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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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書目詳細資料
Main Authors: van Meel, Eline, Qian, Yi, Kornfeld, Stuart A.
格式: Artigo
語言:Inglês
出版: National Academy of Sciences 2014
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在線閱讀: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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