ABNORMAL PROCOLLAGEN SYNTHESIS IN FIBROBLASTS FROM THREE PATIENTS OF THE SAME FAMILY WITH A SEVERE FORM OF OSTEOGENESIS IMPERFECTA (TYPE-III)

被引：13
作者：
BONAVENTURE, J [1 ]
COHENSOLAL, L [1 ]
LASSELIN, C [1 ]
ALLAIN, JC [1 ]
MAROTEAUX, P [1 ]
机构：
[1] HOP NECKER ENFANTS MALAD,CNRS,VA 584,F-75743 PARIS 15,FRANCE
来源：
BIOCHIMICA ET BIOPHYSICA ACTA | 1986年 / 889卷 / 01期
关键词：
D O I：
10.1016/0167-4889(86)90005-4
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：23 / 34
页数：12
相关论文
共 37 条
[1]   CORRELATION BETWEEN SPLICING SITES WITHIN AN INTRON AND THEIR SEQUENCE COMPLEMENTARITY WITH U1 RNA [J].
AVVEDIMENTO, VE ;
VOGELI, G ;
YAMADA, Y ;
MAIZEL, JV ;
PASTAN, I ;
CROMBRUGGHE, BD .
CELL, 1980, 21 (03) :689-696
[2]   REDUCED SECRETION OF STRUCTURALLY ABNORMAL TYPE-I PROCOLLAGEN IN A FORM OF OSTEOGENESIS IMPERFECTA [J].
BARSH, GS ;
BYERS, PH .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES, 1981, 78 (08) :5142-5146
[3]  
BARSH GS, 1984, J BIOL CHEM, V259, P4906
[4]  
BARSH GS, 1982, P NATL ACAD SCI-BIOL, V79, P3838, DOI 10.1073/pnas.79.12.3838
[5]   REGULATION OF THE PRODUCTION OF SECRETORY PROTEINS - INTRACELLULAR DEGRADATION OF NEWLY SYNTHESIZED DEFECTIVE COLLAGEN [J].
BERG, RA ;
SCHWARTZ, ML ;
CRYSTAL, RG .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES, 1980, 77 (08) :4746-4750
[6]  
BONADIO J, 1985, J BIOL CHEM, V260, P1734
[7]   SUBTLE STRUCTURAL ALTERATIONS IN THE CHAINS OF TYPE-I PROCOLLAGEN PRODUCE OSTEOGENESIS IMPERFECTA TYPE-II [J].
BONADIO, J ;
BYERS, PH .
NATURE, 1985, 316 (6026) :363-366
[8]   BETA+ THALASSEMIA - ABERRANT SPLICING RESULTS FROM A SINGLE POINT MUTATION IN AN INTRON [J].
BUSSLINGER, M ;
MOSCHONAS, N ;
FLAVELL, RA .
CELL, 1981, 27 (02) :289-298
[9]   OSTEOGENESIS IMPERFECTA - UPDATE AND PERSPECTIVE [J].
BYERS, PH ;
BONADIO, JF ;
STEINMANN, B .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1984, 17 (02) :429-435
[10]  
CHU ML, 1985, J BIOL CHEM, V260, P691
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