Gene Review:
NAGLU - N-acetylglucosaminidase, alpha
Homo sapiens
Synonyms:
Alpha-N-acetylglucosaminidase, MPS-IIIB, MPS3B, N-acetyl-alpha-glucosaminidase, NAG, ...
- NAGLU mutations underlying Sanfilippo syndrome type B. Schmidtchen, A., Greenberg, D., Zhao, H.G., Li, H.H., Huang, Y., Tieu, P., Zhao, H.Z., Cheng, S., Zhao, Z., Whitley, C.B., Di Natale, P., Neufeld, E.F. Am. J. Hum. Genet. (1998)
- Expression and characterization of human recombinant and alpha-N-acetylglucosaminidase. Weber, B., Hopwood, J.J., Yogalingam, G. Protein Expr. Purif. (2001)
- MR imaging of the brain in patients with mucopolysaccharidosis. Murata, R., Nakajima, S., Tanaka, A., Miyagi, N., Matsuoka, O., Kogame, S., Inoue, Y. AJNR. American journal of neuroradiology. (1989)
- Identification of 12 novel mutations in the alpha-N-acetylglucosaminidase gene in 14 patients with Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB). Beesley, C.E., Young, E.P., Vellodi, A., Winchester, B.G. J. Med. Genet. (1998)
- Genotype-phenotype correspondence in Sanfilippo syndrome type B. Zhao, H.G., Aronovich, E.L., Whitley, C.B. Am. J. Hum. Genet. (1998)
- The molecular basis of Sanfilippo syndrome type B. Zhao, H.G., Li, H.H., Bach, G., Schmidtchen, A., Neufeld, E.F. Proc. Natl. Acad. Sci. U.S.A. (1996)
- Neurological correction of lysosomal storage in a mucopolysaccharidosis IIIB mouse model by adeno-associated virus-mediated gene delivery. Fu, H., Samulski, R.J., McCown, T.J., Picornell, Y.J., Fletcher, D., Muenzer, J. Mol. Ther. (2002)
- Molecular defects in the alpha-N-acetylglucosaminidase gene in Italian Sanfilippo type B patients. Tessitore, A., Villani, G.R., Di Domenico, C., Filocamo, M., Gatti, R., Di Natale, P. Hum. Genet. (2000)
- Molecular genetics of mucopolysaccharidosis type IIIA and IIIB: Diagnostic, clinical, and biological implications. Yogalingam, G., Hopwood, J.J. Hum. Mutat. (2001)
- Molecular basis of mucopolysaccharidosis type IIIB in emu (Dromaius novaehollandiae): an avian model of Sanfilippo syndrome type B. Aronovich, E.L., Johnston, J.M., Wang, P., Giger, U., Whitley, C.B. Genomics (2001)
- Molecular defects in Sanfilippo syndrome type B (mucopolysaccharidosis IIIB). Beesley, C.E., Jackson, M., Young, E.P., Vellodi, A., Winchester, B.G. J. Inherit. Metab. Dis. (2005)
- Cytokines, neurotrophins, and oxidative stress in brain disease from mucopolysaccharidosis IIIB. Villani, G.R., Gargiulo, N., Faraonio, R., Castaldo, S., Gonzalez Y Reyero, E., Di Natale, P. J. Neurosci. Res. (2007)
- Sanfilippo disease type B. A case report and review of the literature on recent advances in bone marrow transplantation. Güngör, N., Tunçbilek, E. Turk. J. Pediatr. (1995)
- Correction of mucopolysaccharidosis type IIIb fibroblasts by lentiviral vector-mediated gene transfer. Villani, G.R., Follenzi, A., Vanacore, B., Di Domenico, C., Naldini, L., Di Natale, P. Biochem. J. (2002)
- Sanfilippo syndrome in Turkey: Identification of novel mutations in subtypes A and B. Emre, S., Terzioglu, M., Tokatli, A., Coskun, T., Ozalp, I., Weber, B., Hopwood, J.J. Hum. Mutat. (2002)