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Lysosomal Storage Causes Cellular Dysfunction in Mucolipidosis II Skin Fibroblasts
Mucolipidosis II (ML-II) is a fatal inherited metabolic disease caused by deficiency of GlcNAc-phosphotransferase, which plays a role in generating the mannose 6-phosphate recognition marker on lysosomal enzymes. In ML-II, many lysosomal acid hydrolases are mistargeted out of cells, and lysosomes be...
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| Autori principali: | , , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
American Society for Biochemistry and Molecular Biology
2011
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3186395/ https://ncbi.nlm.nih.gov/pubmed/21846724 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M111.267930 |
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