Human diabetes associated with a mutation in the tyrosine kinase domain of the insulin receptor

Masato Odawara; Takashi Kadowaki; Ritsuko Yamamoto; Yoshikazu Shibasaki; Kazuyuki Tobe; Domenico Accili; Charles Bevins; Yuhei Mikami; Nobuo Matsuura; Yasuo Akanuma; Fumimaro Takaku; Simeon I. Taylor; Masato Kasuga

doi:10.1126/science.2544998

Human diabetes associated with a mutation in the tyrosine kinase domain of the insulin receptor

Masato Odawara, Takashi Kadowaki, Ritsuko Yamamoto, Yoshikazu Shibasaki, Kazuyuki Tobe, Domenico Accili, Charles Bevins, Yuhei Mikami, Nobuo Matsuura, Yasuo Akanuma, Fumimaro Takaku, Simeon I. Taylor, Masato Kasuga^*

^*Corresponding author for this work

Internal Medicine （1）

Research output: Contribution to journal › Article › peer-review

204 Scopus citations

Abstract

Insulin receptor complementary DNA has been cloned from an insulin-resistant individual whose receptors have impaired tyrosine protein kinase activity. One of this individual's alleles has a mutation in which valine is substituted for Gly⁹⁹⁶, the third glycine in the conserved Gly-X-Gly-X-X-Gly motif in the putative binding site for adenosine triphosphate. Expression of the mutant receptor by transfection into Chinese hamster ovary cells confirmed that the mutation impairs tyrosine kinase activity.

Original language	English
Pages (from-to)	66-68
Number of pages	3
Journal	Science
Volume	245
Issue number	4913
DOIs	https://doi.org/10.1126/science.2544998
State	Published - 1989

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@article{229d6537c7ab4f1b84dc52786eab854c,

title = "Human diabetes associated with a mutation in the tyrosine kinase domain of the insulin receptor",

abstract = "Insulin receptor complementary DNA has been cloned from an insulin-resistant individual whose receptors have impaired tyrosine protein kinase activity. One of this individual's alleles has a mutation in which valine is substituted for Gly996, the third glycine in the conserved Gly-X-Gly-X-X-Gly motif in the putative binding site for adenosine triphosphate. Expression of the mutant receptor by transfection into Chinese hamster ovary cells confirmed that the mutation impairs tyrosine kinase activity.",

author = "Masato Odawara and Takashi Kadowaki and Ritsuko Yamamoto and Yoshikazu Shibasaki and Kazuyuki Tobe and Domenico Accili and Charles Bevins and Yuhei Mikami and Nobuo Matsuura and Yasuo Akanuma and Fumimaro Takaku and Taylor, {Simeon I.} and Masato Kasuga",

year = "1989",

doi = "10.1126/science.2544998",

language = "英語",

volume = "245",

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TY - JOUR

T1 - Human diabetes associated with a mutation in the tyrosine kinase domain of the insulin receptor

AU - Odawara, Masato

AU - Kadowaki, Takashi

AU - Yamamoto, Ritsuko

AU - Shibasaki, Yoshikazu

AU - Tobe, Kazuyuki

AU - Accili, Domenico

AU - Bevins, Charles

AU - Mikami, Yuhei

AU - Matsuura, Nobuo

AU - Akanuma, Yasuo

AU - Takaku, Fumimaro

AU - Taylor, Simeon I.

AU - Kasuga, Masato

PY - 1989

Y1 - 1989

N2 - Insulin receptor complementary DNA has been cloned from an insulin-resistant individual whose receptors have impaired tyrosine protein kinase activity. One of this individual's alleles has a mutation in which valine is substituted for Gly996, the third glycine in the conserved Gly-X-Gly-X-X-Gly motif in the putative binding site for adenosine triphosphate. Expression of the mutant receptor by transfection into Chinese hamster ovary cells confirmed that the mutation impairs tyrosine kinase activity.

AB - Insulin receptor complementary DNA has been cloned from an insulin-resistant individual whose receptors have impaired tyrosine protein kinase activity. One of this individual's alleles has a mutation in which valine is substituted for Gly996, the third glycine in the conserved Gly-X-Gly-X-X-Gly motif in the putative binding site for adenosine triphosphate. Expression of the mutant receptor by transfection into Chinese hamster ovary cells confirmed that the mutation impairs tyrosine kinase activity.

UR - http://www.scopus.com/inward/record.url?scp=0024323165&partnerID=8YFLogxK

U2 - 10.1126/science.2544998

DO - 10.1126/science.2544998

M3 - 学術論文

C2 - 2544998

AN - SCOPUS:0024323165

SN - 0036-8075

VL - 245

SP - 66

EP - 68

JO - Science

JF - Science

IS - 4913

ER -

Human diabetes associated with a mutation in the tyrosine kinase domain of the insulin receptor

Abstract

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