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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Detaylı Bibliyografya
Asıl Yazarlar: Idol, Rachel A., Wozniak, David F., Fujiwara, Hideji, Yuede, Carla M., Ory, Daniel S., Kornfeld, Stuart, Vogel, Peter
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: Public Library of Science 2014
Konular:
Research Article
Online Erişim: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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