Inactive matriptase-2 mutants found in IRIDA patients still repress hepcidin in a transfection assay despite having lost their serine protease activity

Human Mutation

Volumn 33, Issue 9, 2012, Pages 1388-1396

  Guillem, Flavia ^a   Kannengiesser, Caroline ^a,b   Oudin, Claire ^b   Lenoir, Anne ^c,d,e   Matak, Pavle ^c,d,e   Donadieu, Jean ^f   Isidor, Bertrand ^g   Méchinaud, Francoise ^h   Aguilar Martinez, Patricia ⁱ   Beaumont, Carole ^a   Vaulont, Sophie ^c,d,e   Grandchamp, Bernard ^a,b   Nicolas, Gael ^c,d,e  

^a INSERM   (France)

^b BICHAT HOSPITAL   (France)

^c INSTITUT COCHIN   (France)

^d CNRS   (France)

^e UNIVERSITÉ PARIS DESCARTES   (France)

^f ARMAND TROUSSEAU HOSPITAL   (France)

^g Hopital Mere Enfant CHU de Nantes   (France)

^h ROYAL CHILDREN'S HOSPITAL   (Australia)

ⁱ HÔPITAL SAINT ELOI   (France)

Author keywords

Anemia; Hepcidin; IRIDA; Matriptase 2; TMPRSS6

Indexed keywords

HEPCIDIN; MATRIPTASE; MATRIPTASE 2; SERINE PROTEINASE; UNCLASSIFIED DRUG;

AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CATALYSIS; CHILD; FEMALE; FRAMESHIFT MUTATION; GENE REPRESSION; GENETIC TRANSFECTION; HUMAN; INFANT; IRON DEFICIENCY ANEMIA; MALE; MUTANT; PRESCHOOL CHILD; PRIORITY JOURNAL;

ADOLESCENT; ADULT; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; ANEMIA, IRON-DEFICIENCY; ANTIMICROBIAL CATIONIC PEPTIDES; CATALYTIC DOMAIN; CHILD; CHILD, PRESCHOOL; CHROMOGENIC COMPOUNDS; CULTURE MEDIA; ENZYME ACTIVATION; ENZYME ASSAYS; ENZYME PRECURSORS; FRAMESHIFT MUTATION; GENE SILENCING; GENETIC TESTING; HELA CELLS; HUMANS; INFANT; MALE; MEMBRANE PROTEINS; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; REPRESSOR PROTEINS; SERINE ENDOPEPTIDASES; SERINE PROTEASES; TRANSCRIPTION, GENETIC; TRANSFECTION;

EID: 84865163240     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22116     Document Type: Article

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