Author:
Velho Renata Voltolini,Ludwig Nataniel Floriano,Alegra Taciane,Sperb-Ludwig Fernanda,Guarany Nicole Ruas,Matte Ursula,Schwartz Ida V D
Publisher
Springer Science and Business Media LLC
Subject
Genetics (clinical),Genetics
Reference46 articles.
1. De Duve, C., Pressman, B., Gianetto, R., Wattiaux, R. & Appelmans, F. Tissue fractionation studies. 6. Intracellular distribution patterns of enzymes in rat-liver tissue. Biochem. J. 60, 604–617 (1955).
2. Braulke, T. & Bonifacino, J. S. Sorting of lysosomal proteins. Biochim. Biophys. Acta 1793, 605–614 (2009).
3. Braulke, T., Raas-Rothschild, A. & Kornfeld, S. I-cell disease and pseudo-Hurler polydystrophy: disorders of lysosomal enzyme phosphorylation and localization. In The Online Metabolic and Molecular Bases of Inherited Disease (eds Val D., Beaudet A., Vogelstein B., Kinzler K., Antonarakis S., Ballabio A., et al.), (The McGraw-Hill Companies, New York, NY, USA, 2013).
4. 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).
5. Tiede, S., Muschol, N., Reutter, G., Cantz, M., Ullrich, K., Braulke, T. et al. Missense mutations in N-acetylglucosamine-1-phosphotransferase alpha/beta subunit gene in a patient with mucolipidosis III and a mild clinical phenotype. Am. J. Med. Genet. A 137A, 235–240 (2005).
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