Associated Papers
From Molecule to Meaning: Neuronopathic Biomarkers and Clinical Relevance in GM1.
Casazza K et al.
Journal of Inherited Metabolic Disease, 2026
Chaperone therapy: Stabilization and enhancement of endogenous and exogenous lysosomal enzymes.
Suzuki Y
Brain & Development, 2025
Lysosomal storage disorders identified in adult population from India: Experience of a tertiary genetic centre and review of literature.
Sheth J et al.
Jimd Reports, 2024
Gene therapy approaches for GM1 gangliosidosis: Focus on animal and cellular studies.
Hosseini K et al.
Cell Biochemistry and Function, 2023
Validation of a highly sensitive HaloTag-based assay to evaluate the potency of a novel class of allosteric β-Galactosidase correctors.
Rudinskiy M et al.
Plos One, 2023
Pharmacological Chaperones for β-Galactosidase Related to GM1 -Gangliosidosis and Morquio B: Recent Advances.
Stütz AE et al.
Chemical Record (new York, N.y.), 2021
GM1 Gangliosidosis: Mechanisms and Management.
Rha AK et al.
The Application of Clinical Genetics, 2021
An autopsy case of GM1 gangliosidosis type II in a patient who survived a long duration with artificial respiratory support.
Uchino A et al.
Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2020
Novel Drug Candidates Improve Ganglioside Accumulation and Neural Dysfunction in GM1 Gangliosidosis Models with Autophagy Activation.
Kajihara R et al.
Stem Cell Reports, 2020
Advances in the Development of Pharmacological Chaperones for the Mucopolysaccharidoses.
Losada Díaz JC et al.
International Journal of Molecular Sciences, 2019
SAAMP 2.0: An algorithm to predict genotype-phenotype correlation of lysosomal storage diseases.
Ou L et al.
Clinical Genetics, 2018
The treatment of juvenile/adult GM1-gangliosidosis with Miglustat may reverse disease progression.
Deodato F et al.
Metabolic Brain Disease, 2017
Lysosomal storage diseases.
Ferreira CR et al.
Translational Science of Rare Diseases, 2017
(5aR)-5a-C-Pentyl-4-epi-isofagomine: A powerful inhibitor of lysosomal β-galactosidase and a remarkable chaperone for mutations associated with GM1-gangliosidosis and Morquio disease type B.
Front S et al.
European Journal of Medicinal Chemistry, 2017
Glycomimetic-based pharmacological chaperones for lysosomal storage disorders: lessons from Gaucher, GM1-gangliosidosis and Fabry diseases.
Sánchez-Fernández EM et al.
Chemical Communications (cambridge, England), 2016
Structural basis of pharmacological chaperoning for human β-galactosidase.
Suzuki H et al.
The Journal of Biological Chemistry, 2014
A bicyclic 1-deoxygalactonojirimycin derivative as a novel pharmacological chaperone for GM1 gangliosidosis.
Takai T et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2013
Beta-galactosidase deficiencies and novel GLB1 mutations in three Chinese patients with Morquio B disease or GM1 gangliosidosis.
Lei HL et al.
World Journal of Pediatrics : Wjp, 2012
Evaluation of N-nonyl-deoxygalactonojirimycin as a pharmacological chaperone for human GM1 gangliosidosis leads to identification of a feline model suitable for testing enzyme enhancement therapy.
Rigat BA et al.
Molecular Genetics and Metabolism, 2012
[GLB1 gene mutation and clinical characteristics of a patient with mucopolysaccharidosis type IVB].
Lei HL et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2012
Four novel mutations in the β-galactosidase gene identified in infantile type of GM1 gangliosidosis.
Celtikçi B et al.
Clinical Biochemistry, 2012
Chemical chaperone therapy: luciferase assay for screening of β-galactosidase mutations.
Li L et al.
Molecular Genetics and Metabolism, 2010
Phenotype determining alleles in GM1 gangliosidosis patients bearing novel GLB1 mutations.
Hofer D et al.
Clinical Genetics, 2010
DLHex-DGJ, a novel derivative of 1-deoxygalactonojirimycin with pharmacological chaperone activity in human G(M1)-gangliosidosis fibroblasts.
Fantur K et al.
Molecular Genetics and Metabolism, 2010
Structural bases of GM1 gangliosidosis and Morquio B disease.
Morita M et al.
Journal of Human Genetics, 2009
Mutant alpha-galactosidase A enzymes identified in Fabry disease patients with residual enzyme activity: biochemical characterization and restoration of normal intracellular processing by 1-deoxygalactonojirimycin.
Ishii S et al.
The Biochemical Journal, 2007
Fibroblast screening for chaperone therapy in beta-galactosidosis.
Iwasaki H et al.
Brain & Development, 2006
Dystonia and parkinsonism in GM1 type 3 gangliosidosis.
Roze E et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2005
Defining the breakpoints of the quaking(viable) mouse mutation reveals a duplication from a Parkin intron.
Dapper JD et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2005
The Arg482His mutation in the beta-galactosidase gene is responsible for a high frequency of GM1 gangliosidosis carriers in a Cypriot village.
Georgiou T et al.
Genetic Testing, 2005
Clinical features of adult GM1 gangliosidosis: report of three Indian patients and review of 40 cases.
Muthane U et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2004
Critical regions of secM that control its translation and secretion and promote secretion-specific secA regulation.
Sarker S et al.
Journal of Bacteriology, 2002
Galactonojirimycin derivatives restore mutant human beta-galactosidase activities expressed in fibroblasts from enzyme-deficient knockout mouse.
Tominaga L et al.
Brain & Development, 2001
Mutation analyses in 17 patients with deficiency in acid beta-galactosidase: three novel point mutations and high correlation of mutation W273L with Morquio disease type B.
Paschke E et al.
Human Genetics, 2001
Molecular basis of GM1 gangliosidosis and Morquio disease, type B. Structure-function studies of lysosomal beta-galactosidase and the non-lysosomal beta-galactosidase-like protein.
Callahan JW
Biochimica Et Biophysica Acta, 1999
beta-Galactosidase gene mutations in patients with slowly progressive GM1 gangliosidosis.
Kaye EM et al.
Journal of Child Neurology, 1997
Identification of Glu-268 as the catalytic nucleophile of human lysosomal beta-galactosidase precursor by mass spectrometry.
McCarter JD et al.
The Journal of Biological Chemistry, 1997
Clinical and molecular analysis of a Japanese boy with Morquio B disease.
Ishii N et al.
Clinical Genetics, 1995
Normal serum beta-galactosidase in juvenile GM1 gangliosidosis.
Ishii N et al.
Pediatric Neurology, 1994
Intracellular processing and maturation of mutant gene products in hereditary beta-galactosidase deficiency (beta-galactosidosis).
Oshima A et al.
Human Genetics, 1994