ArticleScience translational medicine2023
PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production.
Open access · greenAbstract read
In one paragraph
Article in Science translational medicine, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 26 papers, 1 of them a synthesis that pooled it.
0numbers the graph read from it
0cells of the map it votes in
26citing papers in PubMed, 1 pooled it
5.2field-weighted citation impact, top 4% 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
26 citing papers in PubMed, 1 synthesis or guideline pooled it, 34 citations in OpenAlex.
- Integrative bioinformatics frameworks for abdominal aortic aneurysm using GWAS meta-analysis, biological network construction, and structural modeling.Scientific reports · 2025Pooled it
- Lysine deficiency within a conserved lysine desert is critical for EEL-1/HUWE1 to support ubiquitin proteasome system function.PLoS genetics · 2026Article
- Identification of moderate effect size genes in autism spectrum disorder through a novel gene pairing approach.Communications biology · 2026Article
- Cell autonomous inflammation in VEXAS is mediated by cGAS-STING.bioRxiv : the preprint server for biology · 2026Article
- Molecular mechanisms in rare proteasomopathies.EULAR rheumatology open · 2026Review
- Lysine deficiency within a conserved lysine desert is critical for EEL-1/HUWE1 to support ubiquitin proteasome system function.bioRxiv : the preprint server for biology · 2025Article
- Neuronal hyperactivity becomes mTORC1 independent due to transcriptional changes in tuberous sclerosis complex disease models.Cell reports · 2025Article
- Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.Nature communications · 2025Article
- The impact of PANoptosis-related genes on immune profiles and subtype classification in ischemic stroke.Scientific reports · 2025Article
- Complex Genetics and Regulatory Drivers of Hypermobile Ehlers-Danlos Syndrome: Insights from Genome-Wide Association Study Meta-analysis.medRxiv : the preprint server for health sciences · 2025Article
- Role of Endoplasmic Reticulum Stress-Associated Genes in Septic Neonatal Foals.Antioxidants (Basel, Switzerland) · 2025Article
- Article
- Artificial intelligence-driven genotype-epigenotype-phenotype approaches to resolve challenges in syndrome diagnostics.EBioMedicine · 2025Article
- Construction destruction: Contribution of dyregulated proteostasis to neurodevelopmental disorders.Current opinion in neurobiology · 2025Review
- Emerging concepts and treatments in autoinflammatory interferonopathies and monogenic systemic lupus erythematosus.Nature reviews. Rheumatology · 2025Review
- Understanding neurodevelopmental proteasomopathies as new rare disease entities: A review of current concepts, molecular biomarkers, and perspectives.Genes & diseases · 2024Review
- Article
- GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases.medRxiv : the preprint server for health sciences · 2024Article
- PSMC5 insufficiency and P320R mutation impair proteasome function.Human molecular genetics · 2024Article
- Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.Nature genetics · 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
74 authors at 20 institutions in 10 countries.
Frédéric EbsteinInstitut für Medizinische Biochemie und Molekularbiologie (IMBM), Universitätsmedizin Greifswald, Ferdinand-Sauerbruch-Straße, 17475 Greifswald, Germany.ORCID 0000-0002-3729-7878
Sébastien KüryNantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France.ORCID 0000-0001-5497-0465
Victoria MostInstitut für Medizinische Physik und Biophysik, Universität Leipzig, Medizinische Fakultät, Härtelstr. 16-18, 04107 Leipzig, Germany.ORCID 0000-0002-2263-4608
Cory RosenfeltDepartment of Pediatrics, University of Alberta, Edmonton, AB CT6G 1C9, Canada.ORCID 0000-0003-1422-4411
Marie-Pier Scott-BoyerResearch Center of Quebec CHU-Université Laval, Québec, QC PQ G1E6W2, Canada.
Geeske M van WoerdenDepartment of Neuroscience, Erasmus University Medical Center, 3015 CN, Rotterdam, Netherlands.ORCID 0000-0003-2492-9239
Thomas BesnardNantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France.ORCID 0000-0003-4804-5147
Jonas Johannes PapendorfInstitut für Medizinische Biochemie und Molekularbiologie (IMBM), Universitätsmedizin Greifswald, Ferdinand-Sauerbruch-Straße, 17475 Greifswald, Germany.
Maja Studencka-TurskiInstitut für Medizinische Biochemie und Molekularbiologie (IMBM), Universitätsmedizin Greifswald, Ferdinand-Sauerbruch-Straße, 17475 Greifswald, Germany.ORCID 0000-0003-3688-8550
Tianyun WangDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.ORCID 0000-0002-5179-087X
Tzung-Chien HsiehInstitute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, 53127 Bonn, Germany.ORCID 0000-0003-3828-4419
Richard GolnikKlinik für Pädiatrie I, Universitätsklinikum Halle (Saale), 06120 Halle (Saale), Germany.ORCID 0000-0002-8582-5006
Dustin BaldridgeEdward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63130-4899, USA.ORCID 0000-0002-6027-6020
Cara ForsterGeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.
Charlotte de KoninkDepartment of Neuroscience, Erasmus University Medical Center, 3015 CN, Rotterdam, Netherlands.ORCID 0000-0001-8689-8808
Selina M W TeurlingsDepartment of Neuroscience, Erasmus University Medical Center, 3015 CN, Rotterdam, Netherlands.ORCID 0000-0003-2449-2567
Virginie VignardNantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France.
Richard H van JaarsveldDepartment of Genetics, University Medical Center Utrecht, 3508 AB, Utrecht, Netherlands.
Lesley AdesDepartment of Clinical Genetics, Children's Hospital at Westmead, Locked Bag 4001, Westmead, NSW 2145, Australia.
Benjamin CognéNantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France.
Cyril MignotAPHP, Hôpital Pitié-Salpêtrière, Département de Génétique, Centre de Reference Déficience Intellectuelle de Causes Rares, GRC UPMC Déficience Intellectuelle et Autisme, 75013 Paris, France.
Wallid DebNantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France.ORCID 0000-0002-5103-8573
Marjolijn C J JongmansDepartment of Genetics, University Medical Center Utrecht, 3508 AB, Utrecht, Netherlands.ORCID 0000-0001-6572-4374
F Sessions ColeEdward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63130-4899, USA.ORCID 0000-0002-3797-9369
Marie-José H van den BoogaardDepartment of Genetics, University Medical Center Utrecht, 3508 AB, Utrecht, Netherlands.ORCID 0000-0002-3100-9337
Jennifer A WambachEdward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63130-4899, USA.
Daniel J WegnerEdward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63130-4899, USA.ORCID 0000-0002-7721-3608
Sandra YangGeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA.
Vickie HannigDepartment of Medicine, Vanderbilt University Medical Center, Nashville, TN 37232, USA.
Jennifer Ann BraultDepartment of Medicine, Vanderbilt University Medical Center, Nashville, TN 37232, USA.
Neda ZadehGenetics Center and Division of Medical Genetics, Children's Hospital of Orange County, Orange, CA 92868, USA.
Bruce BennettsDisciplines of Genomic Medicine & Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney, Sydney, NSW 2145, Australia.ORCID 0000-0001-5598-0278
Boris KerenDépartement de Génétique, Centre de Référence des Déficiences Intellectuelles de Causes Rares, Groupe Hospitalier Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, 75013 Paris, France.ORCID 0000-0001-6172-8247
Anne-Claire GélineauDépartement de Génétique, Centre de Référence des Déficiences Intellectuelles de Causes Rares, Groupe Hospitalier Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, 75013 Paris, France.
Zöe PowisDepartment of Clinical Research, Ambry Genetics, Aliso Viejo, CA 92656, USA.
Meghan TowneDepartment of Clinical Research, Ambry Genetics, Aliso Viejo, CA 92656, USA.ORCID 0000-0001-9460-2368
Kristine BachmanGenomic Medicine Institute, Geisinger, Danville, PA 17822, USA.ORCID 0000-0002-4150-0437
Andrea SeeleyGenomic Medicine Institute, Geisinger, Danville, PA 17822, USA.ORCID 0000-0002-2213-0012
Anita E BeckDepartment of Pediatrics, Division of Genetic Medicine, University of Washington and Seattle Children's Hospital, Seattle, WA 98195-6320, USA.ORCID 0000-0002-7965-0326
Jennifer MorrisonDivision of Genetics, Arnold Palmer Hospital for Children, Orlando Health, Orlando, FL 32806, USA.
Rachel WestmanDivision of Genetics, St. Luke's Clinic, Boise, ID 83712, USA.
Kelly AverillDepartment of Pediatrics, Division of Pediatric Neurology, UT Health Science Center at San Antonio, San Antonio, TX 78229, USA.ORCID 0000-0003-3511-7703
Theresa BrunetInstitute of Human Genetics, Technical University of Munich, School of Medicine, 81675 Munich, Germany.ORCID 0000-0002-5183-780X
Judith HaastersKlinikum der Universität München, Integriertes Sozialpädiatrisches Zentrum, 80337 Munich, Germany.ORCID 0000-0001-7749-2136
Melissa T CarterChildren's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada.
Matthew OsmondChildren's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada.ORCID 0000-0002-5886-873X
Patricia G WheelerDivision of Genetics, Arnold Palmer Hospital for Children, Orlando Health, Orlando, FL 32806, USA.ORCID 0000-0002-0156-2449
Francesca ForzanoWellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK.
Shehla MohammedWellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK.
Yannis TrakadisDivision of Medical Genetics, McGill University Health Centre, Montreal, QC H4A 3J1, Canada.
Andrea AccogliDivision of Medical Genetics, McGill University Health Centre, Montreal, QC H4A 3J1, Canada.
Rachel HarrisonWellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK.
Yiran GuoCenter for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.ORCID 0000-0002-6549-8589
Hakon HakonarsonCenter for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.ORCID 0000-0003-2814-7461
Sophie RondeauService de Médecine Génomique des Maladies Rares, Hôpital Universitaire Necker-Enfants Malades, 75743 Paris, France.ORCID 0000-0001-5962-7033
Geneviève BaujatService de Médecine Génomique des Maladies Rares, Hôpital Universitaire Necker-Enfants Malades, 75743 Paris, France.
Giulia BarciaService de Médecine Génomique des Maladies Rares, Hôpital Universitaire Necker-Enfants Malades, 75743 Paris, France.ORCID 0000-0001-6657-5040
René Günther FeichtingerUniversity Children's Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), 5020 Salzburg, Austria.ORCID 0000-0002-4215-8258
Johannes Adalbert MayrUniversity Children's Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), 5020 Salzburg, Austria.ORCID 0000-0001-6970-336X
Martin PreiselUniversity Children's Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), 5020 Salzburg, Austria.ORCID 0000-0002-0177-9795
Frédéric LaumonnierUMR 1253, iBrain, Université de Tours, Inserm, 37032 Tours, France.ORCID 0000-0003-2567-0708
Tilmann KallinichDepartment of Pediatric Respiratory Medicine, Immunology and Critical Care Medicine, Charité Universitätsmedizin Berlin, 13353 Berlin, Germany.ORCID 0000-0003-2404-9397
Alexej KnausInstitute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, 53127 Bonn, Germany.ORCID 0000-0003-0366-0533
Bertrand IsidorNantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France.
Peter KrawitzInstitute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, 53127 Bonn, Germany.ORCID 0000-0002-3194-8625
Uwe VölkerUniversitätsmedizin Greifswald, Interfakultäres Institut für Genetik und Funktionelle Genomforschung, Abteilung für Funktionelle Genomforschung, 17487 Greifswald, Germany.ORCID 0000-0002-5689-3448
Elke HammerUniversitätsmedizin Greifswald, Interfakultäres Institut für Genetik und Funktionelle Genomforschung, Abteilung für Funktionelle Genomforschung, 17487 Greifswald, Germany.ORCID 0000-0002-1507-0402
Arnaud DroitResearch Center of Quebec CHU-Université Laval, Québec, QC PQ G1E6W2, Canada.ORCID 0000-0001-7922-790X
Evan E EichlerDepartment of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.ORCID 0000-0002-8246-4014
Ype ElgersmaENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus University Medical Center, 3015 CN, Rotterdam, Netherlands.ORCID 0000-0002-3758-1297
Peter W HildebrandInstitut für Medizinische Physik und Biophysik, Universität Leipzig, Medizinische Fakultät, Härtelstr. 16-18, 04107 Leipzig, Germany.ORCID 0000-0003-0063-1104
François BolducDepartment of Pediatrics, University of Alberta, Edmonton, AB CT6G 1C9, Canada.ORCID 0000-0002-6109-5467
Elke KrügerInstitut für Medizinische Biochemie und Molekularbiologie (IMBM), Universitätsmedizin Greifswald, Ferdinand-Sauerbruch-Straße, 17475 Greifswald, Germany.ORCID 0000-0002-2551-242X
Stéphane BézieauNantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France.ORCID 0000-0003-0095-1319
Centre National de la Recherche Scientifique · FRErasmus MC · NLMallinckrodt (United States) · USUniversitätsmedizin Greifswald · DEHôpital Necker-Enfants Malades · FRParacelsus Medical University · ATUniversity of Bonn · DEUtrecht University · NLAmbry Genetics (United States) · USAssistance Publique – Hôpitaux de Paris · FRChildren's Hospital of Philadelphia · USGuy's and St Thomas' NHS Foundation Trust · GBMcGill University Health Centre · CAOrlando Health · USThe University of Sydney · AUUniversité Laval · CAUniversity of Alberta · CAUniversity of Ottawa · CAVanderbilt University Medical Center · USChildren's Hospital of Orange County · US
Funding
Sporadic Mutations and Autism Spectrum DisordersR01MH101221 · NIMH · UNIVERSITY OF WASHINGTON · PI EICHLER, EVAN · 2013 to 2025
$9.2MAustrian Science Fund FWF I 4695NIMH NIH HHS R01 MH101221Wellcome Trust
Abstract
A critical step in preserving protein homeostasis is the recognition, binding, unfolding, and translocation of protein substrates by six AAA-ATPase proteasome subunits (ATPase-associated with various cellular activities) termed PSMC1-6, which are required for degradation of proteins by 26
Indexed as
Interferon Type IProteasome Endopeptidase ComplexAdenosine TriphosphatasesAnimalsATPases Associated with Diverse Cellular ActivitiesDrosophila melanogasterDrosophila ProteinsEndopeptidasesGene ExpressionHumansMiceProteomicsAdenosine TriphosphatasesATPases Associated with Diverse Cellular ActivitiesDrosophila ProteinsEndopeptidasesInterferon Type IProsbeta6 protein, DrosophilaProteasome Endopeptidase ComplexPSMC3 protein, humanPsmc3 protein, mouse
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