A MUTATION IN THE INSULIN-RECEPTOR GENE THAT IMPAIRS TRANSPORT OF THE RECEPTOR TO THE PLASMA-MEMBRANE AND CAUSES INSULIN-RESISTANT DIABETES

被引:147
作者
ACCILI, D
FRAPIER, C
MOSTHAF, L
MCKEON, C
ELBEIN, SC
PERMUTT, MA
RAMOS, E
LANDER, E
ULLRICH, A
TAYLOR, SI
机构
[1] GENENTECH INC,S SAN FRANCISCO,CA 94080
[2] WASHINGTON UNIV,SCH MED,DEPT INTERNAL MED,ST LOUIS,MO 63110
[3] UNIV MARYLAND,DEPT INTERNAL MED,BALTIMORE,MD 21201
[4] WHITEHEAD INST BIOMED RES,CAMBRIDGE,MA 02142
[5] HARVARD UNIV,CAMBRIDGE,MA 02138
关键词
D O I
10.1002/j.1460-2075.1989.tb08388.x
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
引用
收藏
页码:2509 / 2517
页数:9
相关论文
共 53 条
[31]   AN HSP70-LIKE PROTEIN IN THE ER - IDENTITY WITH THE 78 KD GLUCOSE-REGULATED PROTEIN AND IMMUNOGLOBULIN HEAVY-CHAIN BINDING-PROTEIN [J].
MUNRO, S ;
PELHAM, HRB .
CELL, 1986, 46 (02) :291-300
[32]   DETECTION OF SINGLE BASE SUBSTITUTIONS BY RIBONUCLEASE CLEAVAGE AT MISMATCHES IN RNA-DNA DUPLEXES [J].
MYERS, RM ;
LARIN, Z ;
MANIATIS, T .
SCIENCE, 1985, 230 (4731) :1242-1246
[33]  
ODAWARA M, 1989, IN PRESS SCIENCE
[34]   DEFECTS IN HUMAN INSULIN-RECEPTOR GENE-EXPRESSION [J].
OJAMAA, K ;
HEDO, JA ;
ROBERTS, CT ;
MONCADA, VY ;
GORDEN, P ;
ULLRICH, A ;
TAYLOR, SI .
MOLECULAR ENDOCRINOLOGY, 1988, 2 (03) :242-247
[35]   INSULIN-RECEPTORS ON CHINESE-HAMSTER OVARY (CHO) CELLS - ALTERED INSULIN BINDING TO GLYCOSYLATION MUTANTS [J].
PODSKALNY, J ;
MCELDUFF, A ;
GORDEN, P .
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1984, 125 (01) :70-75
[36]   A CHIMERIC RECEPTOR ALLOWS INSULIN TO STIMULATE TYROSINE KINASE-ACTIVITY OF EPIDERMAL GROWTH-FACTOR RECEPTOR [J].
RIEDEL, H ;
DULL, TJ ;
SCHLESSINGER, J ;
ULLRICH, A .
NATURE, 1986, 324 (6092) :68-70
[37]  
RONNETT GV, 1984, J BIOL CHEM, V259, P4566
[38]   TUNICAMYCIN-MEDIATED DEPLETION OF INSULIN RECEPTORS IN 3T3-L1 ADIPOCYTES [J].
ROSEN, OM ;
CHIA, GH ;
FUNG, C ;
RUBIN, CS .
JOURNAL OF CELLULAR PHYSIOLOGY, 1979, 99 (01) :37-42
[39]   A POINT MUTATION IN THE EXTRACELLULAR DOMAIN OF THE HUMAN CSF-1 RECEPTOR (C-FMS PROTO-ONCOGENE PRODUCT) ACTIVATES ITS TRANSFORMING POTENTIAL [J].
ROUSSEL, MF ;
DOWNING, JR ;
RETTENMIER, CW ;
SHERR, CJ .
CELL, 1988, 55 (06) :979-988
[40]   PRIMER-DIRECTED ENZYMATIC AMPLIFICATION OF DNA WITH A THERMOSTABLE DNA-POLYMERASE [J].
SAIKI, RK ;
GELFAND, DH ;
STOFFEL, S ;
SCHARF, SJ ;
HIGUCHI, R ;
HORN, GT ;
MULLIS, KB ;
ERLICH, HA .
SCIENCE, 1988, 239 (4839) :487-491