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- W940938566 abstract "This chapter reviews the structure and function of perlecan and related diseases. Perlecan is a large heparan sulfate proteoglycan (HSPG) that is expressed in all basement membranes but also in other connective tissues as well. The core protein consists of five distinctive structural domains that can be substituted primarily with heparan sulfate (HS) chains. Perlecan binds to many matrix molecules, growth factors, and cell surface receptors. Studies with gene knockout mice and human genetic diseases have demonstrated that perlecan is essential for development and that the lack of perlecan results in embryonic and perinatal lethality. In addition, perlecan has a number of complex biological effects in tissue homeostasis and diseases that depend on cell types and the environment. The complete loss of functional perlecan results in embryonic and perinatal lethality with defective cartilage and cephalic development and cardiac failure. Perlecan is essential for clustering of acetylcholinesterase (AChE) at the neuromuscular junction (NMJ), and partially functional mutated versions of perlecan result in myotonia and milder chondrodysplasia. Perlecan may work as a modulator for growth factor signaling as a ligand reservoir. Different effects of perlecan on different cells may be due to the heparan sulfate glycosaminoglycan (HS GAG) side chains that directly affect cell signaling or through interactions with heparin-binding growth factors." @default.
- W940938566 created "2016-06-24" @default.
- W940938566 creator A5053527406 @default.
- W940938566 date "2005-01-01" @default.
- W940938566 modified "2023-10-16" @default.
- W940938566 title "Role of perlecan in development and diseases" @default.
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- W940938566 doi "https://doi.org/10.1016/s1574-3349(05)15002-9" @default.
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