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Mislocalization of phosphotransferase as a cause of mucolipidosis III αβ
The lysosomal storage disorder mucolipidosis III αβ is caused by mutations in the αβ subunits of UDP-GlcNAc:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase (phosphotransferase). This Golgi-localized enzyme mediates the first step in the synthesis of the mannose 6-phosphate recognition mark...
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| Main Authors: | , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
National Academy of Sciences
2014
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3948257/ https://ncbi.nlm.nih.gov/pubmed/24550498 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1401417111 |
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