GM1 Gangliosidosis

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Xu, C. GM1 Gangliosidosis. Encyclopedia. Available online: https://encyclopedia.pub/entry/3939 (accessed on 28 September 2026).

Xu C. GM1 Gangliosidosis. Encyclopedia. Available at: https://encyclopedia.pub/entry/3939. Accessed September 28, 2026.

Xu, Camila. "GM1 Gangliosidosis" Encyclopedia, https://encyclopedia.pub/entry/3939 (accessed September 28, 2026).

Xu, C. (2020, December 23). GM1 Gangliosidosis. In Encyclopedia. https://encyclopedia.pub/entry/3939

Xu, Camila. "GM1 Gangliosidosis." Encyclopedia. Web. 23 December, 2020.

GM1 Gangliosidosis

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/gm1-gangliosidosis

GM1 gangliosidosis is an inherited disorder that progressively destroys nerve cells (neurons) in the brain and spinal cord.

genetic conditions

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.
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.
Sperb F, Vairo F, Burin M, Mayer FQ, Matte U, Giugliani R. Genotypic andphenotypic characterization of Brazilian patients with GM1 gangliosidosis. Gene. 2013 Jan 1;512(1):113-6. doi: 10.1016/j.gene.2012.09.106.

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Subjects: Genetics & Heredity

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Update Date: 23 Dec 2020

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