Associated Papers
Griscelli syndrome: Erdheim-Chester disease-like local presentation progressing to accelerated phase.
Solakoğlu T et al.
The Turkish Journal of Pediatrics, 2024
Patients with Griscelli syndrome and normal pigmentation identify RAB27A mutations that selectively disrupt MUNC13-4 binding.
Cetica V et al.
The Journal of Allergy and Clinical Immunology, 2015
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
Functional characterization of two RAB27A missense mutations found in Griscelli syndrome type 2.
Ohbayashi N et al.
Pigment Cell & Melanoma Research, 2010
Clinical presentation of Griscelli syndrome type 2 and spectrum of RAB27A mutations.
Meeths M et al.
Pediatric Blood & Cancer, 2010
Griscelli syndrome: a model system to study vesicular trafficking.
Van Gele M et al.
Pigment Cell & Melanoma Research, 2009
Structural basis for the exclusive specificity of Slac2-a/melanophilin for the Rab27 GTPases.
Kukimoto-Niino M et al.
Structure (london, England : 1993), 2008
Griscelli syndrome-type 2 in twin siblings: case report and update on RAB27A human mutations and gene structure.
Meschede IP et al.
Brazilian Journal of Medical and Biological Research = Revista Brasileira De Pesquisas Medicas E Biologica, 2008
A novel missense mutation (G43S) in the switch I region of Rab27A causing Griscelli syndrome.
Westbroek W et al.
Molecular Genetics and Metabolism, 2008
Primary hemophagocytic syndromes point to a direct link between lymphocyte cytotoxicity and homeostasis.
Ménasché G et al.
Immunological Reviews, 2005
Versatile role of Rab27 in membrane trafficking: focus on the Rab27 effector families.
Fukuda M
Journal of Biochemistry, 2005
Biochemical and functional characterization of Rab27a mutations occurring in Griscelli syndrome patients.
Menasche G et al.
Blood, 2003
Characterization of the molecular defects in Rab27a, caused by RAB27A missense mutations found in patients with Griscelli syndrome.
Bahadoran P et al.
The Journal of Biological Chemistry, 2003
Griscelli disease: genotype-phenotype correlation in an array of clinical heterogeneity.
Sanal O et al.
Journal of Clinical Immunology, 2002
Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome.
Ménasché G et al.
Nature Genetics, 2000