المؤلفون: Ebstein F; Institut für Medizinische Biochemie und Molekularbiologie (IMBM), Universitätsmedizin Greifswald, Ferdinand-Sauerbruch-Straße, 17475 Greifswald, Germany., Küry S; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France., Most V; Institut für Medizinische Physik und Biophysik, Universität Leipzig, Medizinische Fakultät, Härtelstr. 16-18, 04107 Leipzig, Germany., Rosenfelt C; Department of Pediatrics, University of Alberta, Edmonton, AB CT6G 1C9, Canada., Scott-Boyer MP; Research Center of Quebec CHU-Université Laval, Québec, QC PQ G1E6W2, Canada., van Woerden GM; Department of Neuroscience, Erasmus University Medical Center, 3015 CN, Rotterdam, Netherlands.; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus University Medical Center, 3015 CN, Rotterdam, Netherlands.; Department of Clinical Genetics, Erasmus University Medical Center, 3015 CN, Rotterdam, Netherlands., Besnard T; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France., Papendorf JJ; Institut für Medizinische Biochemie und Molekularbiologie (IMBM), Universitätsmedizin Greifswald, Ferdinand-Sauerbruch-Straße, 17475 Greifswald, Germany., Studencka-Turski M; Institut für Medizinische Biochemie und Molekularbiologie (IMBM), Universitätsmedizin Greifswald, Ferdinand-Sauerbruch-Straße, 17475 Greifswald, Germany., Wang T; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.; Department of Medical Genetics, Center for Medical Genetics, School of Basic Medical Sciences, Peking University Health Science Center, Beijing 100191, China.; Neuroscience Research Institute, Peking University; Key Laboratory for Neuroscience, Ministry of Education of China & National Health Commission of China, Beijing 100191, China., Hsieh TC; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, 53127 Bonn, Germany., Golnik R; Klinik für Pädiatrie I, Universitätsklinikum Halle (Saale), 06120 Halle (Saale), Germany., Baldridge D; Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63130-4899, USA., Forster C; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA., de Konink C; Department of Neuroscience, Erasmus University Medical Center, 3015 CN, Rotterdam, Netherlands.; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus University Medical Center, 3015 CN, Rotterdam, Netherlands., Teurlings SMW; Department of Neuroscience, Erasmus University Medical Center, 3015 CN, Rotterdam, Netherlands.; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus University Medical Center, 3015 CN, Rotterdam, Netherlands., Vignard V; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France., van Jaarsveld RH; Department of Genetics, University Medical Center Utrecht, 3508 AB, Utrecht, Netherlands., Ades L; Department of Clinical Genetics, Children's Hospital at Westmead, Locked Bag 4001, Westmead, NSW 2145, Australia.; Disciplines of Genomic Medicine & Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney, Sydney, NSW 2145, Australia., Cogné B; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France., Mignot C; APHP, Hôpital Pitié-Salpêtrière, Département de Génétique, Centre de Reference Déficience Intellectuelle de Causes Rares, GRC UPMC Déficience Intellectuelle et Autisme, 75013 Paris, France.; Sorbonne Universités, Institut du Cerveau et de la Moelle épinière, ICM, Inserm U1127, CNRS UMR 7225, 75013, Paris, France., Deb W; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France., Jongmans MCJ; Department of Genetics, University Medical Center Utrecht, 3508 AB, Utrecht, Netherlands.; Princess Máxima Center for Pediatric Oncology, 3584 CS Utrecht, Netherlands., Cole FS; Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63130-4899, USA., van den Boogaard MH; Department of Genetics, University Medical Center Utrecht, 3508 AB, Utrecht, Netherlands., Wambach JA; Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63130-4899, USA., Wegner DJ; Edward Mallinckrodt Department of Pediatrics, Washington University School of Medicine, St. Louis, MO 63130-4899, USA., Yang S; GeneDx, 207 Perry Parkway, Gaithersburg, MD 20877, USA., Hannig V; Department of Medicine, Vanderbilt University Medical Center, Nashville, TN 37232, USA., Brault JA; Department of Medicine, Vanderbilt University Medical Center, Nashville, TN 37232, USA., Zadeh N; Genetics Center and Division of Medical Genetics, Children's Hospital of Orange County, Orange, CA 92868, USA., Bennetts B; Disciplines of Genomic Medicine & Child and Adolescent Health, Faculty of Medicine and Health, University of Sydney, Sydney, NSW 2145, Australia.; Sydney Genome Diagnostics, Western Sydney Genetics Program, Children's Hospital at Westmead, Sydney, NSW, 2145, Australia., Keren B; Département de Génétique, Centre de Référence des Déficiences Intellectuelles de Causes Rares, Groupe Hospitalier Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, 75013 Paris, France., Gélineau AC; Département de Génétique, Centre de Référence des Déficiences Intellectuelles de Causes Rares, Groupe Hospitalier Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, 75013 Paris, France., Powis Z; Department of Clinical Research, Ambry Genetics, Aliso Viejo, CA 92656, USA., Towne M; Department of Clinical Research, Ambry Genetics, Aliso Viejo, CA 92656, USA., Bachman K; Genomic Medicine Institute, Geisinger, Danville, PA 17822, USA., Seeley A; Genomic Medicine Institute, Geisinger, Danville, PA 17822, USA., Beck AE; Department of Pediatrics, Division of Genetic Medicine, University of Washington and Seattle Children's Hospital, Seattle, WA 98195-6320, USA., Morrison J; Division of Genetics, Arnold Palmer Hospital for Children, Orlando Health, Orlando, FL 32806, USA., Westman R; Division of Genetics, St. Luke's Clinic, Boise, ID 83712, USA., Averill K; Department of Pediatrics, Division of Pediatric Neurology, UT Health Science Center at San Antonio, San Antonio, TX 78229, USA., Brunet T; Institute of Human Genetics, Technical University of Munich, School of Medicine, 81675 Munich, Germany.; Institute of Neurogenomics (ING), Helmholtz Zentrum München, German Research Center for Environmental Health, 85764 Neuherberg, Germany., Haasters J; Klinikum der Universität München, Integriertes Sozialpädiatrisches Zentrum, 80337 Munich, Germany., Carter MT; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada.; Department of Genetics, Children's Hospital of Eastern Ontario, Ottawa, ON K1H 8L1, Canada., Osmond M; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, ON K1H 8L1, Canada., Wheeler PG; Division of Genetics, Arnold Palmer Hospital for Children, Orlando Health, Orlando, FL 32806, USA., Forzano F; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK.; Clinical Genetics Department, Guy's and St Thomas' NHS Foundation Trust, London SE1 9RT, UK., Mohammed S; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK.; Clinical Genetics Department, Guy's and St Thomas' NHS Foundation Trust, London SE1 9RT, UK., Trakadis Y; Division of Medical Genetics, McGill University Health Centre, Montreal, QC H4A 3J1, Canada., Accogli A; Division of Medical Genetics, McGill University Health Centre, Montreal, QC H4A 3J1, Canada., Harrison R; Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge CB10 1SA, UK.; Department of Clinical Genetics, Nottingham University Hospitals NHS Trust, City Hospital Campus, the Gables, Gate 3, Hucknall Road, Nottingham NG5 1PB, UK., Guo Y; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Center for Data Driven Discovery in Biomedicine, Children's Hospital of Philadelphia, Philadelphia, PA 19146, USA., Hakonarson H; Center for Applied Genomics, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA., Rondeau S; Service de Médecine Génomique des Maladies Rares, Hôpital Universitaire Necker-Enfants Malades, 75743 Paris, France., Baujat G; Service de Médecine Génomique des Maladies Rares, Hôpital Universitaire Necker-Enfants Malades, 75743 Paris, France., Barcia G; Service de Médecine Génomique des Maladies Rares, Hôpital Universitaire Necker-Enfants Malades, 75743 Paris, France., Feichtinger RG; University Children's Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), 5020 Salzburg, Austria., Mayr JA; University Children's Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), 5020 Salzburg, Austria., Preisel M; University Children's Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), 5020 Salzburg, Austria., Laumonnier F; UMR 1253, iBrain, Université de Tours, Inserm, 37032 Tours, France.; Service de Génétique, Centre Hospitalier Régional Universitaire, 37032 Tours, France., Kallinich T; Department of Pediatric Respiratory Medicine, Immunology and Critical Care Medicine, Charité Universitätsmedizin Berlin, 13353 Berlin, Germany.; Deutsches Rheumaforschungszentrum, an institute of the Leibniz Association, Berlin and Berlin Institute of Health, 10117 Berlin, Germany., Knaus A; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, 53127 Bonn, Germany., Isidor B; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France., Krawitz P; Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn, Rheinische Friedrich-Wilhelms-Universität Bonn, 53127 Bonn, Germany., Völker U; Universitätsmedizin Greifswald, Interfakultäres Institut für Genetik und Funktionelle Genomforschung, Abteilung für Funktionelle Genomforschung, 17487 Greifswald, Germany., Hammer E; Universitätsmedizin Greifswald, Interfakultäres Institut für Genetik und Funktionelle Genomforschung, Abteilung für Funktionelle Genomforschung, 17487 Greifswald, Germany., Droit A; Research Center of Quebec CHU-Université Laval, Québec, QC PQ G1E6W2, Canada., Eichler EE; Department of Genome Sciences, University of Washington School of Medicine, Seattle, WA 98195, USA.; Howard Hughes Medical Institute, University of Washington, Seattle, WA 98195, USA., Elgersma Y; ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus University Medical Center, 3015 CN, Rotterdam, Netherlands.; Department of Clinical Genetics, Erasmus University Medical Center, 3015 CN, Rotterdam, Netherlands., Hildebrand PW; Institut für Medizinische Physik und Biophysik, Universität Leipzig, Medizinische Fakultät, Härtelstr. 16-18, 04107 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, 10178 Berlin, Germany., Bolduc F; Department of Pediatrics, University of Alberta, Edmonton, AB CT6G 1C9, Canada.; Neuroscience and Mental Health Institute, University of Alberta, Edmonton, AB T6G 2E1, Canada.; Department of Medical Genetics, University of Alberta, Edmonton, AB T6G 2H7, Canada., Krüger E; Institut für Medizinische Biochemie und Molekularbiologie (IMBM), Universitätsmedizin Greifswald, Ferdinand-Sauerbruch-Straße, 17475 Greifswald, Germany., Bézieau S; Nantes Université, CHU Nantes, Service de Génétique Médicale, 44000 Nantes, France.; Nantes Université, CHU Nantes, CNRS, INSERM, l'institut du thorax, 44000 Nantes, France.

المصدر: Science translational medicine [Sci Transl Med] 2023 May 31; Vol. 15 (698), pp. eabo3189. Date of Electronic Publication: 2023 May 31.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 101505086 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1946-6242 (Electronic) Linking ISSN: 19466234 NLM ISO Abbreviation: Sci Transl Med Subsets: MEDLINE

مواضيع طبية MeSH: Interferon Type I* , Proteasome Endopeptidase Complex*/metabolism, Animals ; Humans ; Mice ; Adenosine Triphosphatases/genetics ; Drosophila melanogaster ; Gene Expression ; Proteomics

المؤلفون: Leurs U; Department of Drug Design and Pharmacology, Faculty of Health and Medical Sciences, University of Copenhagen, DK-2100 Copenhagen, Denmark., Klein AB; Department of Drug Design and Pharmacology, Faculty of Health and Medical Sciences, University of Copenhagen, DK-2100 Copenhagen, Denmark., McSpadden ED; HHMI, University of California, Berkeley, CA 94720.; Department of Molecular and Cell Biology, University of California, Berkeley, CA 94720.; California Institute for Quantitative Biosciences, University of California, Berkeley, CA 94720., Griem-Krey N; Department of Drug Design and Pharmacology, Faculty of Health and Medical Sciences, University of Copenhagen, DK-2100 Copenhagen, Denmark., Solbak SMØ; Department of Drug Design and Pharmacology, Faculty of Health and Medical Sciences, University of Copenhagen, DK-2100 Copenhagen, Denmark., Houlton J; Department of Anatomy, Brain Health Research Centre and Brain Research New Zealand, University of Otago, 9054 Dunedin, New Zealand., Villumsen IS; Department of Drug Design and Pharmacology, Faculty of Health and Medical Sciences, University of Copenhagen, DK-2100 Copenhagen, Denmark., Vogensen SB; Department of Drug Design and Pharmacology, Faculty of Health and Medical Sciences, University of Copenhagen, DK-2100 Copenhagen, Denmark., Hamborg L; Department of Drug Design and Pharmacology, Faculty of Health and Medical Sciences, University of Copenhagen, DK-2100 Copenhagen, Denmark., Gauger SJ; Department of Drug Design and Pharmacology, Faculty of Health and Medical Sciences, University of Copenhagen, DK-2100 Copenhagen, Denmark., Palmelund LB; Department of Drug Design and Pharmacology, Faculty of Health and Medical Sciences, University of Copenhagen, DK-2100 Copenhagen, Denmark., Larsen ASG; Department of Drug Design and Pharmacology, Faculty of Health and Medical Sciences, University of Copenhagen, DK-2100 Copenhagen, Denmark., Shehata MA; Department of Drug Design and Pharmacology, Faculty of Health and Medical Sciences, University of Copenhagen, DK-2100 Copenhagen, Denmark., Kelstrup CD; Proteomics Program, Faculty of Health and Medical Sciences, Novo Nordisk Foundation Center for Protein Research, University of Copenhagen, DK-2200 Copenhagen, Denmark., Olsen JV; Proteomics Program, Faculty of Health and Medical Sciences, Novo Nordisk Foundation Center for Protein Research, University of Copenhagen, DK-2200 Copenhagen, Denmark., Bach A; Department of Drug Design and Pharmacology, Faculty of Health and Medical Sciences, University of Copenhagen, DK-2100 Copenhagen, Denmark., Burnie RO; Department of Anatomy, Brain Health Research Centre and Brain Research New Zealand, University of Otago, 9054 Dunedin, New Zealand., Kerr DS; Department of Pharmacology and Toxicology, University of Otago, 9054 Dunedin, New Zealand., Gowing EK; Department of Anatomy, Brain Health Research Centre and Brain Research New Zealand, University of Otago, 9054 Dunedin, New Zealand., Teurlings SMW; Department of Neuroscience, Erasmus University Medical Center, 3015 GD, Rotterdam, The Netherlands., Chi CC; HHMI, University of California, Berkeley, CA 94720.; Department of Molecular and Cell Biology, University of California, Berkeley, CA 94720.; California Institute for Quantitative Biosciences, University of California, Berkeley, CA 94720., Gee CL; HHMI, University of California, Berkeley, CA 94720.; Department of Molecular and Cell Biology, University of California, Berkeley, CA 94720.; California Institute for Quantitative Biosciences, University of California, Berkeley, CA 94720., Frølund B; Department of Drug Design and Pharmacology, Faculty of Health and Medical Sciences, University of Copenhagen, DK-2100 Copenhagen, Denmark., Kornum BR; Department of Neuroscience, Faculty of Health and Medical Sciences, University of Copenhagen, DK-2200 Copenhagen, Denmark., van Woerden GM; Department of Neuroscience, Erasmus University Medical Center, 3015 GD, Rotterdam, The Netherlands., Clausen RP; Department of Drug Design and Pharmacology, Faculty of Health and Medical Sciences, University of Copenhagen, DK-2100 Copenhagen, Denmark., Kuriyan J; HHMI, University of California, Berkeley, CA 94720.; Department of Molecular and Cell Biology, University of California, Berkeley, CA 94720.; California Institute for Quantitative Biosciences, University of California, Berkeley, CA 94720.; Department of Chemistry, University of California, Berkeley, CA 94720.; Physical Biosciences Division, Lawrence Berkeley National Laboratory, Berkeley, CA 94720., Clarkson AN; Department of Anatomy, Brain Health Research Centre and Brain Research New Zealand, University of Otago, 9054 Dunedin, New Zealand., Wellendorph P; Department of Drug Design and Pharmacology, Faculty of Health and Medical Sciences, University of Copenhagen, DK-2100 Copenhagen, Denmark; pw@sund.ku.dk.

المصدر: Proceedings of the National Academy of Sciences of the United States of America [Proc Natl Acad Sci U S A] 2021 Aug 03; Vol. 118 (31).

نوع المنشور: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, Non-P.H.S.

بيانات الدورية: Publisher: National Academy of Sciences Country of Publication: United States NLM ID: 7505876 Publication Model: Print Cited Medium: Internet ISSN: 1091-6490 (Electronic) Linking ISSN: 00278424 NLM ISO Abbreviation: Proc Natl Acad Sci U S A Subsets: MEDLINE

مواضيع طبية MeSH: Calcium-Calmodulin-Dependent Protein Kinase Type 2/*metabolism , Sodium Oxybate/*metabolism, Binding Sites ; Calcium-Calmodulin-Dependent Protein Kinase Type 2/genetics ; Carboxylic Acids/pharmacology ; Crystallography, X-Ray ; Cyclopentanes/pharmacology ; Gene Expression Regulation, Enzymologic/drug effects ; HEK293 Cells ; Humans ; Neuroprotection ; Protein Binding ; Protein Domains ; Signal Transduction