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Results 1 - 10 of 42 > >>
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EC Number BRENDA No. Title Journal Volume Pages Year Organism PubMed ID
Display the word mapDisplay the reaction diagram Show all sequences 2.7.8.17760799 A GNPTAB nonsense variant is associated with feline mucolipidosis II (I-cell disease) BMC Vet. Res. 14 416 2018 Felis catus 30591066
Display the word mapDisplay the reaction diagram Show all sequences 2.7.8.17761229 Disease-causing missense mutations within the N-terminal transmembrane domain of GlcNAc-1-phosphotransferase impair endoplasmic reticulum translocation or Golgi retention Hum. Mutat. 41 1321-1328 2020 Homo sapiens 32220096
Display the word mapDisplay the reaction diagram Show all sequences 2.7.8.17761904 Lysosomal proteome and secretome analysis identifies missorted enzymes and their nondegraded substrates in mucolipidosis III mouse cells Mol. Cell. Proteomics 17 1612-1626 2018 Mus musculus 29773673
Display the word mapDisplay the reaction diagram Show all sequences 2.7.8.17761082 Role of spacer-1 in the maturation and function of GlcNAc-1-phosphotransferase FEBS Lett. 591 47-55 2017 Homo sapiens 27981560
Display the word mapDisplay the reaction diagram Show all sequences 2.7.8.17761228 The lysosomal storage disorders mucolipidosis type II, type III alpha/beta, and type III gamma Update on GNPTAB and GNPTG mutations Hum. Mutat. 40 842-864 2019 Homo sapiens 30882951
Display the word mapDisplay the reaction diagram Show all sequences 2.7.8.17739081 AAV8-mediated expression of N-acetylglucosamine-1-phosphate transferase attenuates bone loss in a mouse model of mucolipidosis II Mol. Genet. Metab. 117 447-455 2016 Mus musculus 26857995
Display the word mapDisplay the reaction diagram Show all sequences 2.7.8.17722362 Alg14 organizes the formation of a multiglycosyltransferase complex involved in initiation of lipid-linked oligosaccharide biosynthesis Glycobiology 22 504-516 2012 Saccharomyces cerevisiae 22061998
Display the word mapDisplay the reaction diagram Show all sequences 2.7.8.17738351 Analyses of disease-related GNPTAB mutations define a novel GlcNAc-1-phosphotransferase interaction domain and an alternative site-1 protease cleavage site Hum. Mol. Genet. 24 3497-3505 2015 Homo sapiens 25788519
Display the word mapDisplay the reaction diagram Show all sequences 2.7.8.17738667 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 J. Biol. Chem. 290 3045-3056 2015 Danio rerio 25505245
Display the word mapDisplay the reaction diagram Show all sequences 2.7.8.17738667 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 J. Biol. Chem. 290 3045-3056 2015 Homo sapiens 25505245
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