Complementation of a pathogenic IFNGR2 misfolding mutation with modifiers of N-glycosylation

Journal of Experimental Medicine

Volumn 205, Issue 8, 2008, Pages 1729-1737

  Vogt, Guillaume ^a,b   Bustamante, Jacinta ^a,b   Chapgier, Ariane ^a,b   Feinberg, Jacqueline ^a,b   Dupuis, Stephanie Boisson ^a,b   Picard, Capucine ^a,b,c   Mahlaoui, Nizar ^d   Gineau, Laure ^a,b   Alcaïs, Alexandre ^a,b   Lamaze, Christophe ^e   Puck, Jennifer M ^f   De Saint Basile, Geneviève ^d   Khayat, Claudia Djambas ^g   Mikhael, Raymond ^g   Casanova, Jean Laurent ^a,b,d  

^a IMAGINE INSTITUTE   (France)

^b UNIVERSITÉ PARIS DESCARTES   (France)

^c ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

^d HÔPITAL NECKER ENFANTS MALADES   (France)

^e CNRS   (France)

^f UNIVERSITY OF CALIFORNIA   (United States)

^g SAINT JOSEPH UNIVERSITY   (Lebanon)

Author keywords

[No Author keywords available]

Indexed keywords

CASTANOSPERMINE; GAMMA INTERFERON RECEPTOR; GAMMA INTERFERON RECEPTOR 2; KIFUNENSINE; MIGLUSTAT; RECOMBINANT ALPHA2B INTERFERON; RECOMBINANT GAMMA INTERFERON;

ALLELE; ARTICLE; BACTERIAL INFECTION; CASE REPORT; CELL ACTIVITY; CELL SURFACE; FEMALE; FRAMESHIFT MUTATION; GENE INSERTION; GENE LOSS; GENE MUTATION; GENETIC COMPLEMENTATION; GENETIC TRAIT; GENETIC TRANSFECTION; GLYCOSYLATION; HOMOZYGOSITY; HUMAN; HUMAN CELL; MALE; MOLECULAR WEIGHT; MUTANT; MYCOBACTERIUM; NULL ALLELE; PRESCHOOL CHILD; PRIORITY JOURNAL; PROTEIN EXPRESSION; PROTEIN FOLDING; PROTEIN PROCESSING; QUALITY CONTROL;

ALLELES; AMINO ACID SEQUENCE; BASE SEQUENCE; CELL LINE; CHILD, PRESCHOOL; CONSANGUINITY; DNA; FEMALE; GENETIC COMPLEMENTATION TEST; GLYCOSYLATION; HOMOZYGOTE; HUMANS; MALE; MUTAGENESIS, INSERTIONAL; MUTATION; MYCOBACTERIUM AVIUM-INTRACELLULARE INFECTION; PEDIGREE; PHENOTYPE; PROTEIN FOLDING; RECEPTORS, INTERFERON; SEQUENCE DELETION; TRANSFECTION;

EID: 49249138373     PISSN: 00221007     EISSN: 00221007     Source Type: Journal    
DOI: 10.1084/jem.20071987     Document Type: Article

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