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Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.

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Title: Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.
Authors: Küry S; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France. sebastien.kury@chu-nantes.fr.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France. sebastien.kury@chu-nantes.fr., Stanton JE; Bernal Institute, University of Limerick, Limerick, Ireland.; Department of Biological Sciences, University of Limerick, Limerick, Ireland., van Woerden GM; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.; ENCORE Center of Expertise for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam, The Netherlands.; Department of Neuroscience, Erasmus Medical Center, Rotterdam, The Netherlands., Bosc-Rosati A; Institut de Pharmacologie et de Biologie Structurale (IPBS), Université de Toulouse (UT), Toulouse, France.; Infrastructure Nationale de Protéomique, ProFI, UAR, Toulouse, France., Hsieh TC; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany., Bray L; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France., Oloudé M; Nantes Université, CHU Nantes, INSERM, Center for Research in Transplantation and Translational Immunology, UMR 1064, Nantes, France., Rosenfelt C; Department of Pediatrics, University of Alberta, Edmonton, AB, Canada., Scott-Boyer MP; Centre de recherche du CHU de Québec-Université Laval, Québec, QC, Canada., Most V; Institute for Drug Discovery, Medical Faculty, Leipzig University, Leipzig, Germany., Wang T; Department of Medical Genetics, Center for Medical Genetics, Peking University Health Science Center, Beijing, China.; Neuroscience Research Institute, Peking University; Key Laboratory for Neuroscience, Ministry of Education of China & National Health Commission of China, Beijing, China.; Autism Research Center, Peking University Health Science Center, Beijing, China., Papendorf JJ; Universitätsmedizin Greifswald, Institut für Medizinische Biochemie und Molekularbiologie, Greifswald, Germany., de Konink C; ENCORE Center of Expertise for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam, The Netherlands.; Department of Neuroscience, Erasmus Medical Center, Rotterdam, The Netherlands., Deb W; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France., Vignard V; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France., Studencka-Turski M; Universitätsmedizin Greifswald, Institut für Medizinische Biochemie und Molekularbiologie, Greifswald, Germany., Besnard T; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France., Hajdukowicz AM; Universitätsmedizin Greifswald, Institut für Medizinische Biochemie und Molekularbiologie, Greifswald, Germany., Thiel FG; Universitätsmedizin Greifswald, Institut für Medizinische Biochemie und Molekularbiologie, Greifswald, Germany., Wolfgramm S; Universitätsmedizin Greifswald, Institut für Medizinische Biochemie und Molekularbiologie, Greifswald, Germany., Florenceau L; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France., Cuinat S; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France., Marsac S; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France., Verrès Y; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France., Dangoumau A; Université de Tours, INSERM, Imaging Brain & Neuropsychiatry iBraiN U1253, Tours, France., Poirier L; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France., Wentzensen IM; GeneDx, LLC, Gaithersburg, MD, USA., Tuttle A; GeneDx, LLC, Gaithersburg, MD, USA., Forster C; Loyola University Chicago, Chicago, IL, USA., Striesow J; Leibniz Institute for Plasma Science and Technology (INP), Greifswald, Germany., Golnik R; Department of Computer Science and Interdisciplinary Center for Bioinformatics, Bioinformatics Group, Universität Leipzig, Leipzig, Germany., Ortiz D; UPMC Children's Hospital of Pittsburgh, One Children's Hospital Drive, Pittsburgh, PA, USA., Jenkins L; UPMC Children's Hospital of Pittsburgh, One Children's Hospital Drive, Pittsburgh, PA, USA., Rosenfeld JA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Baylor Genetics Laboratory, Houston, TX, USA., Ziegler A; Department of Medical Genetics, University Hospital of Toulouse, Toulouse, France., Houdayer C; Service de Génétique médicale, CHU Angers, Angers, France., Bonneau D; Service de Génétique médicale, CHU Angers, Angers, France.; Mitovasc, UMR CNRS 6015, INSERM U1083, Angers University, Angers, France., Torti E; GeneDx, LLC, Gaithersburg, MD, USA., Begtrup A; GeneDx, LLC, Gaithersburg, MD, USA., Monaghan KG; GeneDx, LLC, Gaithersburg, MD, USA., Mullegama SV; GeneDx, LLC, Gaithersburg, MD, USA., Volker-Touw CMLN; Department of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht, The Netherlands., van Gassen KLI; Department of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht, The Netherlands., Oegema R; Department of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht, The Netherlands., de Pagter MS; Department of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht, The Netherlands., Steindl K; Institute of Medical Genetics, University of Zürich, Zurich, Switzerland., Rauch A; Institute of Medical Genetics, University of Zürich, Zurich, Switzerland.; University Children's Hospital Zurich, Zurich, Switzerland.; University of Zurich Research Priority Program ITINERARE: Innovative Therapies in Rare Diseases, Zurich, Switzerland.; University of Zurich Research Priority Program AdaBD: Adaptive Brain Circuits in Development and Learning, Zurich, Switzerland., Ivanovski I; Institute of Medical Genetics, University of Zürich, Zurich, Switzerland., McDonald K; Norton Children's Medical Group, University of Louisville School of Medicine, Louisville, KY, USA., Boothe E; University of Mississippi Medical Center, Jackson, MS, USA., Dauber A; Division of Endocrinology, Children's National Hospital and Department of Pediatrics, The George Washington University School of Medicine and Health Sciences, Washington, DC, USA., Baker J; Department of Medical Genetics and Genomics, Children's Minnesota, Minneapolis, MN, USA., Fabie NAV; Department of Medical Genetics and Genomics, Children's Minnesota, Minneapolis, MN, USA., Bernier RA; Department of Psychiatry & Behavioral Sciences, Center on Human Development and Disability, University of Washington, Seattle, WA, USA., Turner TN; Department of Genetics, Washington University School of Medicine, St. Louis, MO, USA., Srivastava S; Rosamund Stone Zander Translational Neuroscience Center, Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Dies KA; Rosamund Stone Zander Translational Neuroscience Center, Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Swanson LC; Rosamund Stone Zander Translational Neuroscience Center, Department of Neurology, Boston Children's Hospital, Boston, MA, USA., Costin C; Department of Genetics, Akron Children's Hospital, One Perkins Square, Akron, OH, USA., Abdulrazak A; Division of Genetics, Department of Pediatrics, West Virginia University School of Medicine, One Medical Center Drive, Morgantown, WV, USA., Jobling RK; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada., Pappas J; Clinical Genetic Services, Department of Pediatrics, NYU Grossman School of Medicine, New York, NY, USA.; Clinical Genetics, NYU Orthopedic Hospital, New York, NY, USA., Rabin R; Clinical Genetic Services, Department of Pediatrics, NYU Grossman School of Medicine, New York, NY, USA., Niyazov D; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC, USA., Chun-Hui Tsai A; Department of Pediatrics, College of Medicine, University of Illinois, Chicago, IL, USA., Kovak K; Department of Molecular and Medical Genetics, Oregon Health and Sciences University, OHSU, Portland, OR, USA., Beck DB; Division of Rheumatology, Department of Medicine, New York University Grossman School of Medicine, New York, NY, USA.; Center for Human Genetics and Genomics, New York University Grossman School of Medicine, New York, NY, USA., Malicdan MCV; Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD, USA.; National Institutes of Health Undiagnosed Diseases Program, National Human Genome Research Institute, NIH, Bethesda, MD, USA., Adams DR; National Institutes of Health Undiagnosed Diseases Program, National Human Genome Research Institute, NIH, Bethesda, MD, USA., Wolfe L; National Institutes of Health Undiagnosed Diseases Program, National Human Genome Research Institute, NIH, Bethesda, MD, USA., Ganetzky RD; Mitochondrial Medicine Program, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pediatrics, University of Pennsylvania, Perelman School of Medicine, Philadelphia, PA, USA., Muraresku CC; Mitochondrial Medicine Program, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Babikyan D; Department of Medical Genetics, Yerevan State Medical University after Mkhitar Heratsi, Yerevan, Armenia.; Laboratory of Molecular Genetics, Center of Medical Genetics and Primary Health Care, Yerevan, Armenia., Sedláček Z; Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic., Hančárová M; Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic., Timberlake AT; Wyss Department of Plastic Surgery, NYU Langone Medical Center, New York, NY, USA., Saif HA; Department of Human and Molecular Genetics, Division of Clinical Genetics, Virginia Commonwealth University School of Medicine, Richmond, VA, USA.; Department of Pediatrics, Division of Clinical Genetics, Virginia Commonwealth University School of Medicine, Richmond, VA, USA., Nestler B; Department of Human and Molecular Genetics, Division of Clinical Genetics, Virginia Commonwealth University School of Medicine, Richmond, VA, USA., King K; Department of Human and Molecular Genetics, Division of Clinical Genetics, Virginia Commonwealth University School of Medicine, Richmond, VA, USA., Hajianpour MJ; Division of Medical Genetics and Genomics, Department of Pediatrics, Albany Medical College, Albany, NY, USA., Costain G; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.; Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, ON, Canada., Prendergast D; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.; Department of Paediatrics, Temerty Faculty of Medicine, University of Toronto, Toronto, ON, Canada., Li C; McMaster University Medical Center, Hamilton, ON, Canada., Geneviève D; Université Montpellier, Inserm U 1183, Centre de référence maladies rares anomalies du développement, Service de génétique médicale, Hôpital Arnaud de Villeneuve, Montpellier, France., Vitobello A; UMR 1231 GAD, Inserm, Université de Bourgogne Franche Comté, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, Fédération Hospitalo-Universitaire-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Sorlin A; UMR 1231 GAD, Inserm, Université de Bourgogne Franche Comté, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, Fédération Hospitalo-Universitaire-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'interrégion Est et FHU TRANSLAD, Centre Hospitalier Universitaire de Dijon, Dijon, France., Philippe C; UMR 1231 GAD, Inserm, Université de Bourgogne Franche Comté, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, Fédération Hospitalo-Universitaire-TRANSLAD, CHU Dijon Bourgogne, Dijon, France., Harel T; Department of Genetics, Hadassah Medical Organization, Jerusalem, Israel.; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel., Toker O; Department of Pediatrics, Allergy and Clinical Immunology Unit, Shaare Zedek Medical Center, Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel., Sabir A; Clinical Genetics Department, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, UK., Lim D; Clinical Genetics Department, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, UK., Hamilton MJ; West of Scotland Clinical Genetics Service, Queen Elizabeth University Hospital, Glasgow, UK., Bryson LJ; West of Scotland Clinical Genetics Service, Queen Elizabeth University Hospital, Glasgow, UK., Cleary E; South East Scotland Genetics Service, Western General Hospital, Edinburgh, UK.; Centre for Clinical Brain Sciences, University of Edinburgh, Edinburgh, UK.; UK Dementia Research Institute at University of Edinburgh, University of Edinburgh, Edinburgh, UK., Weber S; Service de Génétique Médicale, Hôpital Armand-Trousseau, APHP, Sorbonne Université, Paris, France., Hoffman TL; Department of Genetics, Southern California Kaiser Permanente Medical Group, Anaheim, CA, USA., Cueto-González AM; Department of Clinical and Molecular Genetics, Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Medicine Genetics Group, Vall d'Hebron Institut de Recerca (VHIR), Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain., Tizzano EF; Department of Clinical and Molecular Genetics, Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Medicine Genetics Group, Vall d'Hebron Institut de Recerca (VHIR), Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain., Gómez-Andrés D; Pediatric Neurology, Vall d'Hebron Institut de Recerca (VHIR), Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain., Codina-Solà M; Department of Clinical and Molecular Genetics, Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Medicine Genetics Group, Vall d'Hebron Institut de Recerca (VHIR), Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain., Ververi A; Department of Genetics for Rare Diseases, 'Papageorgiou' General Hospital, Thessaloniki, Greece., Pavlidou E; Department of Speech and Language Therapy, University Hospital of Ioannina, Ioannina, Greece., Lambropoulos A; Genetic Unit, 1st Department of Obstetrics and Gynecology, School of Medicine, Aristotle University of Thessaloniki, 'Papageorgiou' General Hospital, Thessaloniki, Greece., Garganis K; Epilepsy Unit, St Luke's Hospital, Thessaloniki, Greece., Rio M; Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants Malades, AP-HP, Paris, France., Levy J; Department of Genetics, APHP-Robert Debré University Hospital, Paris, France.; Multi-site medical biology laboratory SeqOIA-FMG2025, Paris, France., Langas SJ; Division of Genetics, Genomics and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.; Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL, USA., McRae AM; Division of Genetics, Genomics and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA., Lessard MK; Division of Medical Genetics, Department of Specialised Medicine, McGill University Health Centre, Department of Human Genetics, McGill University, Montreal, QC, Canada., D'Agostino MD; Division of Medical Genetics, Department of Specialised Medicine, McGill University Health Centre, Department of Human Genetics, McGill University, Montreal, QC, Canada., De Bie I; Division of Medical Genetics, Department of Specialised Medicine, McGill University Health Centre, Department of Human Genetics, McGill University, Montreal, QC, Canada., Wegler M; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Abou Jamra R; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Kamphausen SB; Institute of Human Genetics, University Hospital Magdeburg, University Hospital Magdeburg, Magdeburg, Germany., Bothe V; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany., Potocki L; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA., Olinger E; Center for Human Genetics, Cliniques Universitaires Saint-Luc, UCLouvain, Brussels, Belgium., Sznajer Y; Center for Human Genetics, Cliniques Universitaires Saint-Luc, UCLouvain, Brussels, Belgium., Wiame E; Center for Human Genetics, Cliniques Universitaires Saint-Luc, UCLouvain, Brussels, Belgium., Thompson ML; Department of Pathology and Immunology, Division of Laboratory and Genomic Medicine, Washington University School of Medicine in Saint Louis, St. Louis, MO, USA., Schroeder MC; Department of Pathology and Immunology, Division of Laboratory and Genomic Medicine, Washington University School of Medicine in Saint Louis, St. Louis, MO, USA.; Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA., Gooch C; Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University in St Louis, St. Louis, MO, USA., Smith RA; Department of Pediatrics, Division of Genetics and Metabolism, University of North Carolina Health, Chapel Hill, NC, USA., Pandya A; Department of Pediatrics, Division of Genetics and Metabolism, University of North Carolina Health, Chapel Hill, NC, USA., Busch LM; Universitätsmedizin Greifswald, Interfakultäres Institut für Genetik und Funktionelle Genomforschung, Abteilung für Funktionelle Genomforschung, Greifswald, Germany., Völker U; Universitätsmedizin Greifswald, Interfakultäres Institut für Genetik und Funktionelle Genomforschung, Abteilung für Funktionelle Genomforschung, Greifswald, Germany., Hammer E; Universitätsmedizin Greifswald, Interfakultäres Institut für Genetik und Funktionelle Genomforschung, Abteilung für Funktionelle Genomforschung, Greifswald, Germany., Wende K; Leibniz Institute for Plasma Science and Technology (INP), Greifswald, Germany., Cogné B; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France., Isidor B; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France., Meiler J; Institute for Drug Discovery, Medical Faculty, Leipzig University, Leipzig, Germany.; Department of Chemistry, Department of Pharmacology, Center for Structural Biology, Institute of Chemical Biology, Center for Applied Artificial Intelligence in Protein Dynamics, Vanderbilt University, Nashville, TN, USA., Ripoll C; ICV-iPS core facility, Sorbonne Université, Institut du Cerveau-Paris Brain Institute-ICM, Inserm, CNRS, APHP, Hôpital de la Pitié Salpêtrière, Paris, France., Bigou S; ICV-iPS core facility, Sorbonne Université, Institut du Cerveau-Paris Brain Institute-ICM, Inserm, CNRS, APHP, Hôpital de la Pitié Salpêtrière, Paris, France., Laumonnier F; Université de Tours, INSERM, Imaging Brain & Neuropsychiatry iBraiN U1253, Tours, France.; Service de Génétique, Centre Hospitalier Régional Universitaire, Tours, France., Hildebrand PW; Institut für Medizinische Physik und Biophysik, Universität Leipzig, Medizinische Fakultät, Leipzig, Germany.; Charité Universitätsmedizin Berlin, Corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Institute of Medical Physics and Biophysics, Berlin, Germany.; Berlin Institute of Health, Berlin, Germany., Eichler EE; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; Howard Hughes Medical Institute, University of Washington, Seattle, WA, USA., McWalter K; GeneDx, LLC, Gaithersburg, MD, USA., Krawitz PM; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany., Roux-Dalvai F; Centre de recherche du CHU de Québec-Université Laval, Québec, QC, Canada., Elgersma Y; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.; ENCORE Center of Expertise for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam, The Netherlands., Marcoux J; Institut de Pharmacologie et de Biologie Structurale (IPBS), Université de Toulouse (UT), Toulouse, France.; Infrastructure Nationale de Protéomique, ProFI, UAR, Toulouse, France., Bousquet MP; Institut de Pharmacologie et de Biologie Structurale (IPBS), Université de Toulouse (UT), Toulouse, France.; Infrastructure Nationale de Protéomique, ProFI, UAR, Toulouse, France., Droit A; Centre de recherche du CHU de Québec-Université Laval, Québec, QC, Canada.; Département de médecine moléculaire, Faculté de médecine, Université Laval, 2325 rue de l'Université, Québec, QC, Canada., Poschmann J; Nantes Université, CHU Nantes, INSERM, Center for Research in Transplantation and Translational Immunology, UMR 1064, Nantes, France., Grabrucker AM; Bernal Institute, University of Limerick, Limerick, Ireland.; Department of Biological Sciences, University of Limerick, Limerick, Ireland.; Health Research Institute (HRI), University of Limerick, Limerick, Ireland., Bolduc FV; Department of Pediatrics, University of Alberta, Edmonton, AB, Canada.; Neuroscience and Mental Health Institute, University of Alberta, Edmonton, AB, Canada.; Department of Medical Genetics, University of Alberta, Edmonton, AB, Canada., Bézieau S; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France. stephane.bezieau@chu-nantes.fr.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France. stephane.bezieau@chu-nantes.fr., Ebstein F; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France. frederic.ebstein@univ-nantes.fr., Krüger E; Universitätsmedizin Greifswald, Institut für Medizinische Biochemie und Molekularbiologie, Greifswald, Germany. elke.krueger@uni-greifswald.de.
Source: Nature communications [Nat Commun] 2025 Nov 26; Vol. 16 (1), pp. 10545. Date of Electronic Publication: 2025 Nov 26.
Publication Type: Journal Article
Journal Info: Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE
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Items – Name: Title
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  Data: Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.
– Name: Author
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  Data: <searchLink fieldCode="AU" term="%22Küry+S%22">Küry S</searchLink>; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France. sebastien.kury@chu-nantes.fr.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France. sebastien.kury@chu-nantes.fr.<br /><searchLink fieldCode="AU" term="%22Stanton+JE%22">Stanton JE</searchLink>; Bernal Institute, University of Limerick, Limerick, Ireland.; Department of Biological Sciences, University of Limerick, Limerick, Ireland.<br /><searchLink fieldCode="AU" term="%22van+Woerden+GM%22">van Woerden GM</searchLink>; Department of Clinical Genetics, Erasmus Medical Center, Rotterdam, The Netherlands.; ENCORE Center of Expertise for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam, The Netherlands.; Department of Neuroscience, Erasmus Medical Center, Rotterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Bosc-Rosati+A%22">Bosc-Rosati A</searchLink>; Institut de Pharmacologie et de Biologie Structurale (IPBS), Université de Toulouse (UT), Toulouse, France.; Infrastructure Nationale de Protéomique, ProFI, UAR, Toulouse, France.<br /><searchLink fieldCode="AU" term="%22Hsieh+TC%22">Hsieh TC</searchLink>; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, Bonn, Germany.<br /><searchLink fieldCode="AU" term="%22Bray+L%22">Bray L</searchLink>; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Oloudé+M%22">Oloudé M</searchLink>; Nantes Université, CHU Nantes, INSERM, Center for Research in Transplantation and Translational Immunology, UMR 1064, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Rosenfelt+C%22">Rosenfelt C</searchLink>; Department of Pediatrics, University of Alberta, Edmonton, AB, Canada.<br /><searchLink fieldCode="AU" term="%22Scott-Boyer+MP%22">Scott-Boyer MP</searchLink>; Centre de recherche du CHU de Québec-Université Laval, Québec, QC, Canada.<br /><searchLink fieldCode="AU" term="%22Most+V%22">Most V</searchLink>; Institute for Drug Discovery, Medical Faculty, Leipzig University, Leipzig, Germany.<br /><searchLink fieldCode="AU" term="%22Wang+T%22">Wang T</searchLink>; Department of Medical Genetics, Center for Medical Genetics, Peking University Health Science Center, Beijing, China.; Neuroscience Research Institute, Peking University; Key Laboratory for Neuroscience, Ministry of Education of China & National Health Commission of China, Beijing, China.; Autism Research Center, Peking University Health Science Center, Beijing, China.<br /><searchLink fieldCode="AU" term="%22Papendorf+JJ%22">Papendorf JJ</searchLink>; Universitätsmedizin Greifswald, Institut für Medizinische Biochemie und Molekularbiologie, Greifswald, Germany.<br /><searchLink fieldCode="AU" term="%22de+Konink+C%22">de Konink C</searchLink>; ENCORE Center of Expertise for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam, The Netherlands.; Department of Neuroscience, Erasmus Medical Center, Rotterdam, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Deb+W%22">Deb W</searchLink>; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Vignard+V%22">Vignard V</searchLink>; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Studencka-Turski+M%22">Studencka-Turski M</searchLink>; Universitätsmedizin Greifswald, Institut für Medizinische Biochemie und Molekularbiologie, Greifswald, Germany.<br /><searchLink fieldCode="AU" term="%22Besnard+T%22">Besnard T</searchLink>; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Hajdukowicz+AM%22">Hajdukowicz AM</searchLink>; Universitätsmedizin Greifswald, Institut für Medizinische Biochemie und Molekularbiologie, Greifswald, Germany.<br /><searchLink fieldCode="AU" term="%22Thiel+FG%22">Thiel FG</searchLink>; Universitätsmedizin Greifswald, Institut für Medizinische Biochemie und Molekularbiologie, Greifswald, Germany.<br /><searchLink fieldCode="AU" term="%22Wolfgramm+S%22">Wolfgramm S</searchLink>; Universitätsmedizin Greifswald, Institut für Medizinische Biochemie und Molekularbiologie, Greifswald, Germany.<br /><searchLink fieldCode="AU" term="%22Florenceau+L%22">Florenceau L</searchLink>; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Cuinat+S%22">Cuinat S</searchLink>; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Marsac+S%22">Marsac S</searchLink>; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Verrès+Y%22">Verrès Y</searchLink>; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Dangoumau+A%22">Dangoumau A</searchLink>; Université de Tours, INSERM, Imaging Brain & Neuropsychiatry iBraiN U1253, Tours, France.<br /><searchLink fieldCode="AU" term="%22Poirier+L%22">Poirier L</searchLink>; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Wentzensen+IM%22">Wentzensen IM</searchLink>; GeneDx, LLC, Gaithersburg, MD, USA.<br /><searchLink fieldCode="AU" term="%22Tuttle+A%22">Tuttle A</searchLink>; GeneDx, LLC, Gaithersburg, MD, USA.<br /><searchLink fieldCode="AU" term="%22Forster+C%22">Forster C</searchLink>; Loyola University Chicago, Chicago, IL, USA.<br /><searchLink fieldCode="AU" term="%22Striesow+J%22">Striesow J</searchLink>; Leibniz Institute for Plasma Science and Technology (INP), Greifswald, Germany.<br /><searchLink fieldCode="AU" term="%22Golnik+R%22">Golnik R</searchLink>; Department of Computer Science and Interdisciplinary Center for Bioinformatics, Bioinformatics Group, Universität Leipzig, Leipzig, Germany.<br /><searchLink fieldCode="AU" term="%22Ortiz+D%22">Ortiz D</searchLink>; UPMC Children's Hospital of Pittsburgh, One Children's Hospital Drive, Pittsburgh, PA, USA.<br /><searchLink fieldCode="AU" term="%22Jenkins+L%22">Jenkins L</searchLink>; UPMC Children's Hospital of Pittsburgh, One Children's Hospital Drive, Pittsburgh, PA, USA.<br /><searchLink fieldCode="AU" term="%22Rosenfeld+JA%22">Rosenfeld JA</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Baylor Genetics Laboratory, Houston, TX, USA.<br /><searchLink fieldCode="AU" term="%22Ziegler+A%22">Ziegler A</searchLink>; Department of Medical Genetics, University Hospital of Toulouse, Toulouse, France.<br /><searchLink fieldCode="AU" term="%22Houdayer+C%22">Houdayer C</searchLink>; Service de Génétique médicale, CHU Angers, Angers, France.<br /><searchLink fieldCode="AU" term="%22Bonneau+D%22">Bonneau D</searchLink>; Service de Génétique médicale, CHU Angers, Angers, France.; Mitovasc, UMR CNRS 6015, INSERM U1083, Angers University, Angers, France.<br /><searchLink fieldCode="AU" term="%22Torti+E%22">Torti E</searchLink>; GeneDx, LLC, Gaithersburg, MD, USA.<br /><searchLink fieldCode="AU" term="%22Begtrup+A%22">Begtrup A</searchLink>; GeneDx, LLC, Gaithersburg, MD, USA.<br /><searchLink fieldCode="AU" term="%22Monaghan+KG%22">Monaghan KG</searchLink>; GeneDx, LLC, Gaithersburg, MD, USA.<br /><searchLink fieldCode="AU" term="%22Mullegama+SV%22">Mullegama SV</searchLink>; GeneDx, LLC, Gaithersburg, MD, USA.<br /><searchLink fieldCode="AU" term="%22Volker-Touw+CMLN%22">Volker-Touw CMLN</searchLink>; Department of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht, The Netherlands.<br /><searchLink fieldCode="AU" term="%22van+Gassen+KLI%22">van Gassen KLI</searchLink>; Department of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Oegema+R%22">Oegema R</searchLink>; Department of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht, The Netherlands.<br /><searchLink fieldCode="AU" term="%22de+Pagter+MS%22">de Pagter MS</searchLink>; Department of Genetics, University Medical Centre Utrecht, Utrecht University, Utrecht, The Netherlands.<br /><searchLink fieldCode="AU" term="%22Steindl+K%22">Steindl K</searchLink>; Institute of Medical Genetics, University of Zürich, Zurich, Switzerland.<br /><searchLink fieldCode="AU" term="%22Rauch+A%22">Rauch A</searchLink>; Institute of Medical Genetics, University of Zürich, Zurich, Switzerland.; University Children's Hospital Zurich, Zurich, Switzerland.; University of Zurich Research Priority Program ITINERARE: Innovative Therapies in Rare Diseases, Zurich, Switzerland.; University of Zurich Research Priority Program AdaBD: Adaptive Brain Circuits in Development and Learning, Zurich, Switzerland.<br /><searchLink fieldCode="AU" term="%22Ivanovski+I%22">Ivanovski I</searchLink>; Institute of Medical Genetics, University of Zürich, Zurich, Switzerland.<br /><searchLink fieldCode="AU" term="%22McDonald+K%22">McDonald K</searchLink>; Norton Children's Medical Group, University of Louisville School of Medicine, Louisville, KY, USA.<br /><searchLink fieldCode="AU" term="%22Boothe+E%22">Boothe E</searchLink>; University of Mississippi Medical Center, Jackson, MS, USA.<br /><searchLink fieldCode="AU" term="%22Dauber+A%22">Dauber A</searchLink>; Division of Endocrinology, Children's National Hospital and Department of Pediatrics, The George Washington University School of Medicine and Health Sciences, Washington, DC, USA.<br /><searchLink fieldCode="AU" term="%22Baker+J%22">Baker J</searchLink>; Department of Medical Genetics and Genomics, Children's Minnesota, Minneapolis, MN, USA.<br /><searchLink fieldCode="AU" term="%22Fabie+NAV%22">Fabie NAV</searchLink>; Department of Medical Genetics and Genomics, Children's Minnesota, Minneapolis, MN, USA.<br /><searchLink fieldCode="AU" term="%22Bernier+RA%22">Bernier RA</searchLink>; Department of Psychiatry & Behavioral Sciences, Center on Human Development and Disability, University of Washington, Seattle, WA, USA.<br /><searchLink fieldCode="AU" term="%22Turner+TN%22">Turner TN</searchLink>; Department of Genetics, Washington University School of Medicine, St. Louis, MO, USA.<br /><searchLink fieldCode="AU" term="%22Srivastava+S%22">Srivastava S</searchLink>; Rosamund Stone Zander Translational Neuroscience Center, Department of Neurology, Boston Children's Hospital, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Dies+KA%22">Dies KA</searchLink>; Rosamund Stone Zander Translational Neuroscience Center, Department of Neurology, Boston Children's Hospital, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Swanson+LC%22">Swanson LC</searchLink>; Rosamund Stone Zander Translational Neuroscience Center, Department of Neurology, Boston Children's Hospital, Boston, MA, USA.<br /><searchLink fieldCode="AU" term="%22Costin+C%22">Costin C</searchLink>; Department of Genetics, Akron Children's Hospital, One Perkins Square, Akron, OH, USA.<br /><searchLink fieldCode="AU" term="%22Abdulrazak+A%22">Abdulrazak A</searchLink>; Division of Genetics, Department of Pediatrics, West Virginia University School of Medicine, One Medical Center Drive, Morgantown, WV, USA.<br /><searchLink fieldCode="AU" term="%22Jobling+RK%22">Jobling RK</searchLink>; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Pappas+J%22">Pappas J</searchLink>; Clinical Genetic Services, Department of Pediatrics, NYU Grossman School of Medicine, New York, NY, USA.; Clinical Genetics, NYU Orthopedic Hospital, New York, NY, USA.<br /><searchLink fieldCode="AU" term="%22Rabin+R%22">Rabin R</searchLink>; Clinical Genetic Services, Department of Pediatrics, NYU Grossman School of Medicine, New York, NY, USA.<br /><searchLink fieldCode="AU" term="%22Niyazov+D%22">Niyazov D</searchLink>; Division of Medical Genetics, Department of Pediatrics, Duke University School of Medicine, Durham, NC, USA.<br /><searchLink fieldCode="AU" term="%22Chun-Hui+Tsai+A%22">Chun-Hui Tsai A</searchLink>; Department of Pediatrics, College of Medicine, University of Illinois, Chicago, IL, USA.<br /><searchLink fieldCode="AU" term="%22Kovak+K%22">Kovak K</searchLink>; Department of Molecular and Medical Genetics, Oregon Health and Sciences University, OHSU, Portland, OR, USA.<br /><searchLink fieldCode="AU" term="%22Beck+DB%22">Beck DB</searchLink>; Division of Rheumatology, Department of Medicine, New York University Grossman School of Medicine, New York, NY, USA.; Center for Human Genetics and Genomics, New York University Grossman School of Medicine, New York, NY, USA.<br /><searchLink fieldCode="AU" term="%22Malicdan+MCV%22">Malicdan MCV</searchLink>; Medical Genetics Branch, National Human Genome Research Institute, NIH, Bethesda, MD, USA.; National Institutes of Health Undiagnosed Diseases Program, National Human Genome Research Institute, NIH, Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22Adams+DR%22">Adams DR</searchLink>; National Institutes of Health Undiagnosed Diseases Program, National Human Genome Research Institute, NIH, Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22Wolfe+L%22">Wolfe L</searchLink>; National Institutes of Health Undiagnosed Diseases Program, National Human Genome Research Institute, NIH, Bethesda, MD, USA.<br /><searchLink fieldCode="AU" term="%22Ganetzky+RD%22">Ganetzky RD</searchLink>; Mitochondrial Medicine Program, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pediatrics, University of Pennsylvania, Perelman School of Medicine, Philadelphia, PA, USA.<br /><searchLink fieldCode="AU" term="%22Muraresku+CC%22">Muraresku CC</searchLink>; Mitochondrial Medicine Program, Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.<br /><searchLink fieldCode="AU" term="%22Babikyan+D%22">Babikyan D</searchLink>; Department of Medical Genetics, Yerevan State Medical University after Mkhitar Heratsi, Yerevan, Armenia.; Laboratory of Molecular Genetics, Center of Medical Genetics and Primary Health Care, Yerevan, Armenia.<br /><searchLink fieldCode="AU" term="%22Sedláček+Z%22">Sedláček Z</searchLink>; Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.<br /><searchLink fieldCode="AU" term="%22Hančárová+M%22">Hančárová M</searchLink>; Department of Biology and Medical Genetics, Charles University 2nd Faculty of Medicine and University Hospital Motol, Prague, Czech Republic.<br /><searchLink fieldCode="AU" term="%22Timberlake+AT%22">Timberlake AT</searchLink>; Wyss Department of Plastic Surgery, NYU Langone Medical Center, New York, NY, USA.<br /><searchLink fieldCode="AU" term="%22Saif+HA%22">Saif HA</searchLink>; Department of Human and Molecular Genetics, Division of Clinical Genetics, Virginia Commonwealth University School of Medicine, Richmond, VA, USA.; Department of Pediatrics, Division of Clinical Genetics, Virginia Commonwealth University School of Medicine, Richmond, VA, USA.<br /><searchLink fieldCode="AU" term="%22Nestler+B%22">Nestler B</searchLink>; Department of Human and Molecular Genetics, Division of Clinical Genetics, Virginia Commonwealth University School of Medicine, Richmond, VA, USA.<br /><searchLink fieldCode="AU" term="%22King+K%22">King K</searchLink>; Department of Human and Molecular Genetics, Division of Clinical Genetics, Virginia Commonwealth University School of Medicine, Richmond, VA, USA.<br /><searchLink fieldCode="AU" term="%22Hajianpour+MJ%22">Hajianpour MJ</searchLink>; Division of Medical Genetics and Genomics, Department of Pediatrics, Albany Medical College, Albany, NY, USA.<br /><searchLink fieldCode="AU" term="%22Costain+G%22">Costain G</searchLink>; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.; Department of Molecular Genetics, University of Toronto, Toronto, ON, Canada.; Program in Genetics and Genome Biology, SickKids Research Institute, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Prendergast+D%22">Prendergast D</searchLink>; Division of Clinical and Metabolic Genetics, The Hospital for Sick Children, Toronto, ON, Canada.; Department of Paediatrics, Temerty Faculty of Medicine, University of Toronto, Toronto, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Li+C%22">Li C</searchLink>; McMaster University Medical Center, Hamilton, ON, Canada.<br /><searchLink fieldCode="AU" term="%22Geneviève+D%22">Geneviève D</searchLink>; Université Montpellier, Inserm U 1183, Centre de référence maladies rares anomalies du développement, Service de génétique médicale, Hôpital Arnaud de Villeneuve, Montpellier, France.<br /><searchLink fieldCode="AU" term="%22Vitobello+A%22">Vitobello A</searchLink>; UMR 1231 GAD, Inserm, Université de Bourgogne Franche Comté, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, Fédération Hospitalo-Universitaire-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.<br /><searchLink fieldCode="AU" term="%22Sorlin+A%22">Sorlin A</searchLink>; UMR 1231 GAD, Inserm, Université de Bourgogne Franche Comté, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, Fédération Hospitalo-Universitaire-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.; Centre de Génétique et Centre de Référence Anomalies du Développement et Syndromes Malformatifs de l'interrégion Est et FHU TRANSLAD, Centre Hospitalier Universitaire de Dijon, Dijon, France.<br /><searchLink fieldCode="AU" term="%22Philippe+C%22">Philippe C</searchLink>; UMR 1231 GAD, Inserm, Université de Bourgogne Franche Comté, Dijon, France.; Unité Fonctionnelle Innovation en Diagnostic Génomique des Maladies Rares, Fédération Hospitalo-Universitaire-TRANSLAD, CHU Dijon Bourgogne, Dijon, France.<br /><searchLink fieldCode="AU" term="%22Harel+T%22">Harel T</searchLink>; Department of Genetics, Hadassah Medical Organization, Jerusalem, Israel.; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.<br /><searchLink fieldCode="AU" term="%22Toker+O%22">Toker O</searchLink>; Department of Pediatrics, Allergy and Clinical Immunology Unit, Shaare Zedek Medical Center, Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.<br /><searchLink fieldCode="AU" term="%22Sabir+A%22">Sabir A</searchLink>; Clinical Genetics Department, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, UK.<br /><searchLink fieldCode="AU" term="%22Lim+D%22">Lim D</searchLink>; Clinical Genetics Department, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, UK.; Institute of Cancer and Genomic Sciences, University of Birmingham, Birmingham, UK.<br /><searchLink fieldCode="AU" term="%22Hamilton+MJ%22">Hamilton MJ</searchLink>; West of Scotland Clinical Genetics Service, Queen Elizabeth University Hospital, Glasgow, UK.<br /><searchLink fieldCode="AU" term="%22Bryson+LJ%22">Bryson LJ</searchLink>; West of Scotland Clinical Genetics Service, Queen Elizabeth University Hospital, Glasgow, UK.<br /><searchLink fieldCode="AU" term="%22Cleary+E%22">Cleary E</searchLink>; South East Scotland Genetics Service, Western General Hospital, Edinburgh, UK.; Centre for Clinical Brain Sciences, University of Edinburgh, Edinburgh, UK.; UK Dementia Research Institute at University of Edinburgh, University of Edinburgh, Edinburgh, UK.<br /><searchLink fieldCode="AU" term="%22Weber+S%22">Weber S</searchLink>; Service de Génétique Médicale, Hôpital Armand-Trousseau, APHP, Sorbonne Université, Paris, France.<br /><searchLink fieldCode="AU" term="%22Hoffman+TL%22">Hoffman TL</searchLink>; Department of Genetics, Southern California Kaiser Permanente Medical Group, Anaheim, CA, USA.<br /><searchLink fieldCode="AU" term="%22Cueto-González+AM%22">Cueto-González AM</searchLink>; Department of Clinical and Molecular Genetics, Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Medicine Genetics Group, Vall d'Hebron Institut de Recerca (VHIR), Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Tizzano+EF%22">Tizzano EF</searchLink>; Department of Clinical and Molecular Genetics, Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Medicine Genetics Group, Vall d'Hebron Institut de Recerca (VHIR), Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Gómez-Andrés+D%22">Gómez-Andrés D</searchLink>; Pediatric Neurology, Vall d'Hebron Institut de Recerca (VHIR), Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Codina-Solà+M%22">Codina-Solà M</searchLink>; Department of Clinical and Molecular Genetics, Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Medicine Genetics Group, Vall d'Hebron Institut de Recerca (VHIR), Vall d'Hebron Hospital Universitari, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.<br /><searchLink fieldCode="AU" term="%22Ververi+A%22">Ververi A</searchLink>; Department of Genetics for Rare Diseases, 'Papageorgiou' General Hospital, Thessaloniki, Greece.<br /><searchLink fieldCode="AU" term="%22Pavlidou+E%22">Pavlidou E</searchLink>; Department of Speech and Language Therapy, University Hospital of Ioannina, Ioannina, Greece.<br /><searchLink fieldCode="AU" term="%22Lambropoulos+A%22">Lambropoulos A</searchLink>; Genetic Unit, 1st Department of Obstetrics and Gynecology, School of Medicine, Aristotle University of Thessaloniki, 'Papageorgiou' General Hospital, Thessaloniki, Greece.<br /><searchLink fieldCode="AU" term="%22Garganis+K%22">Garganis K</searchLink>; Epilepsy Unit, St Luke's Hospital, Thessaloniki, Greece.<br /><searchLink fieldCode="AU" term="%22Rio+M%22">Rio M</searchLink>; Service de Médecine Génomique des Maladies Rares, Hôpital Necker-Enfants Malades, AP-HP, Paris, France.<br /><searchLink fieldCode="AU" term="%22Levy+J%22">Levy J</searchLink>; Department of Genetics, APHP-Robert Debré University Hospital, Paris, France.; Multi-site medical biology laboratory SeqOIA-FMG2025, Paris, France.<br /><searchLink fieldCode="AU" term="%22Langas+SJ%22">Langas SJ</searchLink>; Division of Genetics, Genomics and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.; Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.<br /><searchLink fieldCode="AU" term="%22McRae+AM%22">McRae AM</searchLink>; Division of Genetics, Genomics and Metabolism, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.<br /><searchLink fieldCode="AU" term="%22Lessard+MK%22">Lessard MK</searchLink>; Division of Medical Genetics, Department of Specialised Medicine, McGill University Health Centre, Department of Human Genetics, McGill University, Montreal, QC, Canada.<br /><searchLink fieldCode="AU" term="%22D'Agostino+MD%22">D'Agostino MD</searchLink>; Division of Medical Genetics, Department of Specialised Medicine, McGill University Health Centre, Department of Human Genetics, McGill University, Montreal, QC, Canada.<br /><searchLink fieldCode="AU" term="%22De+Bie+I%22">De Bie I</searchLink>; Division of Medical Genetics, Department of Specialised Medicine, McGill University Health Centre, Department of Human Genetics, McGill University, Montreal, QC, Canada.<br /><searchLink fieldCode="AU" term="%22Wegler+M%22">Wegler M</searchLink>; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.<br /><searchLink fieldCode="AU" term="%22Abou+Jamra+R%22">Abou Jamra R</searchLink>; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.<br /><searchLink fieldCode="AU" term="%22Kamphausen+SB%22">Kamphausen SB</searchLink>; Institute of Human Genetics, University Hospital Magdeburg, University Hospital Magdeburg, Magdeburg, Germany.<br /><searchLink fieldCode="AU" term="%22Bothe+V%22">Bothe V</searchLink>; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.<br /><searchLink fieldCode="AU" term="%22Potocki+L%22">Potocki L</searchLink>; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.; Texas Children's Hospital, Houston, TX, USA.<br /><searchLink fieldCode="AU" term="%22Olinger+E%22">Olinger E</searchLink>; Center for Human Genetics, Cliniques Universitaires Saint-Luc, UCLouvain, Brussels, Belgium.<br /><searchLink fieldCode="AU" term="%22Sznajer+Y%22">Sznajer Y</searchLink>; Center for Human Genetics, Cliniques Universitaires Saint-Luc, UCLouvain, Brussels, Belgium.<br /><searchLink fieldCode="AU" term="%22Wiame+E%22">Wiame E</searchLink>; Center for Human Genetics, Cliniques Universitaires Saint-Luc, UCLouvain, Brussels, Belgium.<br /><searchLink fieldCode="AU" term="%22Thompson+ML%22">Thompson ML</searchLink>; Department of Pathology and Immunology, Division of Laboratory and Genomic Medicine, Washington University School of Medicine in Saint Louis, St. Louis, MO, USA.<br /><searchLink fieldCode="AU" term="%22Schroeder+MC%22">Schroeder MC</searchLink>; Department of Pathology and Immunology, Division of Laboratory and Genomic Medicine, Washington University School of Medicine in Saint Louis, St. Louis, MO, USA.; Department of Pediatrics, Washington University School of Medicine, St. Louis, MO, USA.<br /><searchLink fieldCode="AU" term="%22Gooch+C%22">Gooch C</searchLink>; Department of Pediatrics, Division of Genetics and Genomic Medicine, Washington University in St Louis, St. Louis, MO, USA.<br /><searchLink fieldCode="AU" term="%22Smith+RA%22">Smith RA</searchLink>; Department of Pediatrics, Division of Genetics and Metabolism, University of North Carolina Health, Chapel Hill, NC, USA.<br /><searchLink fieldCode="AU" term="%22Pandya+A%22">Pandya A</searchLink>; Department of Pediatrics, Division of Genetics and Metabolism, University of North Carolina Health, Chapel Hill, NC, USA.<br /><searchLink fieldCode="AU" term="%22Busch+LM%22">Busch LM</searchLink>; Universitätsmedizin Greifswald, Interfakultäres Institut für Genetik und Funktionelle Genomforschung, Abteilung für Funktionelle Genomforschung, Greifswald, Germany.<br /><searchLink fieldCode="AU" term="%22Völker+U%22">Völker U</searchLink>; Universitätsmedizin Greifswald, Interfakultäres Institut für Genetik und Funktionelle Genomforschung, Abteilung für Funktionelle Genomforschung, Greifswald, Germany.<br /><searchLink fieldCode="AU" term="%22Hammer+E%22">Hammer E</searchLink>; Universitätsmedizin Greifswald, Interfakultäres Institut für Genetik und Funktionelle Genomforschung, Abteilung für Funktionelle Genomforschung, Greifswald, Germany.<br /><searchLink fieldCode="AU" term="%22Wende+K%22">Wende K</searchLink>; Leibniz Institute for Plasma Science and Technology (INP), Greifswald, Germany.<br /><searchLink fieldCode="AU" term="%22Cogné+B%22">Cogné B</searchLink>; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Isidor+B%22">Isidor B</searchLink>; Nantes Université, CHU Nantes, Service de Génétique Médicale, Nantes, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.<br /><searchLink fieldCode="AU" term="%22Meiler+J%22">Meiler J</searchLink>; Institute for Drug Discovery, Medical Faculty, Leipzig University, Leipzig, Germany.; Department of Chemistry, Department of Pharmacology, Center for Structural Biology, Institute of Chemical Biology, Center for Applied Artificial Intelligence in Protein Dynamics, Vanderbilt University, Nashville, TN, USA.<br /><searchLink fieldCode="AU" term="%22Ripoll+C%22">Ripoll C</searchLink>; ICV-iPS core facility, Sorbonne Université, Institut du Cerveau-Paris Brain Institute-ICM, Inserm, CNRS, APHP, Hôpital de la Pitié Salpêtrière, Paris, France.<br /><searchLink fieldCode="AU" term="%22Bigou+S%22">Bigou S</searchLink>; ICV-iPS core facility, Sorbonne Université, Institut du Cerveau-Paris Brain Institute-ICM, Inserm, CNRS, APHP, Hôpital de la Pitié Salpêtrière, Paris, France.<br /><searchLink fieldCode="AU" term="%22Laumonnier+F%22">Laumonnier F</searchLink>; Université de Tours, INSERM, Imaging Brain & Neuropsychiatry iBraiN U1253, Tours, France.; Service de Génétique, Centre Hospitalier Régional Universitaire, Tours, France.<br /><searchLink fieldCode="AU" term="%22Hildebrand+PW%22">Hildebrand PW</searchLink>; Institut für Medizinische Physik und Biophysik, Universität Leipzig, Medizinische Fakultät, Leipzig, Germany.; Charité Universitätsmedizin Berlin, Corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Institute of Medical Physics and Biophysics, Berlin, Germany.; Berlin Institute of Health, Berlin, Germany.<br /><searchLink fieldCode="AU" term="%22Eichler+EE%22">Eichler EE</searchLink>; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA, USA.; 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  Data: <searchLink fieldCode="JN" term="%22101528555%22">Nature communications</searchLink> [Nat Commun] 2025 Nov 26; Vol. 16 (1), pp. 10545. <i>Date of Electronic Publication: </i>2025 Nov 26.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Nature+Pub%2E+Group%22">Nature Pub. Group </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101528555 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>2041-1723 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2220411723%22">20411723 </searchLink><i>NLM ISO Abbreviation: </i>Nat Commun <i>Subsets: </i>MEDLINE
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      – TitleFull: Investigating the neuronal role of the proteasomal ATPase subunit gene PSMC5 in neurodevelopmental proteasomopathies.
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            NameFull: Busch LM
      – PersonEntity:
          Name:
            NameFull: Völker U
      – PersonEntity:
          Name:
            NameFull: Hammer E
      – PersonEntity:
          Name:
            NameFull: Wende K
      – PersonEntity:
          Name:
            NameFull: Cogné B
      – PersonEntity:
          Name:
            NameFull: Isidor B
      – PersonEntity:
          Name:
            NameFull: Meiler J
      – PersonEntity:
          Name:
            NameFull: Ripoll C
      – PersonEntity:
          Name:
            NameFull: Bigou S
      – PersonEntity:
          Name:
            NameFull: Laumonnier F
      – PersonEntity:
          Name:
            NameFull: Hildebrand PW
      – PersonEntity:
          Name:
            NameFull: Eichler EE
      – PersonEntity:
          Name:
            NameFull: McWalter K
      – PersonEntity:
          Name:
            NameFull: Krawitz PM
      – PersonEntity:
          Name:
            NameFull: Roux-Dalvai F
      – PersonEntity:
          Name:
            NameFull: Elgersma Y
      – PersonEntity:
          Name:
            NameFull: Marcoux J
      – PersonEntity:
          Name:
            NameFull: Bousquet MP
      – PersonEntity:
          Name:
            NameFull: Droit A
      – PersonEntity:
          Name:
            NameFull: Poschmann J
      – PersonEntity:
          Name:
            NameFull: Grabrucker AM
      – PersonEntity:
          Name:
            NameFull: Bolduc FV
      – PersonEntity:
          Name:
            NameFull: Bézieau S
      – PersonEntity:
          Name:
            NameFull: Ebstein F
      – PersonEntity:
          Name:
            NameFull: Krüger E
    IsPartOfRelationships:
      – BibEntity:
          Dates:
            – D: 26
              M: 11
              Text: 2025 Nov 26
              Type: published
              Y: 2025
          Identifiers:
            – Type: issn-electronic
              Value: 2041-1723
          Numbering:
            – Type: volume
              Value: 16
            – Type: issue
              Value: 1
          Titles:
            – TitleFull: Nature communications
              Type: main
ResultId 1