The role of Rapsyn in neuromuscular junction and congenital myasthenic syndrome

Rapsyn, an intracellular scaffolding protein associated with the postsynaptic membranes in the neuromuscular junction (NMJ), is critical for nicotinic nerve receptor clustering and maintenance. Therefore, Rapsyn is essential to the NMJ formation and maintenance, and Rapsyn mutant is one of the reaso...

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Detalles Bibliográficos
Autores principales: Liao, Xufeng, Wang, Yingxing, Lai, Xinsheng, Wang, Shunqi
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Association of Basic Medical Sciences of Federation of Bosnia and Herzegovina 2023
Materias:
Review
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10494853/
https://www.ncbi.nlm.nih.gov/pubmed/36815443
http://dx.doi.org/10.17305/bb.2022.8641
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author Liao, Xufeng
Wang, Yingxing
Lai, Xinsheng
Wang, Shunqi
author_facet Liao, Xufeng
Wang, Yingxing
Lai, Xinsheng
Wang, Shunqi
author_sort Liao, Xufeng
collection PubMed
description Rapsyn, an intracellular scaffolding protein associated with the postsynaptic membranes in the neuromuscular junction (NMJ), is critical for nicotinic nerve 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 the 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.
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spelling pubmed-104948532023-10-01 The role of Rapsyn in neuromuscular junction and congenital myasthenic syndrome Liao, Xufeng Wang, Yingxing Lai, Xinsheng Wang, Shunqi Biomol Biomed Review Rapsyn, an intracellular scaffolding protein associated with the postsynaptic membranes in the neuromuscular junction (NMJ), is critical for nicotinic nerve 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 the 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. Association of Basic Medical Sciences of Federation of Bosnia and Herzegovina 2023-10-01 2023-10-01 /pmc/articles/PMC10494853/ /pubmed/36815443 http://dx.doi.org/10.17305/bb.2022.8641 Text en © 2023 Liao et al. https://creativecommons.org/licenses/by/4.0/This article is available under a Creative Commons License (Attribution 4.0 International, as described at https://creativecommons.org/licenses/by/4.0/).
spellingShingle Review
Liao, Xufeng
Wang, Yingxing
Lai, Xinsheng
Wang, Shunqi
The role of Rapsyn in neuromuscular junction and congenital myasthenic syndrome
title The role of Rapsyn in neuromuscular junction and congenital myasthenic syndrome
title_full The role of Rapsyn in neuromuscular junction and congenital myasthenic syndrome
title_fullStr The role of Rapsyn in neuromuscular junction and congenital myasthenic syndrome
title_full_unstemmed The role of Rapsyn in neuromuscular junction and congenital myasthenic syndrome
title_short The role of Rapsyn in neuromuscular junction and congenital myasthenic syndrome
title_sort role of rapsyn in neuromuscular junction and congenital myasthenic syndrome
topic Review
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10494853/
https://www.ncbi.nlm.nih.gov/pubmed/36815443
http://dx.doi.org/10.17305/bb.2022.8641
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