Article
Munc13-4 is an effector of rab27a and controls secretion of lysosomes in hematopoietic cells.
Molecular biology of the cell - 1 Feb 2005
Neeft Maaike, Wieffer Marnix, de Jong Arjan S, Negroiu Gabriela, Metz Corina H G, van Loon Alexander, Griffith Janice, Krijgsveld Jeroen, Wulffraat Nico, Koch Henriette, Heck Albert J R, Brose Nils, Kleijmeer Monique, van der Sluijs Peter
Abstract excerpt
Griscelli syndrome type 2 (GS2) is a genetic disorder in which patients exhibit life-threatening defects of cytotoxic T lymphocytes (CTLs) whose lytic granules fail to dock on the plasma membrane and therefore do not release their contents. The disease is caused by the absence of functional rab27a, but how rab27a controls secretion of lytic granule contents remains elusive. Mutations in Munc13-4 cause familial...
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