Deciphering the Complex Molecular Pathogenesis of Myotonic Dystrophy Type 1 through Omics Studies
Omics studies are crucial to improve our understanding of myotonic dystrophy type 1 (DM1), the most common muscular dystrophy in adults. Employing tissue samples and cell lines derived from patients and animal models, omics approaches have revealed the myriad alterations in gene and microRNA express...
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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MDPI AG
2022-01-01
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| Series: | International Journal of Molecular Sciences |
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| Online Access: | https://www.mdpi.com/1422-0067/23/3/1441 |
| _version_ | 1797487359787270144 |
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| author | Jorge Espinosa-Espinosa Anchel González-Barriga Arturo López-Castel Rubén Artero |
| author_facet | Jorge Espinosa-Espinosa Anchel González-Barriga Arturo López-Castel Rubén Artero |
| author_sort | Jorge Espinosa-Espinosa |
| collection | DOAJ |
| description | Omics studies are crucial to improve our understanding of myotonic dystrophy type 1 (DM1), the most common muscular dystrophy in adults. Employing tissue samples and cell lines derived from patients and animal models, omics approaches have revealed the myriad alterations in gene and microRNA expression, alternative splicing, 3′ polyadenylation, CpG methylation, and proteins levels, among others, that contribute to this complex multisystem disease. In addition, omics characterization of drug candidate treatment experiments provides crucial insight into the degree of therapeutic rescue and off-target effects that can be achieved. Finally, several innovative technologies such as single-cell sequencing and artificial intelligence will have a significant impact on future DM1 research. |
| first_indexed | 2024-03-09T23:47:30Z |
| format | Article |
| id | doaj.art-2981315bf3584830a738fc25cc80bfb3 |
| institution | Directory Open Access Journal |
| issn | 1661-6596 1422-0067 |
| language | English |
| last_indexed | 2024-03-09T23:47:30Z |
| publishDate | 2022-01-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | International Journal of Molecular Sciences |
| spelling | doaj.art-2981315bf3584830a738fc25cc80bfb32023-11-23T16:40:32ZengMDPI AGInternational Journal of Molecular Sciences1661-65961422-00672022-01-01233144110.3390/ijms23031441Deciphering the Complex Molecular Pathogenesis of Myotonic Dystrophy Type 1 through Omics StudiesJorge Espinosa-Espinosa0Anchel González-Barriga1Arturo López-Castel2Rubén Artero3University Research Institute for Biotechnology and Biomedicine (BIOTECMED), Universidad de Valencia, 46100 Valencia, SpainCentre de Recherche en Myologie, Inserm, Institut de Myologie, Sorbonne Université, 75013 Paris, FranceUniversity Research Institute for Biotechnology and Biomedicine (BIOTECMED), Universidad de Valencia, 46100 Valencia, SpainUniversity Research Institute for Biotechnology and Biomedicine (BIOTECMED), Universidad de Valencia, 46100 Valencia, SpainOmics studies are crucial to improve our understanding of myotonic dystrophy type 1 (DM1), the most common muscular dystrophy in adults. Employing tissue samples and cell lines derived from patients and animal models, omics approaches have revealed the myriad alterations in gene and microRNA expression, alternative splicing, 3′ polyadenylation, CpG methylation, and proteins levels, among others, that contribute to this complex multisystem disease. In addition, omics characterization of drug candidate treatment experiments provides crucial insight into the degree of therapeutic rescue and off-target effects that can be achieved. Finally, several innovative technologies such as single-cell sequencing and artificial intelligence will have a significant impact on future DM1 research.https://www.mdpi.com/1422-0067/23/3/1441transcriptomicsproteomicsalternative splicingalternative polyadenylationexpanded CUG repeatsgene expression |
| spellingShingle | Jorge Espinosa-Espinosa Anchel González-Barriga Arturo López-Castel Rubén Artero Deciphering the Complex Molecular Pathogenesis of Myotonic Dystrophy Type 1 through Omics Studies International Journal of Molecular Sciences transcriptomics proteomics alternative splicing alternative polyadenylation expanded CUG repeats gene expression |
| title | Deciphering the Complex Molecular Pathogenesis of Myotonic Dystrophy Type 1 through Omics Studies |
| title_full | Deciphering the Complex Molecular Pathogenesis of Myotonic Dystrophy Type 1 through Omics Studies |
| title_fullStr | Deciphering the Complex Molecular Pathogenesis of Myotonic Dystrophy Type 1 through Omics Studies |
| title_full_unstemmed | Deciphering the Complex Molecular Pathogenesis of Myotonic Dystrophy Type 1 through Omics Studies |
| title_short | Deciphering the Complex Molecular Pathogenesis of Myotonic Dystrophy Type 1 through Omics Studies |
| title_sort | deciphering the complex molecular pathogenesis of myotonic dystrophy type 1 through omics studies |
| topic | transcriptomics proteomics alternative splicing alternative polyadenylation expanded CUG repeats gene expression |
| url | https://www.mdpi.com/1422-0067/23/3/1441 |
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