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Role of perlecan in skeletal development and diseases |
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| Authors: | Hassell John Yamada Yoshihiko Arikawa-Hirasawa Eri |
| Institution: | (1) The Center for Research in Skeletal Development and Pediatric Orthopaedics, Shriners Hospitals for Children and the Department of Biochemistry and Molecular Biology, College of Medicine, University of South Florida, Tampa, FL 33612, USA;(2) The Craniofacial Developmental Biology and Regeneration Branch, National Institute of Dental and Craniofacial Research, NIH, Bethesda, MD 20892, USA;(3) Research Institute for Diseases of Old Ages, Juntendo University Medical School, Hongo, Tokyo, 113-8421 |
| Abstract: | Perlecan, a large heparan sulfate proteoglycan (HSPG), is present in the basement membrane and other extracellular matrices. Its protein core is 400 kDa in size and consists of five distinct structural domains. A number of in vitro studies suggest multiple functions of perlecan in cell growth and differentiation and tissue organization. Recent studies with gene knockout mice and human diseases revealed critical in vivo roles of perlecan in cartilage development and neuromuscular junction activity. Published in 2003. |
| Keywords: | heparan sulfate proteoglycan cartilage development mutations chondrodysplasia myotonia |
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