The role of Rapsyn in neuromuscular junction and congenital myasthenic syndrome
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Published:2023-02-20
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ISSN:2831-090X
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Container-title:Biomolecules and Biomedicine
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language:
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Short-container-title:Biomol Biomed
Author:
Liao Xufeng,Wang Yingxing,Lai Xinsheng,Wang Shunqi
Abstract
Rapsyn, an intracellular scaffolding protein associated with the postsynaptic membranes in the neuromuscular junction (NMJ), is critical for nicotinic acetylcholine receptor clustering and maintenance. Therefore, Rapsyn is essential to the NMJ formation and maintenance, and Rapsyn mutant is one of the reasons causing the pathogenies of congenital myasthenic syndrome (CMS). In addition, there is little research on Rapsyn in the central nervous system (CNS). In this review, the role of Rapsyn in the NMJ formation and the mutation of Rapsyn leading to CMS will be reviewed separately and sequentially. Finally, the potential function of Rapsyn is prospected.
Publisher
Association of Basic Medical Sciences of FBIH