PMC Links for GEO Profiles (Select 39463544) - PMC

Select item 44981571.

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

Renata Voltolini Velho, Raffaella De Pace, Sarah Klünder, Fernanda Sperb-Ludwig, Charles Marques Lourenço, Ida V. D. Schwartz, Thomas Braulke, Sandra Pohl

Hum Mol Genet. 2015 Jun 15; 24(12): 3497–3505. Published online 2015 Mar 18. doi: 10.1093/hmg/ddv100

PMCID:: PMC4498157

Abstract Article PDF–708K

Select item 43170332.

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

Yi Qian, Eline van Meel, Heather Flanagan-Steet, Alex Yox, Richard Steet, Stuart Kornfeld

J Biol Chem. 2015 Jan 30; 290(5): 3045–3056. Published online 2014 Dec 11. doi: 10.1074/jbc.M114.612507

PMCID:: PMC4317033

Abstract Article PDF–2.4M

Select item 36908903.

The DMAP interaction domain of UDP-GlcNAc:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase is a substrate recognition module

Yi Qian, Heather Flanagan-Steet, Eline van Meel, Richard Steet, Stuart A. Kornfeld

Proc Natl Acad Sci U S A. 2013 Jun 18; 110(25): 10246–10251. Published online 2013 Jun 3. doi: 10.1073/pnas.1308453110

PMCID:: PMC3690890

Abstract Article PDF–572K

Select item 31780594.

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas

Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042

PMCID:: PMC3178059

Abstract Article PDF–1.0M

Select item 28234535.

Functions of the α, β, and γ Subunits of UDP-GlcNAc:Lysosomal Enzyme N-Acetylglucosamine-1-phosphotransferase

Yi Qian, Intaek Lee, Wang-Sik Lee, Meiqian Qian, Mariko Kudo, William M. Canfield, Peter Lobel, Stuart Kornfeld

J Biol Chem. 2010 Jan 29; 285(5): 3360–3370. Published online 2009 Dec 2. doi: 10.1074/jbc.M109.068650

PMCID:: PMC2823453

Abstract Article PDF–1004K

Select item 27621396.

Mice Lacking Mannose 6-Phosphate Uncovering Enzyme Activity Have a Milder Phenotype than Mice Deficient for N-Acetylglucosamine-1-Phosphotransferase Activity

Marielle Boonen, Peter Vogel, Kenneth A. Platt, Nancy Dahms, Stuart Kornfeld

Mol Biol Cell. 2009 Oct 15; 20(20): 4381–4389. doi: 10.1091/mbc.E09-05-0398

PMCID:: PMC2762139

Abstract Article PDF–686K

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