{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,30]],"date-time":"2026-09-30T12:27:39Z","timestamp":1790771259472,"version":"4.1.0"},"reference-count":116,"publisher":"American Association for the Advancement of Science (AAAS)","issue":"698","content-domain":{"domain":["www.science.org"],"crossmark-restriction":true},"short-container-title":["Sci. Transl. Med."],"published-print":{"date-parts":[[2023,5,31]]},"abstract":"<jats:p>\n                    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\n                    <jats:italic>S<\/jats:italic>\n                    proteasomes. Here, we identified 15 de novo missense variants in the\n                    <jats:italic>PSMC3<\/jats:italic>\n                    gene encoding the AAA-ATPase proteasome subunit PSMC3\/Rpt5 in 23 unrelated heterozygous patients with an autosomal dominant form of neurodevelopmental delay and intellectual disability. Expression of\n                    <jats:italic>PSMC3<\/jats:italic>\n                    variants in mouse neuronal cultures led to altered dendrite development, and deletion of the\n                    <jats:italic>PSMC3<\/jats:italic>\n                    fly ortholog Rpt5 impaired reversal learning capabilities in fruit flies. Structural modeling as well as proteomic and transcriptomic analyses of T cells derived from patients with\n                    <jats:italic>PSMC3<\/jats:italic>\n                    variants implicated the\n                    <jats:italic>PSMC3<\/jats:italic>\n                    variants in proteasome dysfunction through disruption of substrate translocation, induction of proteotoxic stress, and alterations in proteins controlling developmental and innate immune programs. The proteostatic perturbations in T cells from patients with\n                    <jats:italic>PSMC3<\/jats:italic>\n                    variants correlated with a dysregulation in type I interferon (IFN) signaling in these T cells, which could be blocked by inhibition of the intracellular stress sensor protein kinase R (PKR). These results suggest that proteotoxic stress activated PKR in patient-derived T cells, resulting in a type I IFN response. The potential relationship among proteosome dysfunction, type I IFN production, and neurodevelopment suggests new directions in our understanding of pathogenesis in some neurodevelopmental disorders.\n                  <\/jats:p>","DOI":"10.1126\/scitranslmed.abo3189","type":"journal-article","created":{"date-parts":[[2023,5,31]],"date-time":"2023-05-31T14:03:44Z","timestamp":1685541824000},"update-policy":"https:\/\/doi.org\/10.34133\/aaas_crossmark","source":"Crossref","is-referenced-by-count":39,"title":["PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production"],"prefix":"10.1126","volume":"15","author":[{"ORCID":"https:\/\/orcid.org\/0000-0002-3729-7878","authenticated-orcid":true,"given":"Fr\u00e9d\u00e9ric","family":"Ebstein","sequence":"first","affiliation":[{"name":"Institut f\u00fcr Medizinische Biochemie und Molekularbiologie (IMBM), Universit\u00e4tsmedizin Greifswald, Ferdinand-Sauerbruch-Stra\u00dfe, 17475 Greifswald, Germany."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5497-0465","authenticated-orcid":true,"given":"S\u00e9bastien","family":"K\u00fcry","sequence":"additional","affiliation":[{"name":"Nantes Universit\u00e9, CHU Nantes, Service de G\u00e9n\u00e9tique M\u00e9dicale, 44000 Nantes, France."},{"name":"Nantes Universit\u00e9, CHU Nantes, CNRS, INSERM, l\u2019institut du thorax, 44000 Nantes, France."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-2263-4608","authenticated-orcid":true,"given":"Victoria","family":"Most","sequence":"additional","affiliation":[{"name":"Institut f\u00fcr Medizinische Physik und Biophysik, Universit\u00e4t Leipzig, Medizinische Fakult\u00e4t, H\u00e4rtelstr. 16-18, 04107 Leipzig, Germany."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-1422-4411","authenticated-orcid":true,"given":"Cory","family":"Rosenfelt","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, University of Alberta, Edmonton, AB CT6G 1C9, Canada."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marie-Pier","family":"Scott-Boyer","sequence":"additional","affiliation":[{"name":"Research Center of Quebec CHU-Universit\u00e9 Laval, Qu\u00e9bec, QC PQ G1E6W2, Canada."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2492-9239","authenticated-orcid":true,"given":"Geeske M.","family":"van Woerden","sequence":"additional","affiliation":[{"name":"Department of Neuroscience, Erasmus University Medical Center, 3015 CN, Rotterdam, Netherlands."},{"name":"ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus University Medical Center, 3015 CN, Rotterdam, Netherlands."},{"name":"Department of Clinical Genetics, Erasmus University Medical Center, 3015 CN, Rotterdam, Netherlands."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-4804-5147","authenticated-orcid":true,"given":"Thomas","family":"Besnard","sequence":"additional","affiliation":[{"name":"Nantes Universit\u00e9, CHU Nantes, Service de G\u00e9n\u00e9tique M\u00e9dicale, 44000 Nantes, France."},{"name":"Nantes Universit\u00e9, CHU Nantes, CNRS, INSERM, l\u2019institut du thorax, 44000 Nantes, France."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jonas Johannes","family":"Papendorf","sequence":"additional","affiliation":[{"name":"Institut f\u00fcr Medizinische Biochemie und Molekularbiologie (IMBM), Universit\u00e4tsmedizin Greifswald, Ferdinand-Sauerbruch-Stra\u00dfe, 17475 Greifswald, Germany."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3688-8550","authenticated-orcid":true,"given":"Maja","family":"Studencka-Turski","sequence":"additional","affiliation":[{"name":"Institut f\u00fcr Medizinische Biochemie und Molekularbiologie (IMBM), Universit\u00e4tsmedizin Greifswald, Ferdinand-Sauerbruch-Stra\u00dfe, 17475 Greifswald, Germany."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5179-087X","authenticated-orcid":true,"given":"Tianyun","family":"Wang","sequence":"additional","affiliation":[{"name":"Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA."},{"name":"Department of Medical Genetics, Center for Medical Genetics, School of Basic Medical Sciences, Peking University Health Science Center, Beijing 100191, China."},{"name":"Neuroscience Research Institute, Peking University; Key Laboratory for Neuroscience, Ministry of Education of China &amp; National Health Commission of China, Beijing 100191, China."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-3828-4419","authenticated-orcid":true,"given":"Tzung-Chien","family":"Hsieh","sequence":"additional","affiliation":[{"name":"Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universit\u00e4t Bonn, 53127 Bonn, Germany."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-8582-5006","authenticated-orcid":true,"given":"Richard","family":"Golnik","sequence":"additional","affiliation":[{"name":"Klinik f\u00fcr P\u00e4diatrie I, Universit\u00e4tsklinikum Halle (Saale), 06120 Halle (Saale), Germany."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-6027-6020","authenticated-orcid":true,"given":"Dustin","family":"Baldridge","sequence":"additional","affiliation":[{"name":"Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St.\u00a0Louis, MO 63130-4899, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cara","family":"Forster","sequence":"additional","affiliation":[{"name":"GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8689-8808","authenticated-orcid":true,"given":"Charlotte","family":"de Konink","sequence":"additional","affiliation":[{"name":"Department of Neuroscience, Erasmus University Medical Center, 3015 CN, Rotterdam, Netherlands."},{"name":"ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus University Medical Center, 3015 CN, Rotterdam, Netherlands."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-2449-2567","authenticated-orcid":true,"given":"Selina M.W.","family":"Teurlings","sequence":"additional","affiliation":[{"name":"Department of Neuroscience, Erasmus University Medical Center, 3015 CN, Rotterdam, Netherlands."},{"name":"ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus University Medical Center, 3015 CN, Rotterdam, Netherlands."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Virginie","family":"Vignard","sequence":"additional","affiliation":[{"name":"Nantes Universit\u00e9, CHU Nantes, Service de G\u00e9n\u00e9tique M\u00e9dicale, 44000 Nantes, France."},{"name":"Nantes Universit\u00e9, CHU Nantes, CNRS, INSERM, l\u2019institut du thorax, 44000 Nantes, France."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Richard H.","family":"van Jaarsveld","sequence":"additional","affiliation":[{"name":"Department of Genetics, University Medical Center Utrecht, 3508 AB, Utrecht, Netherlands."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Lesley","family":"Ades","sequence":"additional","affiliation":[{"name":"Department of Clinical Genetics, Children\u2019s Hospital at Westmead, Locked Bag 4001, Westmead, NSW 2145, Australia."},{"name":"Disciplines of Genomic Medicine &amp; Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney, Sydney, NSW 2145, Australia."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Benjamin","family":"Cogn\u00e9","sequence":"additional","affiliation":[{"name":"Nantes Universit\u00e9, CHU Nantes, Service de G\u00e9n\u00e9tique M\u00e9dicale, 44000 Nantes, France."},{"name":"Nantes Universit\u00e9, CHU Nantes, CNRS, INSERM, l\u2019institut du thorax, 44000 Nantes, France."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cyril","family":"Mignot","sequence":"additional","affiliation":[{"name":"APHP, H\u00f4pital Piti\u00e9-Salp\u00eatri\u00e8re, D\u00e9partement de G\u00e9n\u00e9tique, Centre de Reference D\u00e9ficience Intellectuelle de Causes Rares, GRC UPMC D\u00e9ficience Intellectuelle et Autisme, 75013 Paris, France."},{"name":"Sorbonne Universit\u00e9s, Institut du Cerveau et de la Moelle \u00e9pini\u00e8re, ICM, Inserm U1127, CNRS UMR 7225, 75013, Paris, France."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5103-8573","authenticated-orcid":true,"given":"Wallid","family":"Deb","sequence":"additional","affiliation":[{"name":"Nantes Universit\u00e9, CHU Nantes, Service de G\u00e9n\u00e9tique M\u00e9dicale, 44000 Nantes, France."},{"name":"Nantes Universit\u00e9, CHU Nantes, CNRS, INSERM, l\u2019institut du thorax, 44000 Nantes, France."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6572-4374","authenticated-orcid":true,"given":"Marjolijn C.J.","family":"Jongmans","sequence":"additional","affiliation":[{"name":"Department of Genetics, University Medical Center Utrecht, 3508 AB, Utrecht, Netherlands."},{"name":"Princess M\u00e1xima Center for Pediatric Oncology, 3584 CS Utrecht, Netherlands."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3797-9369","authenticated-orcid":true,"given":"F. 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J.","family":"Wegner","sequence":"additional","affiliation":[{"name":"Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St.\u00a0Louis, MO 63130-4899, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Sandra","family":"Yang","sequence":"additional","affiliation":[{"name":"GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vickie","family":"Hannig","sequence":"additional","affiliation":[{"name":"Department of Medicine, Vanderbilt University Medical Center, Nashville, TN 37232, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jennifer Ann","family":"Brault","sequence":"additional","affiliation":[{"name":"Department of Medicine, Vanderbilt University Medical Center, Nashville, TN 37232, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Neda","family":"Zadeh","sequence":"additional","affiliation":[{"name":"Genetics Center and Division of Medical Genetics, Children\u2019s Hospital of Orange County, Orange, CA 92868, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-5598-0278","authenticated-orcid":true,"given":"Bruce","family":"Bennetts","sequence":"additional","affiliation":[{"name":"Disciplines of Genomic Medicine &amp; Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney, Sydney, NSW 2145, Australia."},{"name":"Sydney Genome Diagnostics, Western Sydney Genetics Program, Children\u2019s Hospital at Westmead, Sydney, NSW, 2145, Australia."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-6172-8247","authenticated-orcid":true,"given":"Boris","family":"Keren","sequence":"additional","affiliation":[{"name":"D\u00e9partement de G\u00e9n\u00e9tique, Centre de R\u00e9f\u00e9rence des D\u00e9ficiences Intellectuelles de Causes Rares, Groupe Hospitalier Piti\u00e9-Salp\u00eatri\u00e8re, Assistance Publique-H\u00f4pitaux de Paris, 75013 Paris, France."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anne-Claire","family":"G\u00e9lineau","sequence":"additional","affiliation":[{"name":"D\u00e9partement de G\u00e9n\u00e9tique, Centre de R\u00e9f\u00e9rence des D\u00e9ficiences Intellectuelles de Causes Rares, Groupe Hospitalier Piti\u00e9-Salp\u00eatri\u00e8re, Assistance Publique-H\u00f4pitaux de Paris, 75013 Paris, France."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Z\u00f6e","family":"Powis","sequence":"additional","affiliation":[{"name":"Department of Clinical Research, Ambry Genetics, Aliso Viejo, CA 92656, USA."}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9460-2368","authenticated-orcid":true,"given":"Meghan","family":"Towne","sequence":"additional","affiliation":[{"name":"Department of Clinical Research, Ambry Genetics, Aliso Viejo, CA 92656, 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