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Analysis of Mucolipidosis II/III GNPTAB Missense Mutations Identifies Domains of UDP-GlcNAc:lysosomal Enzyme GlcNAc-1-phosphotransferase Involved in Catalytic Function and Lysosomal Enzyme Recognition

UDP-GlcNAc:lysosomal enzyme GlcNAc-1-phosphotransferase tags newly synthesized lysosomal enzymes with mannose 6-phosphate recognition markers, which are required for their targeting to the endolysosomal system. GNPTAB encodes the α and β subunits of GlcNAc-1-phosphotransferase, and mutations in this...

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Detalhes bibliográficos
Publicado no:J Biol Chem
Main Authors: Qian, Yi, van Meel, Eline, Flanagan-Steet, Heather, Yox, Alex, Steet, Richard, Kornfeld, Stuart
Formato: Artigo
Idioma:Inglês
Publicado em: American Society for Biochemistry and Molecular Biology 2015
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4317033/
https://ncbi.nlm.nih.gov/pubmed/25505245
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1074/jbc.M114.612507
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