Author:
Otomo Takanobu,Muramatsu Takeshi,Yorifuji Tohru,Okuyama Torayuki,Nakabayashi Hiroki,Fukao Toshiyuki,Ohura Toshihiro,Yoshino Makoto,Tanaka Akemi,Okamoto Nobuhiko,Inui Koji,Ozono Keiichi,Sakai Norio
Publisher
Springer Science and Business Media LLC
Subject
Genetics(clinical),Genetics
Reference17 articles.
1. Kornfeld, S. & Sly, W. S. I-cell disease and Pseudo-Hurler Polydystrophy: Disorders of lysosomal enzyme phosphorylation and localization. In The Metabolic and Molecular Bases of Inherited Disease (eds Scriver, C. R., Beaudet, A. L., Sly, W. S., Valle, D.) Ch. 138, 3469–3482 (McGraw-Hill, New York, 2001).
2. Bao, M., Booth, J. L., Elmendorf, B. J. & Canfield, W. M. Bovine UDP-N-acetylglucosamine:lysosomal-enzyme N-acetylglucosamine-1-phosphotransferase. I. Purification and subunit structure. J. Biol. Chem. 271, 31437–31445 (1996).
3. Raas-Rothschild, A., Cormier-Daire, V., Bao, M., Genin, E., Salomon, R., Brewer, K. et al. Molecular basis of variant pseudo-hurler polydystrophy (mucolipidosis IIIC). J. Clin. Invest. 105, 673–681 (2000).
4. Cathey, S. S., Kudo, M., Tiede, S., Raas-Rothschild, A., Braulke, T., Beck, M. et al. Molecular order in mucolipidosis II and III nomenclature. Am. J. Med. Genet. A 146A, 512–513 (2008).
5. Kudo, M., Bao, M., D’Souza, A., Ying, F., Pan, H., Roe, B. A. et al. The alpha- and beta-subunits of the human UDP-N-acetylglucosamine:lysosomal enzyme N-acetylglucosamine-1-phosphotransferase [corrected] are encoded by a single cDNA. J. Biol. Chem. 280, 36141–36149 (2005).
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