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Article

GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidase.

Human mutation - 1 Aug 2009

Hofer Doris, Paul Karl, Fantur Katrin, Beck Michael, Bürger Friederike, Caillaud Catherine, Fumic Ksenija, Ledvinova Jana, Lugowska Agnieszka, Michelakakis Helen, Radeva Briguita, Ramaswami Uma, Plecko Barbara, Paschke Eduard

Abstract excerpt

Alterations in GLB1, the gene coding for acid beta-D-galactosidase (beta-Gal), can result in GM1 gangliosidosis (GM1), a neurodegenerative disorder, or in Morquio B disease (MBD), a phenotype with dysostosis multiplex and normal central nervous system (CNS) function. While most MBD patients carry a common allele, c.817TG>CT (p.W273L), only few of the >100 mutations known in GM1 can be related to a certain...

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Identifiers

PMID: 19472408
DOI: 10.1002/humu.21031

Genes

GLB1

Variants

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidase.PMID 19472408Read ↗

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