Hemophagocytic lymphohistiocytosis caused by dominant-negative mutations in STXBP2 that inhibit SNARE-mediated membrane fusion
Copyright policy )Hemophagocytic lymphohistiocytosis caused by dominant-negative mutations in STXBP2 that inhibit SNARE-mediated membrane fusion
Key Points Monoallelic STXBP2 mutations affecting codon 65 impair lymphocyte cytotoxicity and contribute to hemophagocytic lymphohistiocytosis. Munc18-2R65Q/W mutant proteins function in a dominant-negative manner to impair membrane fusion and arrest SNARE-complex assembly.
- St. Jude Children's Research Hospital United States
- University of Pennsylvania United States
- University System of Ohio United States
- Cincinnati Children's Hospital Medical Center United States
- University of Cincinnati United States
Adult, Male, Models, Molecular, Heterozygote, Infant, Middle Aged, Membrane Fusion, Models, Biological, Lymphohistiocytosis, Hemophagocytic, Killer Cells, Natural, Munc18 Proteins, Amino Acid Substitution, Child, Preschool, Humans, Female, Mutant Proteins, Child, Codon, Genes, Dominant, HeLa Cells
Adult, Male, Models, Molecular, Heterozygote, Infant, Middle Aged, Membrane Fusion, Models, Biological, Lymphohistiocytosis, Hemophagocytic, Killer Cells, Natural, Munc18 Proteins, Amino Acid Substitution, Child, Preschool, Humans, Female, Mutant Proteins, Child, Codon, Genes, Dominant, HeLa Cells
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