Associated Papers
Griscelli Syndrome Type 2: Comprehensive Analysis of 149 New and Previously Described Patients with RAB27A Deficiency.
Maimaris J et al.
Journal of Clinical Immunology, 2024
39607447 (PubMed )
Supplement: 10875_2024_1842_MOESM1_ESM.docx
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
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
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
Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome.
Ménasché G et al.
Nature Genetics, 2000
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