Patients with Griscelli syndrome and normal pigmentation identify RAB27A mutations that selectively disrupt MUNC13-4 binding

Journal of Allergy and Clinical Immunology

Volumn 135, Issue 5, 2015, Pages 1310-1318.e1

  Cetica, Valentina ^a   Hackmann, Yvonne ^b,g   Grieve, Samantha ^b   Sieni, Elena ^a   Ciambotti, Benedetta ^a   Coniglio, Maria Luisa ^a   Pende, Daniela ^c   Gilmour, Kimberly ^d   Romagnoli, Paolo ^e   Griffiths, Gillian M ^b   Aricò, Maurizio ^f,h  

^a UNIVERSITY OF FLORENCE   (Italy)

^b UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^c UNIVERSITY OF GENOA   (Italy)

^d GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^e UNIVERSITY OF FLORENCE   (Italy)

^f ISTITUTO TOSCANO TUMORI   (Italy)

^g UNIVERSITY OF HEIDELBERG   (Germany)

^h NONE   (Italy)

Author keywords

cytotoxic T lymphocyte; familial hemophagocytic lymphohistiocytosis; Griscelli syndrome type 2; Hemophagocytic lymphohistiocytosis; melanophilin; natural killer cells

Indexed keywords

AMINO ACID; BINDING PROTEIN; MUNC13 4 PROTEIN; RAB27A PROTEIN; UNCLASSIFIED DRUG; GENETIC MARKER; MEMBRANE PROTEIN; MLPH PROTEIN, HUMAN; PERFORIN; PROTEIN BINDING; RAB PROTEIN; RAB27A PROTEIN, HUMAN; SIGNAL TRANSDUCING ADAPTOR PROTEIN; UNC13D PROTEIN, HUMAN;

ALLELE; ARTICLE; CELL MEDIATED CYTOTOXICITY; CHILD; FEMALE; GENE DISRUPTION; GENE MUTATION; GRISCELLI SYNDROME; HEMOPHAGOCYTIC SYNDROME; HUMAN; HUMAN CELL; IMMUNE DEFICIENCY; INFANT; MAJOR CLINICAL STUDY; MALE; MUTATIONAL ANALYSIS; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN PROTEIN INTERACTION; SCHOOL CHILD; ADOLESCENT; ALBINISM; CASE CONTROL STUDY; CELL LINE; CHEMICAL STRUCTURE; CHEMISTRY; COHORT ANALYSIS; CYTOTOXICITY; DEGRANULATION; DNA MUTATIONAL ANALYSIS; GENE EXPRESSION; GENETIC MARKER; GENETICS; LYMPHOHISTIOCYTOSIS, HEMOPHAGOCYTIC; METABOLISM; MUTATION; PHENOTYPE; PROTEIN CONFORMATION; SKIN PIGMENTATION;

ADAPTOR PROTEINS, SIGNAL TRANSDUCING; ADOLESCENT; ALBINISM; CASE-CONTROL STUDIES; CELL DEGRANULATION; CELL LINE; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; CYTOTOXICITY, IMMUNOLOGIC; DNA MUTATIONAL ANALYSIS; FEMALE; GENE EXPRESSION; GENETIC MARKERS; HUMANS; INFANT; LYMPHOHISTIOCYTOSIS, HEMOPHAGOCYTIC; MALE; MEMBRANE PROTEINS; MODELS, MOLECULAR; MUTATION; PERFORIN; PHENOTYPE; PROTEIN BINDING; PROTEIN CONFORMATION; RAB GTP-BINDING PROTEINS; SKIN PIGMENTATION;

EID: 84946091373     PISSN: 00916749     EISSN: 10976825     Source Type: Journal    
DOI: 10.1016/j.jaci.2014.08.039     Document Type: Article

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