Analyses of disease-related GNPTAB mutations define a novel GlcNAc-1-phosphotransferase interaction domain and an alternative site-1 protease cleavage site

Mucolipidosis II (MLII) and III alpha/beta are autosomal-recessive diseases of childhood caused by mutations in GNPTAB encoding the α/β-subunit precursor protein of the GlcNAc-1-phosphotransferase complex. This enzyme modifies lysosomal hydrolases with mannose 6-phosphate targeting signals. Upon arr...

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Bibliografiska uppgifter
I publikationen:Hum Mol Genet
Huvudupphovsmän: Velho, Renata Voltolini, De Pace, Raffaella, Klünder, Sarah, Sperb-Ludwig, Fernanda, Lourenço, Charles Marques, Schwartz, Ida V. D., Braulke, Thomas, Pohl, Sandra
Materialtyp: Artigo
Språk:Inglês
Publicerad: Oxford University Press 2015
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Articles
Länkar:https://ncbi.nlm.nih.gov/pmc/articles/PMC4498157/
https://ncbi.nlm.nih.gov/pubmed/25788519
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddv100
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