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A missense mutation in a patient with developmental delay affects the activity and structure of the hexosamine biosynthetic pathway enzyme AGX1
O‐GlcNAcylation is a post‐translational modification catalysed by O‐GlcNAc transferase (OGT). Missense mutations in OGT have been associated with developmental disorders, OGT‐linked congenital disorder of glycosylation (OGT‐CDG), which are characterized by intellectual disability. OGT relies on the...
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| 出版年: | FEBS Lett |
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| 主要な著者: | , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
John Wiley and Sons Inc.
2020
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7839538/ https://ncbi.nlm.nih.gov/pubmed/33098688 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/1873-3468.13968 |
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