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Neurologic Abnormalities in Mouse Models of the Lysosomal Storage Disorders Mucolipidosis II and Mucolipidosis III γ
UDP-GlcNAc:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase is an α(2)β(2)γ(2) hexameric enzyme that catalyzes the synthesis of the mannose 6-phosphate targeting signal on lysosomal hydrolases. Mutations in the α/β subunit precursor gene cause the severe lysosomal storage disorder mucolipid...
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| Main Authors: | , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Public Library of Science
2014
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4196941/ https://ncbi.nlm.nih.gov/pubmed/25314316 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0109768 |
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