Multiple molecular mechanisms of insulin receptor dysfunction in a patient with donohue syndrome

Diabetes

Volumn 47, Issue 8, 1998, Pages 1362-1364

  Whitehead, Jonathan P ^a   Soos, Maria A ^a   Jackson, Robert ^a   Tasic, Velibor ^b   Kocova, Mirjana ^b   O'Rahilly, Stephen ^a  

^a UNIVERSITY OF CAMBRIDGE   (United Kingdom)

^b SS CYRIL AND METHODIUS UNIVERSITY   (Macedonia)

Author keywords

[No Author keywords available]

Indexed keywords

GLUCOSE; INSULIN; INSULIN RECEPTOR;

ARTICLE; AUTOPHOSPHORYLATION; CASE REPORT; GLUCOSE BLOOD LEVEL; HIRSUTISM; HUMAN; INSULIN BINDING; INSULIN BLOOD LEVEL; INSULIN RESISTANCE; INTRAUTERINE GROWTH RETARDATION; LEPRECHAUNISM; LOW BIRTH WEIGHT; MALE; MISSENSE MUTATION; PHOSPHORYLATION; PRIORITY JOURNAL; PROTEIN DEGRADATION; PROTEIN EXPRESSION;

EID: 0031852908     PISSN: 00121797     EISSN: None     Source Type: Journal    
DOI: 10.2337/diab.47.8.1362     Document Type: Article

References (10)

1. Krook A, Humphreys P, O'Rahilly S: Molecular mechanisms of insulin resistance. In Molecular Genetics of Endocrine Disorders. Thakker RV, Ed. London, Chapman & Hall, 1997, p. 231-256
2. Roth RA, Cassell DJ, Wong KY, Maddux BA, Goldfine ID: Monoclonal-antibodies to the human insulin-receptor block insulin binding and inhibit insulin action. Proc Natl Acad Sci USA 79:7312-7316, 1982
3. Krook A, Kumar S, Laing I, Boulton A, Wass J, O'Rahilly S: Molecular scanning of the insulin receptor gene in syndromes of insulin resistance. Diabetes 43:357-368, 1994
4. Krook A, Moller D, Dib K, O'Rahilly S: Two naturally occurring mutant insulin receptors phosphorylate insulin receptor substrate-1 (IRS-1) but fail to mediate the biological effects of insulin. J Biol Chem 271:7134-7140, 1996
5. Krook A, Whitehead J, Dobson S, Griffiths M, Ouwens M, Baker C, Hayward A, Sen S, Maassen J, Siddle K, Tavare J, O'Rahilly S: Two naturally occurring tyrosine kinase domain mutants provide evidence that phosphoinositide 3-kinase activation alone is not sufficient for the mediation of insulins metabolic and mitogenic effects. J Biol Chem 272:30208-30214, 1997
6. Imamura T, Takata Y, Sasaoka T, Takada Y, Morioka H, Haruta T, Sawa T, Iwanishi M, Hu YG, Suzuki Y, Hamada J, Kobayashi M: Two naturally occurring mutations in the kinase domain of insulin receptor accelerate degradation of the insulin receptor and impair the kinase activity. J Biol Chem 269:31019-31027, 1994
7. Hart LM, Lindhout D, Van der Zon GCM, Kayserilli H, Apak MY, Kleijer WJ, Van der Vorm ER, Maassen JA: An insulin receptor mutant (Asp707→ Ala), involved in Leprechaunism, is processed and transported to the cell surface but unable to bind insulin. J Biol Chem 271:18719-18724, 1996
8. Schaffer L, Hertz Hansen P: Partial characterisation of the disulfide bridges of the soluble insulin receptor (Abstract). Exp Clin Endocrinol Diabetes 104 (Suppl. 2):P24, 1996
9. Wertheimer E, Lu S, Backeljauw P, Davenport M, Taylor S: Homozygous deletion of the human insulin receptor gene results in leprechaunism. Nat Genet 5:71-73, 1993
10. Takahashi Y, Kadowaki H, Momomura K, Odawara J, Orban T, Fukshima Y, Kadowaki T: Identification of a homozygous mutation of the insulin receptor gene decreasing the tyrosine kinase activity in a patient with leprechaunism (Abstract). Diabetes 42 (Suppl. 1):63A, 1993