Heritable diseases of the skeleton .3. Molecular insights into skeletal development-matrix components and their homeostasis

被引：106

作者：

Mundlos, S ^{[1
]}

Olsen, BR ^{[1
]}

机构：

[1] HARVARD UNIV, SCH MED, DEPT CELL BIOL, BOSTON, MA 02115 USA

来源：

FASEB JOURNAL | 1997年 / 11卷 / 04期

关键词：

bone; chondrodysplasia; growth plate; mutation; skeletal development;

D O I：

10.1096/fasebj.11.4.9068611

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：

A range of osteochondrodysplasias is caused by mutations in components of the extracellular matrix in cartilage and bone and in molecules that are important for posttranslational processing of such components. Mutations in the genes encoding the two polypeptide subunits of collagen I cause defects iu the structure of bone matrix while mutations iu genes encoding cartilage-specific collagens are responsible for several chondrodysplasias. Abnormalities in cartilage structure and function can also be due to mutations in structural noncollagenous components such as aggrecan and cartilage oligomeric matrix protein. Finally, several cartilage and hone disorders are due to abnormalities in sulfate transport and regulation of bone matrix homeostasis.-Mundlos, S., Olsen, B. R. Heritable diseases of the skeleton. Part II: Molecular insights into skeletal development-matrix components and their homeostasis.

引用

页码：227 / 233

页数：7

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