The topology, structure and PE interaction of LITAF underpin a Charcot-Marie-Tooth disease type 1C

Autor: Ho, AK, Wagstaff, JL, Manna, PT, Wartosch, L, Qamar, S, Garman, EF, Freund, SMV, Roberts, RC

BACKGROUND: Mutations in Lipopolysaccharide-induced tumour necrosis factor-α factor (LITAF) cause the autosomal dominant inherited peripheral neuropathy, Charcot-Marie-Tooth disease type 1C (CMT1C). LITAF encodes a 17 kDa protein containing an N-ter

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::69928baec7f2982d797822a8e1f5a94a

Targeting CD38 with monoclonal antibodies disrupts key survival pathways in paediatric Burkitt's lymphoma malignant B cells.

Autor: Kläsener K; Department of Rheumatology and Clinical Immunology University Medical Center Freiburg Freiburg Germany.; Signaling Research Centers BIOSS and CIBSS University of Freiburg Freiburg Germany., Herrmann N; Department of Rheumatology and Clinical Immunology University Medical Center Freiburg Freiburg Germany.; Department of Rheumatology and Inflammation Research, Institute of Medicine, Sahlgrenska Academy University of Gothenburg Gothenburg Sweden., Håversen L; Department of Molecular and Clinical Medicine, Institute of Medicine, Sahlgrenska Academy University of Gothenburg Gothenburg Sweden., Sundell T; Department of Rheumatology and Inflammation Research, Institute of Medicine, Sahlgrenska Academy University of Gothenburg Gothenburg Sweden., Sundqvist M; Department of Rheumatology and Inflammation Research, Institute of Medicine, Sahlgrenska Academy University of Gothenburg Gothenburg Sweden., Lundqvist C; Department of Rheumatology and Inflammation Research, Institute of Medicine, Sahlgrenska Academy University of Gothenburg Gothenburg Sweden., Manna PT; Department of Physiology, Institute of Neuroscience and Physiology, Sahlgrenska Academy University of Gothenburg Gothenburg Sweden., Jonsson CA; Department of Rheumatology and Inflammation Research, Institute of Medicine, Sahlgrenska Academy University of Gothenburg Gothenburg Sweden., Visentini M; Department of Translational and Precision Medicine Sapienza University of Rome Rome Italy., Ljung Sass D; Department of Pediatric Hematology and Oncology, The Queen Silvia's Hospital for Children and Adolescents University of Gothenburg Gothenburg Sweden., McGrath S; Department of Rheumatology and Inflammation Research, Institute of Medicine, Sahlgrenska Academy University of Gothenburg Gothenburg Sweden., Grimstad K; Department of Rheumatology and Inflammation Research, Institute of Medicine, Sahlgrenska Academy University of Gothenburg Gothenburg Sweden.; School of Bioscience University of Skövde Skövde Sweden., Aranburu A; Department of Rheumatology and Inflammation Research, Institute of Medicine, Sahlgrenska Academy University of Gothenburg Gothenburg Sweden., Mellgren K; Department of Pediatric Hematology and Oncology, The Queen Silvia's Hospital for Children and Adolescents University of Gothenburg Gothenburg Sweden., Fogelstrand L; Department of Laboratory Medicine, Institute of Biomedicine, Sahlgrenska Academy University of Gothenburg Gothenburg Sweden.; Department of Clinical Chemistry Sahlgrenska University Hospital Gothenburg Sweden., Forsman H; Department of Rheumatology and Inflammation Research, Institute of Medicine, Sahlgrenska Academy University of Gothenburg Gothenburg Sweden., Ekwall O; Department of Rheumatology and Inflammation Research, Institute of Medicine, Sahlgrenska Academy University of Gothenburg Gothenburg Sweden.; Department of Pediatrics, Institute of Clinical Sciences, Sahlgrenska Academy University of Gothenburg Gothenburg Sweden., Borén J; Department of Molecular and Clinical Medicine, Institute of Medicine, Sahlgrenska Academy University of Gothenburg Gothenburg Sweden., Gjertsson I; Department of Rheumatology and Inflammation Research, Institute of Medicine, Sahlgrenska Academy University of Gothenburg Gothenburg Sweden.; Department of Rheumatology, Region Västra Götaland Sahlgrenska University Hospital Gothenburg Sweden., Reth M; Department of Rheumatology and Clinical Immunology University Medical Center Freiburg Freiburg Germany.; Signaling Research Centers BIOSS and CIBSS University of Freiburg Freiburg Germany., Mårtensson IL; Department of Rheumatology and Inflammation Research, Institute of Medicine, Sahlgrenska Academy University of Gothenburg Gothenburg Sweden., Camponeschi A; Department of Rheumatology and Inflammation Research, Institute of Medicine, Sahlgrenska Academy University of Gothenburg Gothenburg Sweden.; Department of Clinical Immunology and Transfusion Medicine, Region Västra Götaland Sahlgrenska University Hospital Gothenburg Sweden.

Publikováno v: Clinical & translational immunology [Clin Transl Immunology] 2024 Oct 03; Vol. 13 (10), pp. e70011. Date of Electronic Publication: 2024 Oct 03 (Print Publication: 2024).

Patients and mice with deficiency in the SNARE protein SYNTAXIN-11 have a secondary B cell defect.

Autor: Kögl T; Institute for Immunology, Center for Microbiology and Hygiene, Medical Center-University of Freiburg , Freiburg, Germany.; Faculty of Medicine, Institute for Immunodeficiency, Medical Center-University of Freiburg, Freiburg, Germany., Chang HF; Cellular Neurophysiology, Center for Integrative Physiology and Molecular Medicine, Saarland University , Homburg, Germany., Staniek J; Faculty of Medicine, Center for Chronic Immunodeficiency, Medical Center-University of Freiburg, Freiburg, Germany.; Department of Rheumatology and Clinical Immunology, Faculty of Medicine, Medical Center- University of Freiburg, Freiburg, Germany., Chiang SCC; Division of Bone Marrow Transplantation and Immune Deficiency, and Department of Pediatrics, Cincinnati Children's Hospital Medical Center, University of Cincinnati, Cincinnati, OH, USA.; Department of Medicine, Center for Hematology and Regenerative Medicine Huddinge, Karolinska Institute, Karolinska University Hospital Huddinge, Stockholm, Sweden., Thoulass G; Faculty of Medicine, Institute for Immunodeficiency, Medical Center-University of Freiburg, Freiburg, Germany.; Faculty of Medicine, Center for Chronic Immunodeficiency, Medical Center-University of Freiburg, Freiburg, Germany.; Faculty of Biology, Albert-Ludwigs-University of Freiburg, Freiburg, Germany., Lao J; Faculty of Medicine, Institute for Immunodeficiency, Medical Center-University of Freiburg, Freiburg, Germany.; Faculty of Medicine, Center for Chronic Immunodeficiency, Medical Center-University of Freiburg, Freiburg, Germany.; Faculty of Biology, Albert-Ludwigs-University of Freiburg, Freiburg, Germany., Weißert K; Faculty of Medicine, Institute for Immunodeficiency, Medical Center-University of Freiburg, Freiburg, Germany.; Faculty of Medicine, Center for Chronic Immunodeficiency, Medical Center-University of Freiburg, Freiburg, Germany., Dettmer-Monaco V; Faculty of Medicine, Center for Chronic Immunodeficiency, Medical Center-University of Freiburg, Freiburg, Germany.; Faculty of Medicine, Institute for Transfusion Medicine and Gene Therapy-University of Freiburg, Freiburg, Germany., Geiger K; Faculty of Medicine, Center for Chronic Immunodeficiency, Medical Center-University of Freiburg, Freiburg, Germany.; Faculty of Biology, Albert-Ludwigs-University of Freiburg, Freiburg, Germany.; Faculty of Medicine, Institute for Transfusion Medicine and Gene Therapy-University of Freiburg, Freiburg, Germany., Manna PT; Department of Neuroscience and Physiology, University of Gothenburg, Gothenburg, Sweden., Beziat V; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris-Cité , Paris, France.; St. Giles Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, The Rockefeller University, New York, NY, USA., Momenilandi M; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, INSERM, Necker Hospital for Sick Children, Paris, France.; Imagine Institute, University of Paris-Cité , Paris, France., Tu SM; Cellular Neurophysiology, Center for Integrative Physiology and Molecular Medicine, Saarland University , Homburg, Germany., Keppler SJ; Division of Rheumatology and Immunology, Medical University of Graz, Graz, Austria., Pattu V; Cellular Neurophysiology, Center for Integrative Physiology and Molecular Medicine, Saarland University , Homburg, Germany., Wolf P; Department of Urology, Faculty of Medicine, Medical Center-University of Freiburg, Freiburg, Germany., Kupferschmid L; Institute of Medical Microbiology and Hygiene, University Medical Center , Freiburg, Germany., Tholen S; Department of Pathology, Institute of Surgical Pathology, University Medical Center, University of Freiburg, Freiburg, Germany., Covill LE; Department of Medicine, Center for Hematology and Regenerative Medicine Huddinge, Karolinska Institute, Karolinska University Hospital Huddinge, Stockholm, Sweden., Ebert K; Institute for Immunology, Center for Microbiology and Hygiene, Medical Center-University of Freiburg , Freiburg, Germany., Straub T; Institute for Immunology, Center for Microbiology and Hygiene, Medical Center-University of Freiburg , Freiburg, Germany., Groß M; Faculty of Medicine, Institute for Immunodeficiency, Medical Center-University of Freiburg, Freiburg, Germany.; Faculty of Medicine, Center for Chronic Immunodeficiency, Medical Center-University of Freiburg, Freiburg, Germany., Gather R; Faculty of Medicine, Institute for Immunodeficiency, Medical Center-University of Freiburg, Freiburg, Germany.; Faculty of Medicine, Center for Chronic Immunodeficiency, Medical Center-University of Freiburg, Freiburg, Germany., Engel H; Institute for Immunology, Center for Microbiology and Hygiene, Medical Center-University of Freiburg , Freiburg, Germany., Salzer U; Faculty of Medicine, Center for Chronic Immunodeficiency, Medical Center-University of Freiburg, Freiburg, Germany.; Department of Rheumatology and Clinical Immunology, Faculty of Medicine, Medical Center- University of Freiburg, Freiburg, Germany., Schell C; Department of Pathology, Institute of Surgical Pathology, University Medical Center, University of Freiburg, Freiburg, Germany., Maier S; Division of Pediatric Stem Cell Transplantation and Immunology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Lehmberg K; Division of Pediatric Stem Cell Transplantation and Immunology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Cornu TI; Faculty of Medicine, Center for Chronic Immunodeficiency, Medical Center-University of Freiburg, Freiburg, Germany.; Faculty of Medicine, Institute for Transfusion Medicine and Gene Therapy-University of Freiburg, Freiburg, Germany., Pircher H; Institute for Immunology, Center for Microbiology and Hygiene, Medical Center-University of Freiburg , Freiburg, Germany., Shahrooei M; Department of Microbiology, Immunology, and Transplantation, Clinical and Diagnostic Immunology, KU Leuven, Leuven, Belgium.; Dr. Shahrooei Laboratory, Tehran University of Medical Sciences, Tehran, Iran., Parvaneh N; Division of Allergy and Clinical Immunology, Department of Pediatrics, Tehran University of Medical Sciences, Tehran, Iran.; Research Center for Immunodeficiencies, Tehran University of Medical Sciences , Tehran, Iran., Elling R; Faculty of Medicine, Center for Chronic Immunodeficiency, Medical Center-University of Freiburg, Freiburg, Germany.; Faculty for Medicine, Center for Pediatrics and Adolescent Medicine, Medical Center-University of Freiburg, Freiburg, Germany., Rizzi M; Faculty of Medicine, Center for Chronic Immunodeficiency, Medical Center-University of Freiburg, Freiburg, Germany.; Department of Rheumatology and Clinical Immunology, Faculty of Medicine, Medical Center- University of Freiburg, Freiburg, Germany.; Division of Clinical and Experimental Immunology, Institute of Immunology, Center for Pathophysiology, Infectiology and Immunology, Medical University of Vienna, Vienna, Austria.; Centre for Integrative Biological Signalling Studies, University of Freiburg , Freiburg, Germany.; Faculty of Medicine, Clinical Immunology, Medical Center-University of Freiburg, Freiburg, Germany., Bryceson YT; Department of Medicine, Center for Hematology and Regenerative Medicine Huddinge, Karolinska Institute, Karolinska University Hospital Huddinge, Stockholm, Sweden.; Division of Clinical Immunology and Transfusion Medicine, Karolinska University Hospital Huddinge, Stockholm, Sweden.; Broegelmann Laboratory, Department of Clinical Sciences, University of Bergen, Bergen, Norway., Ehl S; Faculty of Medicine, Institute for Immunodeficiency, Medical Center-University of Freiburg, Freiburg, Germany.; Faculty of Medicine, Center for Chronic Immunodeficiency, Medical Center-University of Freiburg, Freiburg, Germany., Aichele P; Faculty of Medicine, Institute for Immunodeficiency, Medical Center-University of Freiburg, Freiburg, Germany.; Faculty of Medicine, Center for Chronic Immunodeficiency, Medical Center-University of Freiburg, Freiburg, Germany., Ammann S; Faculty of Medicine, Institute for Immunodeficiency, Medical Center-University of Freiburg, Freiburg, Germany.; Faculty of Medicine, Center for Chronic Immunodeficiency, Medical Center-University of Freiburg, Freiburg, Germany.

Publikováno v: The Journal of experimental medicine [J Exp Med] 2024 Jul 01; Vol. 221 (7). Date of Electronic Publication: 2024 May 09.

Endosomal vesicle fusion machinery is involved with the contractile vacuole in Dictyostelium discoideum.

Autor: Manna PT; Institute of Neuroscience and Physiology, Department of Physiology, University of Gothenburg, Gothenburg, Box 430, 405 30, Sweden.; Division of Infectious Diseases, Department of Medicine, University of Alberta, Edmonton, Alberta, Alberta, T6G 2G3, Canada., Barlow LD; Department of Biological Sciences, University of Alberta, Edmonton, Alberta, T6G 2E9, Canada.; Division of Biological Chemistry and Drug Discovery, School of Life, Sciences, University of Dundee, Dundee DD1 5EH, UK., Ramirez-Macias I; Division of Infectious Diseases, Department of Medicine, University of Alberta, Edmonton, Alberta, Alberta, T6G 2G3, Canada.; Microbiology Unit, University Hospital Virgen de las Nieves, Granada 18014, Spain.; Instituto de Investigación Biosanitaria ibs, Granada, 18012, Spain., Herman EK; Division of Infectious Diseases, Department of Medicine, University of Alberta, Edmonton, Alberta, Alberta, T6G 2G3, Canada.; Department of Agricultural, Food and Nutritional Science, Faculty of Agricultural, Life and Environmental Sciences, University of Alberta, Edmonton, Alberta, T6G 1C9, Canada., Dacks JB; Division of Infectious Diseases, Department of Medicine, University of Alberta, Edmonton, Alberta, Alberta, T6G 2G3, Canada.; Department of Biological Sciences, University of Alberta, Edmonton, Alberta, T6G 2E9, Canada.; Centre for Life's Origins and Evolution, Department of Genetics, Evolution, and Environment, University of College London, London WC1E 6BT, UK.

Publikováno v: Journal of cell science [J Cell Sci] 2023 Jan 15; Vol. 136 (2). Date of Electronic Publication: 2023 Jan 18.

Human CD38 regulates B cell antigen receptor dynamic organization in normal and malignant B cells.

Autor: Camponeschi A; Department of Rheumatology and Inflammation Research, Institute of Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden., Kläsener K; Biology III, Faculty of Biology, University of Freiburg, Freiburg, Germany.; Signalling Research Centres Biological Signalling Studies and Centre for Integrative Biological Signalling Studies, University of Freiburg, Freiburg, Germany., Sundell T; Department of Rheumatology and Inflammation Research, Institute of Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden., Lundqvist C; Department of Rheumatology and Inflammation Research, Institute of Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden., Manna PT; Department of Physiology, Institute of Neuroscience and Physiology, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden., Ayoubzadeh N; Department of Rheumatology and Inflammation Research, Institute of Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden., Sundqvist M; Department of Rheumatology and Inflammation Research, Institute of Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden., Thorarinsdottir K; Department of Rheumatology and Inflammation Research, Institute of Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden., Gatto M; Department of Rheumatology and Inflammation Research, Institute of Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.; Unit of Rheumatology, Department of Medicine, University of Padova, Padua, Italy., Visentini M; Department of Translational and Precision Medicine, Sapienza University of Rome, Rome, Italy., Önnheim K; Department of Rheumatology and Inflammation Research, Institute of Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden., Aranburu A; Department of Rheumatology and Inflammation Research, Institute of Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden., Forsman H; Department of Rheumatology and Inflammation Research, Institute of Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden., Ekwall O; Department of Rheumatology and Inflammation Research, Institute of Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.; Department of Pediatrics, Institute of Clinical Sciences, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden., Fogelstrand L; Department of Laboratory Medicine, Institute of Biomedicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.; Department of Clinical Chemistry, Sahlgrenska University Hospital, Gothenburg, Sweden., Gjertsson I; Department of Rheumatology and Inflammation Research, Institute of Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden., Reth M; Biology III, Faculty of Biology, University of Freiburg, Freiburg, Germany.; Signalling Research Centres Biological Signalling Studies and Centre for Integrative Biological Signalling Studies, University of Freiburg, Freiburg, Germany., Mårtensson IL; Department of Rheumatology and Inflammation Research, Institute of Medicine, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden.

Publikováno v: The Journal of experimental medicine [J Exp Med] 2022 Sep 05; Vol. 219 (9). Date of Electronic Publication: 2022 Jul 12.