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Article

DLHex-DGJ, a novel derivative of 1-deoxygalactonojirimycin with pharmacological chaperone activity in human G(M1)-gangliosidosis fibroblasts.

Molecular genetics and metabolism - 1 Jul 2010

Fantur Katrin, Hofer Doris, Schitter Georg, Steiner Andreas J, Pabst Bettina M, Wrodnigg Tanja M, Stütz Arnold E, Paschke Eduard

Abstract excerpt

G(M1)-gangliosidosis (GM1) and Morquio B disease (MBD) are rare lysosomal storage disorders caused by mutations in the gene GLB1. Its main gene product, human acid beta-galactosidase (beta-Gal) degrades two functionally important molecules, G(M1)-ganglioside and keratan sulfate in brain and connective tissues, respectively. While GM1 is a severe, phenotypically heterogenous neurodegenerative disorder, MBD is a...

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Source

Identifiers

PMID: 20409738
DOI: 10.1016/j.ymgme.2010.03.019

Genes

GLB1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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