International audienceAutosomal recessive mutations in genes required for cytotoxicity are causative of a life-threatening, early-onset hyperinflammatory syndrome termed familial hemophagocytic lymphohistiocytosis (FHL). Mutations in UNC13D cause FHL type 3. UNC13D encodes Munc13-4, a member of the Unc13 protein family which control SNARE complex formation and vesicle fusion. We have previously identified FHL3-associated mutations in the first intron of UNC13D which control transcription from an alternative transcriptional start site. Using isoform specific antibodies, we demonstrate that this alternative Munc13-4 isoform with a unique N-terminus is preferentially expressed in human lymphocytes and platelets, as compared to the conventional...
AbstractSeveral rare human diseases have shed important light on the secretory pathway required for ...
Exocytosis is a fundamental cellular process in which contents stored in vesicles are released out o...
Autoimmune lymphoproliferative syndrome (ALPS) is caused by genetic defects decreasing Fas function ...
International audienceAutosomal recessive mutations in genes required for cytotoxicity are causative...
BACKGROUND: UNC13D, encoding the protein munc13-4, is essential in intracellular trafficking and exo...
Item does not contain fulltextMutations in UNC13D cause the severe immune disorder familial haemopha...
AbstractSecretion of cytolytic granules content at the immunological synapse is a highly regulated p...
Cytotoxic T lymphocytes (CTLs) kill target cells through the polarized release of lytic molecules fr...
Patients with mutations in the UNC13D gene (coding for Munc13-4 protein) suffer from familial hemoph...
Background: Familial hemophagocytic lymphohistiocytosis (FHL) is a rare autosomal recessive immune ...
BACKGROUND: Experimental models have demonstrated that immune surveillance by cytotoxic lymphocytes ...
International audienceFamilial hemophagocytic lymphohistiocytosis (FHL) is a genetically heterogeneo...
Familial haemophagocytic lymphohistiocytosis (FHL) is a genetically heterogeneous disorder character...
Familial haemophagocytic lymphohistiocytosis (FHL) is a genetically heterogeneous disorder character...
International audienceCytotoxic T lymphocytes (CTLs) kill target cells through polarized release of ...
AbstractSeveral rare human diseases have shed important light on the secretory pathway required for ...
Exocytosis is a fundamental cellular process in which contents stored in vesicles are released out o...
Autoimmune lymphoproliferative syndrome (ALPS) is caused by genetic defects decreasing Fas function ...
International audienceAutosomal recessive mutations in genes required for cytotoxicity are causative...
BACKGROUND: UNC13D, encoding the protein munc13-4, is essential in intracellular trafficking and exo...
Item does not contain fulltextMutations in UNC13D cause the severe immune disorder familial haemopha...
AbstractSecretion of cytolytic granules content at the immunological synapse is a highly regulated p...
Cytotoxic T lymphocytes (CTLs) kill target cells through the polarized release of lytic molecules fr...
Patients with mutations in the UNC13D gene (coding for Munc13-4 protein) suffer from familial hemoph...
Background: Familial hemophagocytic lymphohistiocytosis (FHL) is a rare autosomal recessive immune ...
BACKGROUND: Experimental models have demonstrated that immune surveillance by cytotoxic lymphocytes ...
International audienceFamilial hemophagocytic lymphohistiocytosis (FHL) is a genetically heterogeneo...
Familial haemophagocytic lymphohistiocytosis (FHL) is a genetically heterogeneous disorder character...
Familial haemophagocytic lymphohistiocytosis (FHL) is a genetically heterogeneous disorder character...
International audienceCytotoxic T lymphocytes (CTLs) kill target cells through polarized release of ...
AbstractSeveral rare human diseases have shed important light on the secretory pathway required for ...
Exocytosis is a fundamental cellular process in which contents stored in vesicles are released out o...
Autoimmune lymphoproliferative syndrome (ALPS) is caused by genetic defects decreasing Fas function ...