Patients with Griscelli syndrome and normal pigmentation identify RAB27A mutations that selectively disrupt MUNC13-4 binding
Open Access
- 1 May 2015
- journal article
- research article
- Published by Elsevier in Journal of Allergy and Clinical Immunology
- Vol. 135 (5) , 1310-1318.e1
Abstract
No abstract availableKeywords
This publication has 42 references indexed in Scilit:
- Chemoimmunotherapy for hemophagocytic lymphohistiocytosis: long-term results of the HLH-94 treatment protocolBlood, 2011
- Cellular and clinical report of new Griscelli syndrome type III casesPigment Cell & Melanoma Research, 2011
- A method and server for predicting damaging missense mutationsNature Methods, 2010
- Familial Hemophagocytic Lymphohistiocytosis Type 5 (FHL-5) Is Caused by Mutations in Munc18-2 and Impaired Binding to Syntaxin 11The American Journal of Human Genetics, 2009
- Elucidation of Rab27 Recruitment by Its Effectors: Structure of Rab27a Bound to Exophilin4/Slp2-aStructure, 2008
- Slp1 and Slp2‐a Localize to the Plasma Membrane of CTL and Contribute to Secretion from the Immunological SynapseTraffic, 2008
- A single amino acid change, A91V, leads to conformational changes that can impair processing to the active form of perforinBlood, 2005
- Munc13-4 Is Essential for Cytolytic Granules Fusion and Is Mutated in a Form of Familial Hemophagocytic Lymphohistiocytosis (FHL3)Cell, 2003
- Biochemical and functional characterization of Rab27a mutations occurring in Griscelli syndrome patientsBlood, 2003
- A Family of Rab27-binding ProteinsJournal of Biological Chemistry, 2002