A carregar...
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...
Na minha lista:
| Publicado no: | FEBS Lett |
|---|---|
| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
John Wiley and Sons Inc.
2020
|
| Assuntos: | |
| Acesso em linha: | 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 |
| Tags: |
Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!
|