An insulin receptor mutant (Asp707 → Ala), involved in leprechaunism, is processed and transported to the cell surface but unable to bind insulin

Journal of Biological Chemistry

Volumn 271, Issue 31, 1996, Pages 18719-18724

  'T Hart, Leen M ^a   Lindhout, Dick ^b   Van der Zon, Gerard C M ^a   Kayserilli, Hülya ^c   Apak, Memnune Y ^c   Kleijer, Wim J ^b   Van der Vorm, Eric R ^d   Maassen, J Antonie ^a,e  

^a LEIDEN UNIVERSITY   (Netherlands)

^b ERASMUS MEDICAL CENTER   (Netherlands)

^c ISTANBUL UNIVERSITY   (Turkey)

^d JULIANA CHILDREN S HOSPITAL   (Netherlands)

^e LEIDEN UNIVERSITY   (Netherlands)

Author keywords

[No Author keywords available]

Indexed keywords

ALANINE; ASPARTIC ACID; BIOTIN; CELL SURFACE PROTEIN; DETERGENT; INSULIN RECEPTOR; MUTANT PROTEIN; RECEPTOR SUBUNIT; TRITON X 100;

AMINO ACID SUBSTITUTION; ANIMAL CELL; ARTICLE; CASE REPORT; CELL SURFACE; CHO CELL; CONTROLLED STUDY; HUMAN; HUMAN CELL; INFANT; INSULIN BINDING; LEPRECHAUNISM; MALE; MUTATION; NONHUMAN; PRIORITY JOURNAL; PROTEIN PROCESSING; PROTEIN TRANSPORT; RECEPTOR SOLUBILIZATION;

ABNORMALITIES, MULTIPLE; ANIMALS; BINDING SITES; BIOLOGICAL TRANSPORT, ACTIVE; CELL MEMBRANE; CELLS, CULTURED; CHO CELLS; CRICETINAE; DNA, COMPLEMENTARY; FIBROBLASTS; HUMANS; INFANT; INSULIN; MALE; PHOSPHORYLATION; POINT MUTATION; PROTEIN BINDING; PROTEIN PROCESSING, POST-TRANSLATIONAL; RECEPTOR, INSULIN; SYNDROME; TRANSFECTION;

EID: 0029767926     PISSN: 00219258     EISSN: None     Source Type: Journal    
DOI: 10.1074/jbc.271.31.18719     Document Type: Article

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