Identification of Small Molecule Compounds for Pharmacological Chaperone Therapy of Aspartylglucosaminuria
Author:
Publisher
Springer Science and Business Media LLC
Subject
Multidisciplinary
Link
http://www.nature.com/articles/srep37583.pdf
Reference41 articles.
1. Opladen, T. et al. Aspartylglucosaminuria: unusual neonatal presentation in Qatari twins with a novel aspartylglucosaminidase gene mutation and 3 new cases in a Turkish family. J Child Neurol 29, 36–42 (2014).
2. Saarela, J. et al. Molecular pathogenesis of a disease: structural consequences of aspartylglucosaminuria mutations. Hum Mol Genet 10, 983–995 (2001).
3. Ikonen, E. et al. Spectrum of mutations in aspartylglucosaminuria. Proc Natl Acad Sci USA 88, 11222–11226 (1991).
4. Tikkanen, R., Enomaa, N., Riikonen, A., Ikonen, E. & Peltonen, L. Intracellular sorting of aspartylglucosaminidase: the role of N-linked oligosaccharides and evidence of Man-6-P-independent lysosomal targeting. DNA Cell Biol 14, 305–312 (1995).
5. Oinonen, C., Tikkanen, R., Rouvinen, J. & Peltonen, L. Three-dimensional structure of human lysosomal aspartylglucosaminidase. Nat Struct Biol 2, 1102–1108 (1995).
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