ArticleNature communications2024
Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications.
Open access · goldAbstract read
In one paragraph
Article in Nature communications, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers, 1 of them a synthesis that pooled it.
0numbers the graph read from it
0cells of the map it votes in
20citing papers in PubMed, 1 pooled it
11.9field-weighted citation impact, top 1% 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
20 citing papers in PubMed, 1 synthesis or guideline pooled it, 42 citations in OpenAlex.
- Gene Variants Related to Primary Familial Brain Calcification: Perspectives from Bibliometrics and Meta-Analysis.eNeuro · 2025Pooled it
- Research progress on lysine acetylation (Review).International journal of molecular medicine · 2026Review
- Brain calcification-associated JAM2 pathogenic mutations impair JAM2-JAM3 tight junction structure and the blood-brain barrier integrity.Brain pathology (Zurich, Switzerland) · 2026Article
- White Matter Matters: A Magnetic Resonance Imaging Study with Clinical Correlates in Primary Brain Calcification.Movement disorders : official journal of the Movement Disorder Society · 2026Article
- CT-based Volume Measurement of Brain Calcification Is Related to Clinical Symptoms and Disease Progression in Primary Familial Brain Calcification.Clinical neuroradiology · 2026Article
- A Novel Frameshift Mutation inBiomedicines · 2026Article
- A novel SLC20A2 nonsense variant and mechanistic studies of primary brain calcification.PloS one · 2026Article
- Experimental Primary Brain Calcification Model and Its Application to Pathogenesis Mechanism Analysis and Therapeutic Research.Neurology international · 2025Review
- RRP12 Variants Are Associated With Autosomal Recessive Brain Calcifications.Movement disorders : official journal of the Movement Disorder Society · 2025Article
- NAA60 facilitates LRRC8A- and LRRC8D-mediated platinum drug uptake.Communications biology · 2025Article
- Understanding brain calcification via N-terminal acetylation at the Golgi apparatus.Brain : a journal of neurology · 2025Review
- Generation of a new Slc20a2 knockout mouse line as in vivo model for primary brain calcification.Molecular brain · 2025Article
- A Fragile Phosphate/Pyrophosphate Balance: From Essential Mineralization to Rare Calcifying Diseases.Current osteoporosis reports · 2025Review
- Mutation spectrum and clinical features of MYORG in Iranian patients with Primary Familial Brain Calcification (PFBC).Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2025Article
- Computational molecular characterization of a novel SLC20A2 variant associated with primary familial brain calcification.Scientific reports · 2025Article
- Skin calcium deposits in primary familial brain calcification: A novel potential biomarker.Annals of clinical and translational neurology · 2025Article
- Proximal partners of the organellar N-terminal acetyltransferase NAA60: insights into Golgi structure and transmembrane protein topology.Open biology · 2025Article
- Illuminating the impact of N-terminal acetylation: from protein to physiology.Nature communications · 2025Review
- Astrocytes in Primary Familial Brain Calcification (PFBC): Emphasis on the Importance of Induced Pluripotent Stem Cell-Derived Human Astrocyte Models.Advances in experimental medicine and biology · 2025Review
- Non-Motor Symptoms in Primary Familial Brain Calcification.Journal of clinical medicine · 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
60 authors at 20 institutions in 14 countries.
Viorica Chelban *Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK. v.chelban@ucl.ac.uk.ORCID 0000-0002-5817-6290
Henriette Aksnes *Department of Biomedicine, University of Bergen, Bergen, Norway. henriette.aksnes@uib.no.ORCID 0000-0003-4968-2324
Reza MaroofianDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.ORCID 0000-0001-6763-1542
Lauren C LaMonicaDepartment of Cell Biology, Yale School of Medicine, New Haven, CT, USA.ORCID 0000-0003-3625-4566
Luis SeabraUniversité Paris Cité, Imagine Institute, Laboratory of Neurogenetics and Neuroinflammation, INSERM UMR 1163, Paris, France.ORCID 0000-0002-4678-3026
Anette SiggervågDepartment of Biomedicine, University of Bergen, Bergen, Norway.
Perrine DevicHospices Civils de Lyon, Groupement Hospitalier Sud, Service d'Explorations Fonctionnelles Neurologiques, Lyon, France.
Hanan E ShamseldinDepartment of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Jana VandrovcovaDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.
David MurphyDepartment of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.
Anne-Claire RichardUniv Rouen Normandie, Inserm U1245, CHU Rouen, Department of Genetics and CNRMAJ, F-76000, Rouen, France.
Olivier QuenezUniv Rouen Normandie, Inserm U1245, CHU Rouen, Department of Genetics and CNRMAJ, F-76000, Rouen, France.ORCID 0000-0002-8273-8505
Antoine BonnevalleUniv Rouen Normandie, Inserm U1245, CHU Rouen, Department of Genetics and CNRMAJ, F-76000, Rouen, France.
M Natalia ZanettiDepartment of Clinical and Experimental Epilepsy, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.
Rauan KaiyrzhanovDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.
Vincenzo SalpietroDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.ORCID 0000-0003-0132-7921
Stephanie EfthymiouDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.ORCID 0000-0003-4900-9877
Lucia V SchottlaenderDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.
Heba MorsyDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.ORCID 0000-0002-9047-0959
Annarita ScardamagliaDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.
Ambreen TariqDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.
Alistair T PagnamentaOxford NIHR Biomedical Research Centre, Wellcome Centre for Human Genetics, Oxford, United Kingdom.ORCID 0000-0001-7334-0602
Ajia PennavariaDepartment of Biomedicine, University of Bergen, Bergen, Norway.
Liv S KrogstadDepartment of Biomedicine, University of Bergen, Bergen, Norway.ORCID 0000-0002-5312-6526
Åse K BekkelundDepartment of Biomedicine, University of Bergen, Bergen, Norway.
Alessia CaiellaDepartment of Biomedicine, University of Bergen, Bergen, Norway.
Nina GlomnesDepartment of Biomedicine, University of Bergen, Bergen, Norway.
Kirsten M BrønstadDepartment of Biomedicine, University of Bergen, Bergen, Norway.
Sandrine TuryInstitut de Recherche en Infectiologie de Montpellier, Université de Montpellier, CNRS, Montpellier, France.
Andrés Moreno De LucaDepartment of Radiology, Autism & Developmental Medicine Institute, Geisinger, Lewisburg, PA, USA.ORCID 0000-0002-2732-4043
Anne Boland-AugeUniversité Paris-Saclay, CEA, Centre National de Recherche en Génomique Humaine (CNRGH), 91057, Evry, France.ORCID 0000-0001-8789-5676
Robert OlasoUniversité Paris-Saclay, CEA, Centre National de Recherche en Génomique Humaine (CNRGH), 91057, Evry, France.
Jean-François DeleuzeUniversité Paris-Saclay, CEA, Centre National de Recherche en Génomique Humaine (CNRGH), 91057, Evry, France.ORCID 0000-0002-5358-4463
Mathieu AnheimNeurology Department, Strasbourg University Hospital, Strasbourg, France.
Benjamin CretinNeurology Department, Strasbourg University Hospital, Strasbourg, France.
Barbara VonaInstitute of Human Genetics, University Medical Center Göttingen, 37073, Göttingen, Germany.ORCID 0000-0002-6719-3447
Fahad AlajlanDepartment of Neuroscience Center, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.ORCID 0000-0002-0501-479X
Firdous AbdulwahabDepartment of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Jean-Luc BattiniInstitut de Recherche en Infectiologie de Montpellier, Université de Montpellier, CNRS, Montpellier, France.ORCID 0000-0002-5884-9934
Rojan İpekPaediatric Neurology, Faculty of Medicine, Dicle University, Diyarbakır, Turkey.
Peter BauerCentogene GmbH, Am Strande 7, 18055, Rostock, Germany.
Giovanni ZifarelliCentogene GmbH, Am Strande 7, 18055, Rostock, Germany.
Serdal GungorInonu University, Faculty of Medicine, Turgut Ozal Research Center, Department of Pediatrics, Division of Pediatric Neurology, Malatya, Turkey.
Semra Hiz KurulDokuz Eylul University, School of Medicine, Department of Paediatric Neurology, Izmir, Turkey.
Hanns LochmullerChildren's Hospital of Eastern Ontario Research Institute and Division of Neurology, Department of Medicine, The Ottawa Hospital, Ottawa, Canada.ORCID 0000-0003-2324-8001
Sahar I Da'asDepartment of Human Genetics, Sidra Medicine, Doha, Qatar.ORCID 0000-0003-3438-5028
Khalid A FakhroDepartment of Human Genetics, Sidra Medicine, Doha, Qatar.ORCID 0000-0002-3150-1276
Alicia Gómez-PascualDepartment of Information and Communications Engineering, University of Murcia, Campus Espinardo, 30100, Murcia, Spain.ORCID 0000-0003-2348-9083
Juan A BotíaDepartment of Information and Communications Engineering, University of Murcia, Campus Espinardo, 30100, Murcia, Spain.ORCID 0000-0002-6992-598X
Nicholas W WoodDepartment of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.ORCID 0000-0002-9500-3348
Rita HorvathDepartment of Clinical Neurosciences, University of Cambridge, Cambridge, UK.ORCID 0000-0002-9841-170X
Andreas M ErnstDepartment of Cell Biology, Yale School of Medicine, New Haven, CT, USA.ORCID 0000-0001-7359-7184
James E RothmanDepartment of Cell Biology, Yale School of Medicine, New Haven, CT, USA.
Meriel McEntagartMedical Genetics Department, St George's University Hospitals, London, SWI7 0RE, UK.
Yanick J CrowUniversité Paris Cité, Imagine Institute, Laboratory of Neurogenetics and Neuroinflammation, INSERM UMR 1163, Paris, France.ORCID 0000-0001-7211-7564
Fowzan S AlkurayaDepartment of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.ORCID 0000-0003-4158-341X
Gaël NicolasUniv Rouen Normandie, Inserm U1245, CHU Rouen, Department of Genetics and CNRMAJ, F-76000, Rouen, France.ORCID 0000-0001-9391-7800
SYNaPS Study Group
Thomas ArnesenDepartment of Biomedicine, University of Bergen, Bergen, Norway. thomas.arnesen@uib.no.ORCID 0000-0002-3005-147X
Henry HouldenDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK. h.houlden@ucl.ac.uk.ORCID 0000-0002-2866-7777
National Hospital for Neurology and Neurosurgery · GBUniversity of Bergen · NOInserm · FRCommissariat à l'Énergie Atomique et aux Énergies Alternatives · FRKing Faisal Specialist Hospital & Research Centre · SAYale University · USAlfaisal University · SACentogene (Germany) · DECentre National de la Recherche Scientifique · FRHamad bin Khalifa University · QAHaukeland University Hospital · NOInternational Space University · FRUniversidad de Murcia · ESCentre for Human Genetics · GBConsejo Nacional de Investigaciones Científicas y Técnicas · ARDicle University · TRDokuz Eylül University · TRHospices Civils de Lyon · FRInonu University · TRNicolae Testemițanu State University of Medicine and Pharmacy · MD
Funding
Morphological Determinants of Intracellular Membrane CompartmentsR35GM142433 · NIGMS · UNIVERSITY OF CALIFORNIA, SAN DIEGO · PI Andreas Max Ernst · 2021 to 2026
$2.2MMedical Research Council MC_UU_00035/11Medical Research Council MR/N025431/1Medical Research Council MR/S01165X/1Medical Research Council MR/V009346/1NIGMS NIH HHS R35 GM142433Wellcome Trust
Abstract
Primary familial brain calcification (PFBC) is characterized by calcium deposition in the brain, causing progressive movement disorders, psychiatric symptoms, and cognitive decline. PFBC is a heterogeneous disorder currently linked to variants in six different genes, but most patients remain genetically undiagnosed. Here, we identify biallelic NAA60 variants in ten individuals from seven families with autosomal recessive PFBC. The NAA60 variants lead to loss-of-function with lack of protein N-terminal (Nt)-acetylation activity. We show that the phosphate importer SLC20A2 is a substrate of NAA60 in vitro. In cells, loss of NAA60 caused reduced surface levels of SLC20A2 and a reduction in extracellular phosphate uptake. This study establishes NAA60 as a causal gene for PFBC, provides a possible biochemical explanation of its disease-causing mechanisms and underscores NAA60-mediated Nt-acetylation of transmembrane proteins as a fundamental process for healthy neurobiological functioning.
Indexed as
Brain DiseasesAcetylationBrainHumansInheritance PatternsMutationN-Terminal Acetyltransferase FPhosphatesSodium-Phosphate Cotransporter Proteins, Type IIINAA60 protein, humanN-Terminal Acetyltransferase FPhosphatesSLC20A2 protein, humanSodium-Phosphate Cotransporter Proteins, Type III
Identifiers
What OpenQuestion 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 OpenQuestion graph.