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 acetylcholine receptor clustering and maintenance. Therefore, Rapsyn is essential to the NMJ formation and maintenance, and Rapsyn mutant is one of...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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Association of Basic Medical Sciences of Federation of Bosnia and Herzegovina
2023-09-01
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| Series: | Biomolecules & Biomedicine |
| Subjects: | |
| Online Access: | https://www.bjbms.org/ojs/index.php/bjbms/article/view/8641 |
| _version_ | 1797261386500276224 |
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| author | Xufeng Liao Yingxing Wang Xinsheng Lai Shunqi Wang |
| author_facet | Xufeng Liao Yingxing Wang Xinsheng Lai Shunqi Wang |
| author_sort | Xufeng Liao |
| collection | DOAJ |
| description |
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.
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| first_indexed | 2024-04-24T23:40:24Z |
| format | Article |
| id | doaj.art-acbe5f0fabca437aacde05587ea6c531 |
| institution | Directory Open Access Journal |
| issn | 2831-0896 2831-090X |
| language | English |
| last_indexed | 2024-04-24T23:40:24Z |
| publishDate | 2023-09-01 |
| publisher | Association of Basic Medical Sciences of Federation of Bosnia and Herzegovina |
| record_format | Article |
| series | Biomolecules & Biomedicine |
| spelling | doaj.art-acbe5f0fabca437aacde05587ea6c5312024-03-15T13:22:33ZengAssociation of Basic Medical Sciences of Federation of Bosnia and HerzegovinaBiomolecules & Biomedicine2831-08962831-090X2023-09-0123510.17305/bb.2022.8641The role of Rapsyn in neuromuscular junction and congenital myasthenic syndromeXufeng Liao0Yingxing Wang1Xinsheng Lai2Shunqi Wang3Institute of Life Science and School of Life Sciences, Nanchang University, Nanchang, ChinaInstitute of Life Science and School of Life Sciences, Nanchang University, Nanchang, ChinaInstitute of Life Science and School of Life Sciences, Nanchang University, Nanchang, China; School of Basic Medical Sciences, Nanchang University, Nanchang, ChinaInstitute of Life Science and School of Life Sciences, Nanchang University, Nanchang, China; School of Basic Medical Sciences, Nanchang University, Nanchang, China 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. https://www.bjbms.org/ojs/index.php/bjbms/article/view/8641Rapsynneuromuscular junction (NMJ)congenital myasthenic syndrome (CMS)mutationmedicationcentral nervous system (CNS) |
| spellingShingle | Xufeng Liao Yingxing Wang Xinsheng Lai Shunqi Wang The role of Rapsyn in neuromuscular junction and congenital myasthenic syndrome Biomolecules & Biomedicine Rapsyn neuromuscular junction (NMJ) congenital myasthenic syndrome (CMS) mutation medication central nervous system (CNS) |
| 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 | Rapsyn neuromuscular junction (NMJ) congenital myasthenic syndrome (CMS) mutation medication central nervous system (CNS) |
| url | https://www.bjbms.org/ojs/index.php/bjbms/article/view/8641 |
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