Genetic defects in Chediak-Higashi syndrome and the beige mouse, J Clin Immunol, vol.18, pp.97-105, 1998. ,
The Chediak-Higashi syndrome: studies in four patients and a review of the literature, Medicine (Baltimore), vol.51, pp.247-280, 1972. ,
Chediak-Higashi syndrome, Curr Opin Hematol, vol.15, pp.22-29, 2008. ,
The Chediak-Higashi syndrome: cytoplasmic sequestration in circulating leukocytes, Blood, vol.29, pp.435-451, 1967. ,
The giant organelles in beige and Chediak-Higashi fibroblasts are derived from late endosomes and mature lysosomes, J Exp Med, vol.178, pp.1845-1856, 1993. ,
Defective lysosomal exocytosis and plasma membrane repair in Chediak-Higashi/beige cells, Proc Natl Acad Sci, vol.101, pp.16795-16800, 2004. ,
The Chediak-Higashi syndrome: formation of giant melanosomes and the basis of hypopigmentation, J Invest Dermatol, vol.49, pp.575-581, 1967. ,
A human pigmentary dilution based on a heritable subcellular structural defect -the Chediak-Higashi syndrome, J Invest Dermatol, vol.50, pp.9-18, 1968. ,
Evidence that abnormal platelet functions in human Chediak-Higashi syndrome are the result of a lack of dense bodies, Am J Pathol, vol.111, pp.307-314, 1983. ,
Loss of cytotoxic T lymphocyte function in Chediak-Higashi syndrome arise from a secretory defect that prevents lytic granule exocytosis, J Immunol, vol.154, pp.6122-6131, 1995. ,
Secretory lysosome biogenesis in cytotoxic T lymphocytes from normal and Chediak Higashi syndrome patients, Traffic, vol.1, pp.435-444, 2000. ,
Primary hemophagocytic syndromes point to a direct link between lymphocyte cytotoxicity and homeostasis, Immunol Rev, vol.203, pp.165-179, 2005. ,
Molecular mechanisms of biogenesis and exocytosis of cytotoxic granules, Nat Rev Immunol, vol.11, pp.568-579, 2010. ,
URL : https://hal.archives-ouvertes.fr/inserm-02440303
Identification of the homologous beige and Chediak-Higashi syndrome genes, Nature, vol.382, pp.262-265, 1996. ,
Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome, Nat Genet, vol.14, pp.307-311, 1996. ,
Identification of the murine beige gene by YAC complementation and positional cloning, Nat Genet, vol.13, pp.303-308, 1996. ,
Crystal structure of the BEACH domain reveals an unusual fold and extensive association with a novel PH domain, EMBO J, vol.21, pp.4785-4795, 2002. ,
A concanavalin A-like lectin domain in the CHS1/LYST protein, shared by members of the BEACH family, Bioinformatics, vol.25, pp.1219-1222, 2009. ,
URL : https://hal.archives-ouvertes.fr/hal-00383218
Crystal structure of the PH-BEACH domains of human LRBA/BGL, Biochemistry, vol.43, pp.14873-14880, 2004. ,
Molecular genetic dissection of mouse unconventional myosin-VA: tail region mutations, Genetics, vol.148, pp.1963-1972, 1998. ,
Fine structural studies of leukocytes from patients and heterozygotes with the Chediak-Higashi syndrome, Blood, vol.33, pp.527-540, 1969. ,
Deficient peptide loading and MHC class II endosomal sorting in a human genetic immunodeficiency disease: the Chediak-Higashi syndrome, J Cell Biol, vol.141, pp.1121-1134, 1998. ,
The enlarged lysosomes in beige j cells result from decreased lysosome fission and not increased lysosome fusion, Traffic, vol.13, pp.108-119, 2012. ,
Secretory cytotoxic granule maturation and exocytosis require the effector protein hMunc13-4, Nat Immunol, vol.8, pp.257-267, 2007. ,
URL : https://hal.archives-ouvertes.fr/inserm-02440339
The emerging shape of the ESCRT machinery, Nat Rev Mol Cell Biol, vol.8, pp.355-368, 2007. ,
,
The CryoCapsule: simplifying correlative light to electron microscopy, Traffic, vol.15, pp.700-716, 2014. ,
URL : https://hal.archives-ouvertes.fr/hal-01712232
Terminal transport of lytic granules to the immune synapse is mediated by the kinesin-1/Slp3/Rab27a complex, Blood, vol.119, pp.3879-3889, 2012. ,
URL : https://hal.archives-ouvertes.fr/hal-02084704
The Beige/Chediak-Higashi syndrome gene encodes a widely expressed cytosolic protein, J Biol Chem, vol.272, pp.29790-29794, 1997. ,
Lysosomes: fusion and function, Nat Rev Mol Cell Biol, vol.8, pp.622-632, 2007. ,
Antagonistic control of lysosomal fusion by Rab14 and the Lyst-related protein LvsB, Traffic, vol.14, pp.599-609, 2013. ,
The Chediak-Higashi syndrome. Evidence that defective leukotaxis is primarily due to an impediment by giant granules, Am J Pathol, vol.92, pp.745-753, 1978. ,
Cellular defects in Chediak-Higashi syndrome correlate with the molecular genotype and clinical phenotype, J Invest Dermatol, vol.127, pp.2674-2677, 2007. ,
Natural killer cell lytic granule secretion occurs through a pervasive actin network at the immune synapse, PLoS Biol, vol.9, p.1001151, 2011. ,
Neurobeachin regulates neurotransmitter receptor trafficking to synapses, J Cell Biol, vol.200, pp.61-80, 2013. ,
Protein truncation test of LYST reveals heterogenous mutations in patients with Chediak-Higashi syndrome, Blood, vol.95, pp.979-983, 2000. ,
A newly identified isoform of Slp2a associates with Rab27a in cytotoxic T cells and participates to cytotoxic granule secretion, Blood, vol.112, pp.5052-5062, 2008. ,
URL : https://hal.archives-ouvertes.fr/inserm-02440327
Sensitive and viable identification of antigen-specific CD8+ T cells by a flow cytometric assay for degranulation, J Immunol Methods, vol.281, pp.65-78, 2003. ,