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Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development
The post-translational modification of proteins through the addition of UFM1, also known as ufmylation, plays a critical developmental role as revealed by studies in animal models. The recent finding that biallelic mutations in UBA5 (the E1-like enzyme for ufmylation) cause severe early-onset enceph...
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| 發表在: | Brain |
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| Main Authors: | , , , , , , , , , , , , , , , , , , , , , , , , , , |
| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
Oxford University Press
2018
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6022668/ https://ncbi.nlm.nih.gov/pubmed/29868776 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/brain/awy135 |
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