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Analysis of Mannose 6-Phosphate Uncovering Enzyme Mutations Associated with Persistent Stuttering
GlcNAc-1-phosphodiester-N-acetylglucosaminidase (“uncovering enzyme” (UCE); EC 3.1.4.45) is a Golgi enzyme that mediates the second step in the synthesis of the mannose 6-phosphate lysosomal targeting signal on acid hydrolases. Recently, three mutations (two missense and one deletion/frameshift) in...
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| Main Authors: | , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
American Society for Biochemistry and Molecular Biology
2011
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3220557/ https://ncbi.nlm.nih.gov/pubmed/21956109 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M111.295899 |
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