RIPK1 is dispensable for cell death regulation in β-cells during hyperglycemia

Autor: Veli, Önay, Kaya, Öykü, Varanda, Ana Beatriz, Hildebrandt, Ximena, Xiao, Peng, Estornes, Yann, Poggenberg, Matea, Wang, Yuan, Pasparakis, Manolis, Bertrand, Mathieu J.M., Walczak, Henning, Annibaldi, Alessandro, Cardozo, Alessandra K., Peltzer, Nieves

Publikováno v: In Molecular Metabolism September 2024 87

Biallelic human SHARPINloss of function induces autoinflammation and immunodeficiency

Autor: Oda, Hirotsugu, Manthiram, Kalpana, Chavan, Pallavi Pimpale, Rieser, Eva, Veli, Önay, Kaya, Öykü, Rauch, Charles, Nakabo, Shuichiro, Kuehn, Hye Sun, Swart, Mariël, Wang, Yanli, Çelik, Nisa Ilgim, Molitor, Anne, Ziaee, Vahid, Movahedi, Nasim, Shahrooei, Mohammad, Parvaneh, Nima, Alipour-olyei, Nasrin, Carapito, Raphael, Xu, Qin, Preite, Silvia, Beck, David B., Chae, Jae Jin, Nehrebecky, Michele, Ombrello, Amanda K., Hoffmann, Patrycja, Romeo, Tina, Deuitch, Natalie T., Matthíasardóttir, Brynja, Mullikin, James, Komarow, Hirsh, Stoddard, Jennifer, Niemela, Julie, Dobbs, Kerry, Sweeney, Colin L., Anderton, Holly, Lawlor, Kate E., Yoshitomi, Hiroyuki, Yang, Dan, Boehm, Manfred, Davis, Jeremy, Mudd, Pamela, Randazzo, Davide, Tsai, Wanxia Li, Gadina, Massimo, Kaplan, Mariana J., Toguchida, Junya, Mayer, Christian T., Rosenzweig, Sergio D., Notarangelo, Luigi D., Iwai, Kazuhiro, Silke, John, Schwartzberg, Pamela L., Boisson, Bertrand, Casanova, Jean-Laurent, Bahram, Seiamak, Rao, Anand Prahalad, Peltzer, Nieves, Walczak, Henning, Lalaoui, Najoua, Aksentijevich, Ivona, Kastner, Daniel L.

Publikováno v: Nature Immunology; 20240101, Issue: Preprints p1-14, 14p

Biallelic human SHARPIN loss of function induces autoinflammation and immunodeficiency.

Autor: Oda H; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA. hoda@uni-koeln.de.; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany. hoda@uni-koeln.de.; Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany. hoda@uni-koeln.de., Manthiram K; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA., Chavan PP; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Rieser E; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany.; Institute of Biochemistry I, Medical Faculty, University of Cologne, Cologne, Germany., Veli Ö; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany., Kaya Ö; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany., Rauch C; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany.; Institute of Biochemistry I, Medical Faculty, University of Cologne, Cologne, Germany., Nakabo S; National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, USA., Kuehn HS; Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD, USA., Swart M; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany., Wang Y; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany., Çelik NI; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany., Molitor A; Laboratoire d'ImmunoRhumatologie Moléculaire, INSERM UMR_S1109, Plateforme GENOMAX, Faculté de Médecine, Fédération Hospitalo-Universitaire OMICARE, Centre de Recherche d'Immunologie et d'Hématologie, CRBS, Fédération de Médecine Translationnelle de Strasbourg, Université de Strasbourg, Strasbourg, France.; Institut Thématique Interdisciplinaire (ITI) de Médecine de Précision de Strasbourg, Strasbourg, France., Ziaee V; Division of Rheumatology, Department of Pediatrics, Tehran University of Medical Sciences, Tehran, Iran.; Children's Medical Center, Pediatrics Center of Excellence, Tehran, Iran.; Pediatric Rheumatology Society of Iran, Tehran, Iran.; Pediatric Rheumatology Research Group, Rheumatology Research Center, Tehran, Iran., Movahedi N; Children's Medical Center, Pediatrics Center of Excellence, Tehran, Iran.; Pediatric Rheumatology Society of Iran, Tehran, Iran.; School of Medicine, Golestan University of Medical Sciences, Gorgan, Iran., Shahrooei M; Clinical and Diagnostic Immunology, Department of Microbiology, Immunology, and Transplantation, KU Leuven, Leuven, Belgium.; Dr. Shahrooei Lab, 22 Bahman St., Ashrafi Esfahani Blvd, Tehran, Iran., Parvaneh N; Children's Medical Center, Pediatrics Center of Excellence, Tehran, Iran.; Division of Allergy and Clinical Immunology, Department of Pediatrics, Tehran University of Medical Sciences, Tehran, Iran., Alipour-Olyei N; Laboratoire d'ImmunoRhumatologie Moléculaire, INSERM UMR_S1109, Plateforme GENOMAX, Faculté de Médecine, Fédération Hospitalo-Universitaire OMICARE, Centre de Recherche d'Immunologie et d'Hématologie, CRBS, Fédération de Médecine Translationnelle de Strasbourg, Université de Strasbourg, Strasbourg, France.; Institut Thématique Interdisciplinaire (ITI) de Médecine de Précision de Strasbourg, Strasbourg, France., Carapito R; Laboratoire d'ImmunoRhumatologie Moléculaire, INSERM UMR_S1109, Plateforme GENOMAX, Faculté de Médecine, Fédération Hospitalo-Universitaire OMICARE, Centre de Recherche d'Immunologie et d'Hématologie, CRBS, Fédération de Médecine Translationnelle de Strasbourg, Université de Strasbourg, Strasbourg, France.; Institut Thématique Interdisciplinaire (ITI) de Médecine de Précision de Strasbourg, Strasbourg, France.; Laboratoire d'Immunologie, Plateau Technique de Biologie, Pôle de Biologie, Nouvel Hôpital Civil, Strasbourg, France., Xu Q; National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA., Preite S; National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA., Beck DB; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.; Center for Human Genetics and Genomics, New York University Grossman School of Medicine, New York, NY, USA.; Division of Rheumatology, Department of Medicine, New York University Grossman School of Medicine, New York, NY, USA., Chae JJ; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Nehrebecky M; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Ombrello AK; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Hoffmann P; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Romeo T; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Deuitch NT; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Matthíasardóttir B; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Mullikin J; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA., Komarow H; National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA., Stoddard J; Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD, USA., Niemela J; Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD, USA., Dobbs K; National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA., Sweeney CL; National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA., Anderton H; The Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, Australia.; Department of Medical Biology, University of Melbourne, Parkville, Victoria, Australia., Lawlor KE; The Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, Australia.; Department of Medical Biology, University of Melbourne, Parkville, Victoria, Australia.; Centre for Innate Immunity and Infectious Diseases, Hudson Institute of Medical Research, Clayton, Victoria, Australia.; Department of Molecular and Translational Science, Monash University, Clayton, Victoria, Australia., Yoshitomi H; Institute for Life and Medical Sciences, Kyoto University, Kyoto, Japan.; Center for iPS Cell Research and Application, Kyoto University, Kyoto, Japan.; Graduate School of Medicine, Kyoto University, Kyoto, Japan., Yang D; National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA., Boehm M; National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA., Davis J; National Cancer Institute, National Institutes of Health, Bethesda, MD, USA., Mudd P; Division of Pediatric Otolaryngology, Children's National Hospital, Washington, DC, USA., Randazzo D; National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, USA., Tsai WL; National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, USA., Gadina M; National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, USA., Kaplan MJ; National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, USA., Toguchida J; Institute for Life and Medical Sciences, Kyoto University, Kyoto, Japan.; Center for iPS Cell Research and Application, Kyoto University, Kyoto, Japan., Mayer CT; National Cancer Institute, National Institutes of Health, Bethesda, MD, USA., Rosenzweig SD; Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD, USA., Notarangelo LD; National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA., Iwai K; Graduate School of Medicine, Kyoto University, Kyoto, Japan., Silke J; The Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, Australia.; Department of Medical Biology, University of Melbourne, Parkville, Victoria, Australia., Schwartzberg PL; National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA., Boisson B; St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, NY, USA.; Laboratory of Human Genetics of Infectious Diseases, INSERM, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, Paris Cité University, Paris, France., Casanova JL; St. Giles Laboratory of Human Genetics of Infectious Diseases, The Rockefeller University, New York, NY, USA.; Laboratory of Human Genetics of Infectious Diseases, INSERM, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, Paris Cité University, Paris, France.; Department of Pediatrics, Necker Hospital for Sick Children, Paris, France.; Howard Hughes Medical Institute, The Rockefeller University, New York, NY, USA., Bahram S; Laboratoire d'ImmunoRhumatologie Moléculaire, INSERM UMR_S1109, Plateforme GENOMAX, Faculté de Médecine, Fédération Hospitalo-Universitaire OMICARE, Centre de Recherche d'Immunologie et d'Hématologie, CRBS, Fédération de Médecine Translationnelle de Strasbourg, Université de Strasbourg, Strasbourg, France.; Institut Thématique Interdisciplinaire (ITI) de Médecine de Précision de Strasbourg, Strasbourg, France.; Laboratoire d'Immunologie, Plateau Technique de Biologie, Pôle de Biologie, Nouvel Hôpital Civil, Strasbourg, France., Rao AP; Manipal Hospital, Bengaluru, India., Peltzer N; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany.; Center for Molecular Medicine Cologne (CMMC), University of Cologne, Cologne, Germany.; Department of Translational Genomics, University of Cologne, Cologne, Germany., Walczak H; Cologne Excellence Cluster on Cellular Stress Responses in Aging-Associated Diseases (CECAD), University of Cologne, Cologne, Germany.; Institute of Biochemistry I, Medical Faculty, University of Cologne, Cologne, Germany.; Centre for Cell Death, Cancer, and Inflammation, UCL Cancer Institute, University College, London, UK., Lalaoui N; The Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria, Australia. najoua.lalaoui@petermac.org.; Peter MacCallum Cancer Centre, Melbourne, Victoria, Australia. najoua.lalaoui@petermac.org.; Sir Peter MacCallum Department of Oncology, University of Melbourne, Parkville, Victoria, Australia. najoua.lalaoui@petermac.org., Aksentijevich I; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA. aksentii@mail.nih.gov., Kastner DL; National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA. dan.kastner@nih.gov.

Publikováno v: Nature immunology [Nat Immunol] 2024 May; Vol. 25 (5), pp. 764-777. Date of Electronic Publication: 2024 Apr 12.