The ADAMTS(L) family and human genetic disorders

被引：95

作者：

Le Goff, Carine ^{[1
]}

Cormier-Daire, Valerie ^{[2
]}

机构：

[1] Univ Paris 05, Dept Genet, Unite INSERM U781, F-75015 Paris, France

[2] Univ Paris 05, Dept Genet, Unite INSERM U781, Hop Necker Enfants Malad, Paris, France

来源：

HUMAN MOLECULAR GENETICS | 2011年 / 20卷

关键词：

THROMBOTIC THROMBOCYTOPENIC PURPURA; WEILL-MARCHESANI-SYNDROME; VON-WILLEBRAND-FACTOR; HEMOLYTIC-UREMIC SYNDROME; EXTRACELLULAR-MATRIX; BOVINE DERMATOSPARAXIS; GELEOPHYSIC DYSPLASIA; ACROMICRIC DYSPLASIA; MOUSE EMBRYOGENESIS; PROTEASE ACTIVITY;

D O I：

10.1093/hmg/ddr361

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

070307 [化学生物学]; 071010 [生物化学与分子生物学];

摘要：

ADAMTS designates a family of 19 secreted enzymes, whose the first member ADAMTS1 was described in 1997. The ADAMTS family has a role in extracellular matrix degradation and turn over and has previously been involved in various human biological processes, including connective tissue structure, cancer, coagulation, arthritis, angiogenesis and cell migration. More recently, the ADAMTS(L) family has been described, sharing the same ancillary domain but distinct by the absence of any enzyme activity. Mutations in ADAMTS13, ADAMTS2, ADAMTS10, ADAMTS17, ADAMTSL2 and ADAMTSL4 have been identified in distinct human genetic disorders ranging from thrombotic thrombocytopenic purpura to acromelic dysplasia. The aim of our review was to emphasize the role of this family in the extracellular matrix based on human phenotypes so far identified in relation with ADAMTS(L) mutations.

引用

页码：R163 / R167

页数：5

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