Alternative <i>UNC13D</i> Promoter Encodes a Functional Munc13-4 Isoform Predominantly Expressed in Lymphocytes and Platelets.

Galgano, Donatella; Soheili, Tayebeh; Voss, Matthias; Torralba-Raga, Lamberto; Tesi, Bianca; Cichocki, Frank; Andre, Isabelle; Rettig, Jens; Cavazzana, Marina; Bryceson, Yenan

Alternative UNC13D Promoter Encodes a Functional Munc13-4 Isoform Predominantly Expressed in Lymphocytes and Platelets.

Galgano, Donatella; Soheili, Tayebeh; Voss, Matthias; Torralba-Raga, Lamberto; Tesi, Bianca; Cichocki, Frank; Andre, Isabelle; Rettig, Jens; Cavazzana, Marina; Bryceson, Yenan.

Affiliation

Galgano D; Department of Medicine, Center for Hematology and Regenerative Medicine, Karolinska Institutet, Stockholm, Sweden.
Soheili T; Human Lymphohematopoiesis Laboratory, INSERM UMR 1163, IMAGINE Institute, Paris, France.
Voss M; Department of Medicine, Center for Hematology and Regenerative Medicine, Karolinska Institutet, Stockholm, Sweden.
Torralba-Raga L; Department of Medicine, Center for Hematology and Regenerative Medicine, Karolinska Institutet, Stockholm, Sweden.
Tesi B; Department of Clinical Genetics, Karolinska University Hospital, Stockholm, Sweden.
Cichocki F; Department of Molecular Medicine and Surgery, Center for Molecular Medicine, Karolinska Institutet, Stockholm, Sweden.
Andre I; Division of Hematology, Oncology and Transplantation, University of Minnesota, Minneapolis, MN, United States.
Rettig J; Human Lymphohematopoiesis Laboratory, INSERM UMR 1163, IMAGINE Institute, Paris, France.
Cavazzana M; Paris Descartes-Sorbonne Paris Cité University, Imagine Institute, Paris, France.
Bryceson Y; Cellular Neurophysiology Laboratory, Center for Integrative Physiology and Molecular Medicine, Saarland University, Homburg, Germany.

Front Immunol ; 11: 1154, 2020.

Article in En | MEDLINE | ID: mdl-32582217

Subject(s)

Blood Platelets/metabolism; Lymphocytes/metabolism; Membrane Proteins/genetics; Membrane Proteins/metabolism; Blood Platelets/immunology; Cells, Cultured; Humans; Lymphocytes/immunology; Lymphohistiocytosis, Hemophagocytic/genetics; Lymphohistiocytosis, Hemophagocytic/immunology; Lymphohistiocytosis, Hemophagocytic/metabolism; Mutation; Promoter Regions, Genetic; Protein Isoforms/genetics; T-Lymphocytes, Cytotoxic/immunology; T-Lymphocytes, Cytotoxic/metabolism

Key words

UNC13D; alternative intronic promoter/isoform; familial hemophagocytic lymphohistiocytosis type 3; intronic mutation; lymphocyte cytotoxicity; primary immunodeficiency

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Blood Platelets / Lymphocytes / Membrane Proteins Limits: Humans Language: En Journal: Front Immunol Year: 2020 Type: Article Affiliation country: Sweden

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