Characterization of the Molecular Defects in Rab27a, Caused by RAB27A Missense Mutations Found in Patients with Griscelli Syndrome
نویسندگان
چکیده
منابع مشابه
RAB27A Mutation in Griscelli Syndrome
1Department of Pediatric Hematology/Oncology, Mofi d Children Hospital, Shahid Beheshti Medical University, Tehran, Iran 2Molecular Immunology Research Center; and Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran 3Research Center for Immunodefi ciencies, Pediatrics Center of Excellence, Children’s Medical Center, Tehran University of Medical Scie...
متن کاملBiochemical and functional characterization of Rab27a mutations occurring in Griscelli syndrome patients.
Rab27a is a member of the Rab family of small GTPase proteins, and thus far is the first member to be associated with a human disease (ie, the Griscelli syndrome type 2). Mutations in the Rab27a gene cause pigment as well as cytotoxic granule transport defects, accounting for the partial albinism and severe immune disorder characteristics of this syndrome. So far, 3 Rab27a missense mutations ha...
متن کاملPatients with Griscelli syndrome and normal pigmentation identify RAB27A mutations that selectively disrupt MUNC13-4 binding
BACKGROUND Familial hemophagocytic lymphohistiocytosis (FHL) is a rare and often fatal disorder characterized by defective cellular cytotoxicity and hyperinflammation, and the only cure known to date is hematopoietic stem cell transplantation. Mutations in RAB27A, LYST, and AP3B1 give rise to FHL associated with oculocutaneous albinism, and patients with FHL are usually only screened for mutati...
متن کاملClinical presentation of Griscelli syndrome type 2 and spectrum of RAB27A mutations.
BACKGROUND Griscelli syndrome type 2 (GS2) is an autosomal-recessive immunodeficiency caused by mutations in RAB27A, clinically characterized by partial albinism and haemophagocytic lymphohistocytosis (HLH). We evaluated the frequency of RAB27A mutations in 21 unrelated patients with haemophagocytic syndromes without mutations in familial HLH (FHL) causing genes or an established diagnosis of G...
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ژورنال
عنوان ژورنال: Journal of Biological Chemistry
سال: 2003
ISSN: 0021-9258
DOI: 10.1074/jbc.m211996200