30]
;
Juan A,Botía [30]
;
Nicholas W,Wood [31]
;
Rita,Horvath [32]
;
Andreas M,Ernst [33]
;
James E,Rothman [34]
;
Meriel,McEntagart [35]
;
Yanick J,Crow [36]
;
Fowzan S,Alkuraya [37]
;
Gaël,Nicolas [10]
;
SYNaPS Study Group [38]
;
Thomas,Arnesen [39]
;
Henry,Houlden
作者单位：
Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK. v.chelban@ucl.ac.uk.;Neurobiology and Medical Genetics Laboratory, "Nicolae Testemitanu" State University of Medicine and Pharmacy, 165, Stefan cel Mare si Sfant Boulevard, MD, 2004, Chisinau, Republic of Moldova. v.chelban@ucl.ac.uk.
[1]
Department of Biomedicine, University of Bergen, Bergen, Norway. henriette.aksnes@uib.no.
[2]
Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.
[3]
Department of Cell Biology, Yale School of Medicine, New Haven, CT, USA.
[4]
Université Paris Cité, Imagine Institute, Laboratory of Neurogenetics and Neuroinflammation, INSERM UMR 1163, Paris, France.
[5]
Department of Biomedicine, University of Bergen, Bergen, Norway.
[6]
Hospices Civils de Lyon, Groupement Hospitalier Sud, Service d'Explorations Fonctionnelles Neurologiques, Lyon, France.
[7]
Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
[8]
Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.
[9]
Univ Rouen Normandie, Inserm U1245, CHU Rouen, Department of Genetics and CNRMAJ, F-76000, Rouen, France.
[10]
Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.
[11]
Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.;South Kazakhstan Medical Academy Shymkent, Shymkent, 160019, Kazakhstan.
[12]
Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.;Instituto de Investigaciones en Medicina Traslacional (IIMT), CONICET-Universidad Austral, Av. Juan Domingo Perón 1500, B1629AHJ, Pilar, Argentina.;Instituto de medicina genómica (IMeG), Hospital Universitario Austral, Universidad Austral, Av. Juan Domingo Perón 1500, B1629AHJ, Pilar, Argentina.
[13]
Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.;Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt.
[14]
Oxford NIHR Biomedical Research Centre, Wellcome Centre for Human Genetics, Oxford, United Kingdom.
[15]
Department of Biomedicine, University of Bergen, Bergen, Norway.;Department of Clinical Science, University of Bergen, 5020, Bergen, Norway.
[16]
Institut de Recherche en Infectiologie de Montpellier, Université de Montpellier, CNRS, Montpellier, France.
[17]
Department of Radiology, Autism & Developmental Medicine Institute, Geisinger, Lewisburg, PA, USA.;Department of Radiology, Neuroradiology Section, Kingston Health Sciences Centre, Queen's University Faculty of Health Sciences, Kingston, Ontario, Canada.
[18]
Université Paris-Saclay, CEA, Centre National de Recherche en Génomique Humaine (CNRGH), 91057, Evry, France.
[19]
Neurology Department, Strasbourg University Hospital, Strasbourg, France.;Strasbourg Federation of Translational Medicine (FMTS), Strasbourg University, Strasbourg, France.;INSERM-U964; CNRS-UMR7104, University of Strasbourg, Illkirch-Graffenstaden, France.
[20]
Institute of Human Genetics, University Medical Center Göttingen, 37073, Göttingen, Germany.;Institute for Auditory Neuroscience and InnerEarLab, University Medical Center Göttingen, 37075, Göttingen, Germany.
[21]
Department of Neuroscience Center, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
[22]
Paediatric Neurology, Faculty of Medicine, Dicle University, Diyarbakır, Turkey.
[23]
Centogene GmbH, Am Strande 7, 18055, Rostock, Germany.
[24]
Inonu University, Faculty of Medicine, Turgut Ozal Research Center, Department of Pediatrics, Division of Pediatric Neurology, Malatya, Turkey.
[25]
Dokuz Eylul University, School of Medicine, Department of Paediatric Neurology, Izmir, Turkey.
[26]
Children's Hospital of Eastern Ontario Research Institute and Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, Canada.;Brain and Mind Research Institute, University of Ottawa, Ottawa, Canada.;Department of Neuropediatrics and Muscle Disorders, Medical Center-University of Freiburg, Faculty of Medicine, Freiburg, Germany.
[27]
Department of Human Genetics, Sidra Medicine, Doha, Qatar.;College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar.
[28]
Department of Human Genetics, Sidra Medicine, Doha, Qatar.;College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar.;Weill Cornell Medical College, Doha, Qatar.
[29]
Department of Information and Communications Engineering, University of Murcia, Campus Espinardo, 30100, Murcia, Spain.
[30]
Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.;Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery, London, WC1N 3BG, UK.
[31]
Department of Clinical Neurosciences, University of Cambridge, Cambridge, UK.
[32]
Department of Cell Biology, Yale School of Medicine, New Haven, CT, USA.;School of Biological Sciences, Department of Cell and Developmental Biology, University of California San Diego, La Jolla, CA, USA.
[33]
Department of Cell Biology, Yale School of Medicine, New Haven, CT, USA.;Department of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.
[34]
Medical Genetics Department, St George's University Hospitals, London, SWI7 0RE, UK.
[35]
Université Paris Cité, Imagine Institute, Laboratory of Neurogenetics and Neuroinflammation, INSERM UMR 1163, Paris, France.;MRC Human Genetics Unit, Institute of Genetics and Cancer, University of Edinburgh, Edinburgh, UK.
[36]
Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.;Department of Anatomy and Cell Biology, College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
[37]
Department of Biomedicine, University of Bergen, Bergen, Norway. thomas.arnesen@uib.no.;Department of Surgery, Haukeland University Hospital, Bergen, Norway. thomas.arnesen@uib.no.
[38]
Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK. h.houlden@ucl.ac.uk.;Neurogenetics Laboratory, The National Hospital for Neurology and Neurosurgery, London, WC1N 3BG, UK. h.houlden@ucl.ac.uk.
[39]
医学主题词
人类(Humans);乙酰化作用(Acetylation);脑(Brain);脑疾病(Brain Diseases);遗传方式(Inheritance Patterns);突变(Mutation);磷酸盐类(Phosphates);钠-磷协同转运蛋白质类, Ⅲ型(Sodium-Phosphate Cotransporter Proteins, Type III)
DOI
10.1038/s41467-024-46354-0
PMID
38480682
发布时间
2025-05-30
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Nature communications
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