Implications of compound heterozygous insulin receptor mutations in congenital muscle fibre type disproportion myopathy for the receptor kinase activation

Diabetologia

Volumn 42, Issue 2, 1999, Pages 245-249

  Klein, H H ^a   Muller R ^a   Vestergaard, H ^b   Pedersen, O ^b  

^a UNIVERSITY OF LÜBECK   (Germany)

^b STENO DIABETES CENTER   (Denmark)

Author keywords

Compound heterozygous insulin receptor mutations; Congenital fibre type disproportion myopathy; Erythrocytes; Human muscle; Insulin receptor kinase

Indexed keywords

INSULIN RECEPTOR;

ALLELE; ALTERNATIVE RNA SPLICING; ARTICLE; ENZYME ACTIVATION; ENZYME ACTIVITY; ENZYME DEGRADATION; EXON; GENE MUTATION; GENETIC TRANSCRIPTION; HETEROZYGOSITY; HUMAN; HUMAN TISSUE; INSULIN RESISTANCE; MISSENSE MUTATION; MYOPATHY; PRIORITY JOURNAL; RECEPTOR GENE;

ADULT; ANTIBODIES; ENZYME ACTIVATION; ERYTHROCYTES; HETEROZYGOTE; HUMANS; INSULIN; INSULIN RESISTANCE; MALE; MUSCLE FIBERS; MUSCLE, SKELETAL; MUSCULAR DISEASES; MUTATION; PHOSPHOTYROSINE; POINT MUTATION; RECEPTOR, INSULIN;

EID: 0032896443     PISSN: 0012186X     EISSN: None     Source Type: Journal    
DOI: 10.1007/s001250051145     Document Type: Article

References (10)

1. 1. Vestergaard H, Klein HH, Hansen T et al. (1995) Severe insulin-resistant diabetes mellitus in patients with congenital muscle fiber type disproportion myopathy. J Clin Invest 95: 1925-1932
2. 2. Vorwerk P, Vestergaard H, Christoffersen CT, DeMeyts P, Pedersen O (1994) Insulin receptor mutations in a novel syndrome of insulin resistance. Diabetologia 37:A29 (Abstract)
3. 3. Klein HH, Vestergaard H, Kotzke G, Pedersen O (1995) Elevation of serum insulin concentration during euglycemic hyperinsulinemic clamp studies leads to similar activation of insulin receptor kinase in skeletal muscle of subjects with and without NIDDM. Diabetes 44: 1310-1317
4. 4. Klein HH, Kowalewski B, Drenckhan M, Fehm HL (1997) Insulin stimulation of human adipocytes activates the kinase of only a fraction of the insulin receptors. Am J Physiol 272:E576-E583
5. 5. Klein HH, Kowalewski B, Drenckhan M, Neugebauer S, Matthaei S, Kotzke G (1993) A microtiter well assay system to measure insulin activation of insulin receptor kinase in intact human mononuclear cells. Decreased insulin effect in cells from patients with NIDDM. Diabetes 42: 883-890
6. 6. Frattali AL, Pessin JE (1993) Relationship between alpha subunit ligand occupancy and beta subunit autophosphorylation in insulin/insulin-like growth factor-1 hybrid receptors. J Biol Chem 268: 7393-7400
7. 7. Taylor SI, Accili D (1996) Mutations in the genes encoding the insulin receptor and insulin receptor substrate-1. In: LeRoith D, Taylor SI, Olefsky JM (eds) Diabetes mellitus. Lippincott-Raven, Philadelphia, pp 575-583
8. 8. Levy-Toledano R, Accili D, Taylor SI (1993) Deletion of C-terminal 113 amino acids impairs processing and internalization of human insulin receptor: comparison of receptors expressed in CHO and NIH-3T3 cells. Biochim Biophys Acta 1220: 1-14
9. 1174→Gln) in the tyrosine kinase domain of the insulin receptor from a type A insulin resistant patient. FEBS Lett 351: 276-280
10. 10. Krook A, Moller DE, Dib K, O'Rahilly S (1996) Two naturally occurring mutant insulin receptors phosphorylate insulin receptor substrate-1 (IRS-1) but fail to mediate the biological effects of insulin. Evidence that IRS-1 phosphorylation is not sufficient for normal insulin action. J Biol Chem 271: 7134-7140