Molecular scanning of the insulin receptor substrate 1 gene in subjects with severe insulin resistance - Detection and functional analysis of a naturally occurring mutation in a YMXM motif

被引:24
作者
Whitehead, JP [1 ]
Humphreys, P
Krook, A
Jackson, R
Hayward, A
Lewis, H
Siddle, K
O'Rahilly, S
机构
[1] Univ Cambridge, Addenbrookes Hosp, Dept Clin Biochem, Cambridge CB2 2QR, England
[2] Univ Cambridge, Addenbrookes Hosp, Dept Med, Cambridge CB2 2QR, England
[3] Univ Hosp, Dept Dermatol, Birmingham, W Midlands, England
[4] Karolinska Inst, Karolinska Hosp, Dept Clin Physiol, S-10401 Stockholm, Sweden
关键词
D O I
10.2337/diabetes.47.5.837
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
[No abstract available]
引用
收藏
页码:837 / 839
页数:3
相关论文
共 18 条
[1]   A common amino acid polymorphism in insulin receptor substrate-1 causes impaired insulin signaling - Evidence from transfection studies [J].
Almind, K ;
Inoue, G ;
Pedersen, O ;
Kahn, CR .
JOURNAL OF CLINICAL INVESTIGATION, 1996, 97 (11) :2569-2575
[2]   AMINO-ACID POLYMORPHISMS OF INSULIN-RECEPTOR SUBSTRATE-1 IN NON-INSULIN-DEPENDENT DIABETES-MELLITUS [J].
ALMIND, K ;
BJORBAEK, C ;
VESTERGAARD, H ;
HANSEN, T ;
ECHWALD, S ;
PEDERSEN, O .
LANCET, 1993, 342 (8875) :828-832
[3]   Mutant insulin receptors in syndromes of insulin resistance [J].
Krook, A ;
ORahilly, S .
BAILLIERES CLINICAL ENDOCRINOLOGY AND METABOLISM, 1996, 10 (01) :97-122
[4]   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].
Krook, A ;
Moller, DE ;
Dib, K ;
ORahilly, S .
JOURNAL OF BIOLOGICAL CHEMISTRY, 1996, 271 (12) :7134-7140
[5]   Two naturally occurring insulin receptor tyrosine kinase domain mutants provide evidence that phosphoinositide 3-kinase activation alone is not sufficient for the mediation of insulin's metabolic and mitogenic effects [J].
Krook, A ;
Whitehead, JP ;
Dobson, SP ;
Griffiths, MR ;
Ouwens, M ;
Baker, C ;
Hayward, AC ;
Sen, SK ;
Maassen, JA ;
Siddle, K ;
Tavare, JM ;
ORahilly, S .
JOURNAL OF BIOLOGICAL CHEMISTRY, 1997, 272 (48) :30208-30214
[6]   MOLECULAR SCANNING OF THE INSULIN-RECEPTOR GENE IN SYNDROMES OF INSULIN-RESISTANCE [J].
KROOK, A ;
KUMAR, S ;
LAING, I ;
BOULTON, AJM ;
WASS, JAH ;
ORAHILLY, S .
DIABETES, 1994, 43 (03) :357-368
[7]   PREVALENCE OF MUTATIONS IN THE INSULIN-RECEPTOR GENE IN SUBJECTS WITH FEATURES OF THE TYPE-A SYNDROME OF INSULIN-RESISTANCE [J].
MOLLER, DE ;
COHEN, O ;
YAMAGUCHI, Y ;
ASSIZ, R ;
GRIGORESCU, F ;
EBERLE, A ;
MORROW, LA ;
MOSES, AC ;
FLIER, JS .
DIABETES, 1994, 43 (02) :247-255
[8]   Phosphorylation of insulin receptor substrate-1 on multiple serine residues, 612, 632, 662, and 731, modulates insulin action [J].
Mothe, I ;
VanObberghen, E .
JOURNAL OF BIOLOGICAL CHEMISTRY, 1996, 271 (19) :11222-11227
[9]   CLONING AND INCREASED EXPRESSION OF AN INSULIN-RECEPTOR SUBSTRATE-1-LIKE GENE IN HUMAN HEPATOCELLULAR-CARCINOMA [J].
NISHIYAMA, M ;
WANDS, JR .
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1992, 183 (01) :280-285
[10]   IDENTIFICATION BY MUTATION OF THE TYROSINE RESIDUES IN THE INSULIN-RECEPTOR SUBSTRATE-1 AFFECTING ASSOCIATION WITH THE TYROSINE PHOSPHATASE 2C AND PHOSPHATIDYLINOSITOL 3-KINASE [J].
ROCCHI, S ;
TARTAREDECKERT, S ;
MOTHE, I ;
VANOBBERGHEN, E .
ENDOCRINOLOGY, 1995, 136 (12) :5291-5297