Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3).
By Jérôme Feldmann, I. Callebaut, G. Raposo, S. Certain, D. Bacq, C. Dumont, N. Lambert, M. Ouachée-Chardin, G. Chédeville, H. Tamary and 6 more. Cell, 2003
907 citations recorded by the source corpus.
Subfields: Genetics, Hematology, Physiology
View Paper: https://www.semanticscholar.org/paper/92691bc356033dc459cb25f37141aec3a6a93c62
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Citations in the corpus
- Confirmed efficacy of etoposide and dexamethasone in HLH treatment: long-term results of the cooperative HLH-2004 study. (2017, neutral): “HSCT during the first 2 mo (% of all) 15 (4) 12 (7) 3 (1) 12 (5) 3 (2) 3 (1)”
- Perforin-mediated target-cell death and immune homeostasis (2006, background): “A third FHL-associated locus was reported at chromosome 17q25, which mapped to the UNC13D (unc-13 homologue D) gene encoding Munc13-4 (Ref”
- Horror autoinflammaticus: the molecular pathophysiology of autoinflammatory disease (*). (2009, background): “These include PRF1, which encodes perforin, a soluble pore-forming protein that permeabilizes the target cell membrane (230); UNC13D, which encodes Munc13-4, a protein essential for cytolytic granule fusion with the cell membrane during degranulation (231); and STX11, encoding syntaxin 11, a member ”
- Familial and acquired hemophagocytic lymphohistiocytosis (2006, background): “HLH in Chédiak-Higashi syndrome 1, Griscelli syndrome 2 as well as X-linked proliferative syndrome also responds to etoposide-containing regimens [61], but as in FHLH, the cure can only be achieved with stem cell transplantation.”
- Formation and function of the lytic NK-cell immunological synapse (2008, background): “Initially defined in CTLs, the lytic granules in MUNC13-4-deficient cells polarize towards the synapse and dock at the plasma membrane but do not fuse with i”
- HLH‐2004: Diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis (2007, background): “In 2003, it was shown that mutations in the geneUNC13D (17q25) also cause FHL [40].”