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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.
J Biol Chem. 2015 Jan 30;290(5):3045-56. doi: 10.1074/jbc.M114.612507. Epub 2014 Dec 11.
J Biol Chem. 2015.
PMID: 25505245
Free PMC article.
Evaluation of AAV-mediated Gene Therapy for Central Nervous System Disease in Canine Mucopolysaccharidosis VII.
Gurda BL, De Guilhem De Lataillade A, Bell P, Zhu Y, Yu H, Wang P, Bagel J, Vite CH, Sikora T, Hinderer C, Calcedo R, Yox AD, Steet RA, Ruane T, O'Donnell P, Gao G, Wilson JM, Casal M, Ponder KP, Haskins ME.
Gurda BL, et al. Among authors: yox ad.
Mol Ther. 2016 Feb;24(2):206-216. doi: 10.1038/mt.2015.189. Epub 2015 Oct 8.
Mol Ther. 2016.
PMID: 26447927
Free PMC article.
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