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Li, V. GLB1 Gene. Encyclopedia. Available online: https://encyclopedia.pub/entry/5664 (accessed on 21 September 2026).
Li V. GLB1 Gene. Encyclopedia. Available at: https://encyclopedia.pub/entry/5664. Accessed September 21, 2026.
Li, Vivi. "GLB1 Gene" Encyclopedia, https://encyclopedia.pub/entry/5664 (accessed September 21, 2026).
Li, V. (2020, December 25). GLB1 Gene. In Encyclopedia. https://encyclopedia.pub/entry/5664
Li, Vivi. "GLB1 Gene." Encyclopedia. Web. 25 December, 2020.
Copy Citation
Galactosidase beta 1
genes
References
- Brunetti-Pierri N, Scaglia F. GM1 gangliosidosis: review of clinical,molecular, and therapeutic aspects. Mol Genet Metab. 2008 Aug;94(4):391-6. doi:10.1016/j.ymgme.2008.04.012.
- Duca L, Blanchevoye C, Cantarelli B, Ghoneim C, Dedieu S, Delacoux F,Hornebeck W, Hinek A, Martiny L, Debelle L. The elastin receptor complextransduces signals through the catalytic activity of its Neu-1 subunit. J BiolChem. 2007 Apr 27;282(17):12484-91.
- Hofer D, Paul K, Fantur K, Beck M, Bürger F, Caillaud C, Fumic K, Ledvinova J,Lugowska A, Michelakakis H, Radeva B, Ramaswami U, Plecko B, Paschke E. GM1gangliosidosis and Morquio B disease: expression analysis of missense mutationsaffecting the catalytic site of acid beta-galactosidase. Hum Mutat. 2009Aug;30(8):1214-21. doi: 10.1002/humu.21031.
- Hofer D, Paul K, Fantur K, Beck M, Roubergue A, Vellodi A, Poorthuis BJ,Michelakakis H, Plecko B, Paschke E. Phenotype determining alleles in GM1gangliosidosis patients bearing novel GLB1 mutations. Clin Genet. 2010Sep;78(3):236-46. doi: 10.1111/j.1399-0004.2010.01379.x.
- Santamaria R, Chabás A, Callahan JW, Grinberg D, Vilageliu L. Expression andcharacterization of 14 GLB1 mutant alleles found in GM1-gangliosidosis andMorquio B patients. J Lipid Res. 2007 Oct;48(10):2275-82.
- Santamaria R, Chabás A, Coll MJ, Miranda CS, Vilageliu L, Grinberg D.Twenty-one novel mutations in the GLB1 gene identified in a large group ofGM1-gangliosidosis and Morquio B patients: possible common origin for theprevalent p.R59H mutation among gypsies. Hum Mutat. 2006 Oct;27(10):1060.
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