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• W2016228306 abstract "Leprechaunism is an inherited human disorder characterized by severe insulin resistance. We have examined the properties of the insulin receptor in fibroblasts from a leprechaun patient. In vitro, severe insulin resistance is reflected by a low level of insulin binding to the patients fibroblasts and impaired insulin-mediated uptake of 2-deoxyglucose. Quantification of the receptor in detergent-solubilized total glycoprotein indicates a normal receptor number, in agreement with the observed normal level of insulin receptor mRNA on northern blots. The insulin-stimulated autophosphorylation of the patient's receptor shows a normal profile. The insulin receptor is present on the plasma membrane as indicated by cell-surface iodination experiments. No abnormalities in the molecular masses of the receptor's α and β chains were observed. The results indicate that an apparently normal receptor is synthesized in sufficient amounts but functional expression of the receptor on the plasma membrane is impaired." @default.
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• W2016228306 date "1988-03-01" @default.
• W2016228306 modified "2023-09-26" @default.
• W2016228306 title "Improper expression of insulin receptors on fibroblasts from a leprechaun patient" @default.
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• W2016228306 doi "https://doi.org/10.1111/j.1432-1033.1988.tb13949.x" @default.
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