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Literature DB >> 381941

A structurally abnormal insulin causing human diabetes.

H Tager, B Given, D Baldwin, M Mako, J Markese, A Rubenstein, J Olefsky, M Kobayashi, O Kolterman, R Poucher.

Abstract

Insulin isolated from the pancreas of a diabetic patient with fasting hyperinsulinaemia showed decreased activity in binding to cell membrane insulin receptors and in stimulating cellular 2-deoxyglucose transport and glucose oxidation. Chemical studies suggest that the isolated hormone is a mixture of normal insulin and an abnormal variant which contains a leucine for phenylalanine substitution at position 24 or 25 of the insulin B-chain.

Entities: Chemical Disease Gene Mutation Species

Mesh：

Substances：
Insulin
Receptor, Insulin

Year: 1979 PMID： 381941 DOI： 10.1038/281122a0

Source DB: PubMed Journal: Nature ISSN： 0028-0836 Impact factor: 49.962

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Cited

40 in total

Review 1. The genetics of type 2 diabetes.

Authors: M McCarthy; S Menzel
Journal: Br J Clin Pharmacol Date: 2001-03 Impact factor: 4.335

2. Evidence that human and porcine insulin differently affect the human insulin receptor: studies with monoclonal anti-insulin receptor antibodies.

Authors: G Sesti; M A Marini; A Montemurro; P Borboni; G Di Cola; A Bertoli; R De Pirro; R Lauro
Journal: J Endocrinol Invest Date: 1991-12 Impact factor: 4.256

3. Prevalence of beta allele of the insulin gene in type II diabetes mellitus.

Authors: W Horst-Sikorska; B Zoll; J Kwiatkowska; B Willms; A Kraszewski; A Horst; R Slomski
Journal: Hum Genet Date: 1994-03 Impact factor: 4.132

4. Identification of a mutant human insulin predicted to contain a serine-for-phenylalanine substitution.

Authors: S Shoelson; M Fickova; M Haneda; A Nahum; G Musso; E T Kaiser; A H Rubenstein; H Tager
Journal: Proc Natl Acad Sci U S A Date: 1983-12 Impact factor: 11.205

5. Human insulin B24 (Phe----Ser). Secretion and metabolic clearance of the abnormal insulin in man and in a dog model.

Authors: S E Shoelson; K S Polonsky; A Zeidler; A H Rubenstein; H S Tager
Journal: J Clin Invest Date: 1984-05 Impact factor: 14.808

6. Structurally abnormal insulin in a diabetic patient. Characterization of the mutant insulin A3 (Val----Leu) isolated from the pancreas.

Authors: H Sakura; Y Iwamoto; Y Sakamoto; T Kuzuya; H Hirata
Journal: J Clin Invest Date: 1986-12 Impact factor: 14.808

A structurally abnormal insulin causing human diabetes.

Review 1. The genetics of type 2 diabetes.

2. Evidence that human and porcine insulin differently affect the human insulin receptor: studies with monoclonal anti-insulin receptor antibodies.

3. Prevalence of beta allele of the insulin gene in type II diabetes mellitus.

4. Identification of a mutant human insulin predicted to contain a serine-for-phenylalanine substitution.

5. Human insulin B24 (Phe----Ser). Secretion and metabolic clearance of the abnormal insulin in man and in a dog model.

6. Structurally abnormal insulin in a diabetic patient. Characterization of the mutant insulin A3 (Val----Leu) isolated from the pancreas.

Review 7. Clinical and molecular genetics of neonatal diabetes due to mutations in the insulin gene.

8. Insulin Wakayama: familial mutant insulin syndrome in Japan.

9. Diabetes mellitus carrying a mutation in the mitochondrial tRNA(Leu(UUR)) gene.

10. Biochemical and clinical implications of proinsulin conversion intermediates.