Primary defect of insulin receptors in skin fibroblasts cultured from an infant with leprechaunism and insulin resistance.

Abstract:

:Insulin binding to insulin receptors, on skin fibroblasts established in culture from an infant with insulin resistance and clinical features of leprechaunism was markedly decreased in comparison with cultures from an age-matched control. By contrast, the binding of epidermal growth factor, a polypeptide growth factor chemically unrelated to insulin, to patient's and control fibroblasts was indistinguishable. The selective defect in insulin binding to patient's fibroblasts was reflected in an impaired ability of insulin to stimulate 2-deoxyglucose uptake. These results most likely indicate a primary genetic defect of insulin receptors.

authors

Schilling EE,Rechler MM,Grunfeld C,Rosenberg AM

doi

10.1073/pnas.76.11.5877

subject

Has Abstract

pub_date

1979-11-01 00:00:00

pages

5877-81

issue

11

eissn

0027-8424

issn

1091-6490

journal_volume

76

pub_type

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