Role of perlecan in development and diseases
作者： Eri Arikawa‐Hirasawa
DOI: 10.1016/S1574-3349(05)15002-9
关键词:
摘要: Publisher Summary This chapter reviews the structure and function of perlecan related diseases. Perlecan is a large heparan sulfate proteoglycan (HSPG) that expressed in all basement membranes but also other connective tissues as well. The core protein consists five distinctive structural domains can be substituted primarily with (HS) chains. binds to many matrix molecules, growth factors, cell surface receptors. Studies gene knockout mice human genetic diseases have demonstrated essential for development lack results embryonic perinatal lethality. In addition, has number complex biological effects tissue homeostasis depend on types environment. complete loss functional lethality defective cartilage cephalic cardiac failure. clustering acetylcholinesterase (AChE) at neuromuscular junction (NMJ), partially mutated versions result myotonia milder chondrodysplasia. may work modulator factor signaling ligand reservoir. Different different cells due glycosaminoglycan (HS GAG) side chains directly affect or through interactions heparin-binding factors.
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