A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders
Protein ubiquitination is a posttranslational modification that plays an integral part in mediating diverse cellular functions. The process of protein ubiquitination requires an enzymatic cascade that consists of a ubiquitin activating enzyme (E1), ubiquitin conjugating enzyme (E2) and an E3 ubiquit...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2018-02-01
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| Series: | Frontiers in Genetics |
| Subjects: | |
| Online Access: | http://journal.frontiersin.org/article/10.3389/fgene.2018.00029/full |
| _version_ | 1818935736771018752 |
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| author | Arlene J. George Yarely C. Hoffiz Antoinette J. Charles Ying Zhu Angela M. Mabb |
| author_facet | Arlene J. George Yarely C. Hoffiz Antoinette J. Charles Ying Zhu Angela M. Mabb |
| author_sort | Arlene J. George |
| collection | DOAJ |
| description | Protein ubiquitination is a posttranslational modification that plays an integral part in mediating diverse cellular functions. The process of protein ubiquitination requires an enzymatic cascade that consists of a ubiquitin activating enzyme (E1), ubiquitin conjugating enzyme (E2) and an E3 ubiquitin ligase (E3). There are an estimated 600–700 E3 ligase genes representing ~5% of the human genome. Not surprisingly, mutations in E3 ligase genes have been observed in multiple neurological conditions. We constructed a comprehensive atlas of disrupted E3 ligase genes in common (CND) and rare neurological diseases (RND). Of the predicted and known human E3 ligase genes, we found ~13% were mutated in a neurological disorder with 83 total genes representing 70 different types of neurological diseases. Of the E3 ligase genes identified, 51 were associated with an RND. Here, we provide an updated list of neurological disorders associated with E3 ligase gene disruption. We further highlight research in these neurological disorders and discuss the advanced technologies used to support these findings. |
| first_indexed | 2024-12-20T05:24:55Z |
| format | Article |
| id | doaj.art-4d13bdf0d045472a91b3afd12ccf6e0f |
| institution | Directory Open Access Journal |
| issn | 1664-8021 |
| language | English |
| last_indexed | 2024-12-20T05:24:55Z |
| publishDate | 2018-02-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Genetics |
| spelling | doaj.art-4d13bdf0d045472a91b3afd12ccf6e0f2022-12-21T19:51:54ZengFrontiers Media S.A.Frontiers in Genetics1664-80212018-02-01910.3389/fgene.2018.00029308113A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological DisordersArlene J. George0Yarely C. Hoffiz1Antoinette J. Charles2Ying Zhu3Angela M. Mabb4Neuroscience Institute, Georgia State University, Atlanta, GA, United StatesNeuroscience Institute, Georgia State University, Atlanta, GA, United StatesNeuroscience Institute, Georgia State University, Atlanta, GA, United StatesCreative Media Industries Institute & Department of Computer Science, Georgia State University, Atlanta, GA, United StatesNeuroscience Institute, Georgia State University, Atlanta, GA, United StatesProtein ubiquitination is a posttranslational modification that plays an integral part in mediating diverse cellular functions. The process of protein ubiquitination requires an enzymatic cascade that consists of a ubiquitin activating enzyme (E1), ubiquitin conjugating enzyme (E2) and an E3 ubiquitin ligase (E3). There are an estimated 600–700 E3 ligase genes representing ~5% of the human genome. Not surprisingly, mutations in E3 ligase genes have been observed in multiple neurological conditions. We constructed a comprehensive atlas of disrupted E3 ligase genes in common (CND) and rare neurological diseases (RND). Of the predicted and known human E3 ligase genes, we found ~13% were mutated in a neurological disorder with 83 total genes representing 70 different types of neurological diseases. Of the E3 ligase genes identified, 51 were associated with an RND. Here, we provide an updated list of neurological disorders associated with E3 ligase gene disruption. We further highlight research in these neurological disorders and discuss the advanced technologies used to support these findings.http://journal.frontiersin.org/article/10.3389/fgene.2018.00029/fullubiquitinneurologicalrare diseasesangelman syndrometransgenic |
| spellingShingle | Arlene J. George Yarely C. Hoffiz Antoinette J. Charles Ying Zhu Angela M. Mabb A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders Frontiers in Genetics ubiquitin neurological rare diseases angelman syndrome transgenic |
| title | A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders |
| title_full | A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders |
| title_fullStr | A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders |
| title_full_unstemmed | A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders |
| title_short | A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders |
| title_sort | comprehensive atlas of e3 ubiquitin ligase mutations in neurological disorders |
| topic | ubiquitin neurological rare diseases angelman syndrome transgenic |
| url | http://journal.frontiersin.org/article/10.3389/fgene.2018.00029/full |
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