Molecular mechanism of neurodegeneration in spinal muscular atrophy
In the last decade, pathogenetic methods for the treatment of spinal muscular atrophy 5q have been developed. These include increased expression of the SMN2 gene, correction of SMN2 splicing, or reexpression of the SMN1 gene. Despite the comprehension of the genetic causes of the disease and the exi...
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| Main Authors: | , , , , , , , |
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| Format: | Article |
| Language: | Russian |
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ABV-press
2024-09-01
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| Series: | Нервно-мышечные болезни |
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| Online Access: | https://nmb.abvpress.ru/jour/article/view/621 |
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| author | A. I. Vlasenko V. D. Nazarov S. V. Lapin A. V. Mazing E. A. Surkova T. V. Blinova M. P. Topuzova T. M. Alekseeva |
| author_facet | A. I. Vlasenko V. D. Nazarov S. V. Lapin A. V. Mazing E. A. Surkova T. V. Blinova M. P. Topuzova T. M. Alekseeva |
| author_sort | A. I. Vlasenko |
| collection | DOAJ |
| description | In the last decade, pathogenetic methods for the treatment of spinal muscular atrophy 5q have been developed. These include increased expression of the SMN2 gene, correction of SMN2 splicing, or reexpression of the SMN1 gene. Despite the comprehension of the genetic causes of the disease and the existence of therapies, it is still not completely known which molecular mechanisms in SMN protein deficiency lead to the degeneration of motor neurons. Understanding the molecular pathways involved in the loss of motor neurons may help develop new therapeutic strategies. The article presents genetic and biochemical data that reveal the molecular mechanisms of neurodegeneration in spinal muscular atrophy 5q. |
| format | Article |
| id | doaj-art-db80cbb022b4417f910964091c830ea3 |
| institution | Matheson Library |
| issn | 2222-8721 2413-0443 |
| language | Russian |
| publishDate | 2024-09-01 |
| publisher | ABV-press |
| record_format | Article |
| series | Нервно-мышечные болезни |
| spelling | doaj-art-db80cbb022b4417f910964091c830ea32025-08-04T14:08:25ZrusABV-pressНервно-мышечные болезни2222-87212413-04432024-09-01143728010.17650/2222-8721-2024-14-3-72-80392Molecular mechanism of neurodegeneration in spinal muscular atrophyA. I. Vlasenko0V. D. Nazarov1S. V. Lapin2A. V. Mazing3E. A. Surkova4T. V. Blinova5M. P. Topuzova6T. M. Alekseeva7V.A. Almazov National Medical Research Center, Ministry of Health of RussiaI.P. Pavlov First Saint Petersburg State Medical University, Ministry of Health of RussiaI.P. Pavlov First Saint Petersburg State Medical University, Ministry of Health of RussiaI.P. Pavlov First Saint Petersburg State Medical University, Ministry of Health of RussiaI.P. Pavlov First Saint Petersburg State Medical University, Ministry of Health of RussiaI.P. Pavlov First Saint Petersburg State Medical University, Ministry of Health of RussiaV.A. Almazov National Medical Research Center, Ministry of Health of RussiaV.A. Almazov National Medical Research Center, Ministry of Health of RussiaIn the last decade, pathogenetic methods for the treatment of spinal muscular atrophy 5q have been developed. These include increased expression of the SMN2 gene, correction of SMN2 splicing, or reexpression of the SMN1 gene. Despite the comprehension of the genetic causes of the disease and the existence of therapies, it is still not completely known which molecular mechanisms in SMN protein deficiency lead to the degeneration of motor neurons. Understanding the molecular pathways involved in the loss of motor neurons may help develop new therapeutic strategies. The article presents genetic and biochemical data that reveal the molecular mechanisms of neurodegeneration in spinal muscular atrophy 5q.https://nmb.abvpress.ru/jour/article/view/621spinal muscular atrophy 5qsmn1smn2motoneuron survival proteinmolecular genetic mechanism |
| spellingShingle | A. I. Vlasenko V. D. Nazarov S. V. Lapin A. V. Mazing E. A. Surkova T. V. Blinova M. P. Topuzova T. M. Alekseeva Molecular mechanism of neurodegeneration in spinal muscular atrophy Нервно-мышечные болезни spinal muscular atrophy 5q smn1 smn2 motoneuron survival protein molecular genetic mechanism |
| title | Molecular mechanism of neurodegeneration in spinal muscular atrophy |
| title_full | Molecular mechanism of neurodegeneration in spinal muscular atrophy |
| title_fullStr | Molecular mechanism of neurodegeneration in spinal muscular atrophy |
| title_full_unstemmed | Molecular mechanism of neurodegeneration in spinal muscular atrophy |
| title_short | Molecular mechanism of neurodegeneration in spinal muscular atrophy |
| title_sort | molecular mechanism of neurodegeneration in spinal muscular atrophy |
| topic | spinal muscular atrophy 5q smn1 smn2 motoneuron survival protein molecular genetic mechanism |
| url | https://nmb.abvpress.ru/jour/article/view/621 |
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