Associated Papers
Clinical, Radiological, and Genetic Profiles of Eight Patients with Combined Dystonic Manifestation of Type-III GM1 Gangliosidosis: A Video Case Series from India.
Roy S et al.
Tremor and Other Hyperkinetic Movements (new York, N.y.), 2026
A PIKfyve modulator combined with an integrated stress response inhibitor to treat lysosomal storage diseases.
Hou WC et al.
Proceedings of the National Academy of Sciences of the United States of America, 2024
Gene therapy approaches for GM1 gangliosidosis: Focus on animal and cellular studies.
Hosseini K et al.
Cell Biochemistry and Function, 2023
Long-range PCR amplification-based targeted enrichment & next generation sequencing: A cost-effective testing strategy for lysosomal storage disorders.
Vanaja MC et al.
The Indian Journal of Medical Research, 2023
A Comprehensive, Targeted NGS Approach to Assessing Molecular Diagnosis of Lysosomal Storage Diseases.
La Cognata V et al.
Genes, 2021
A computational approach to analyse the amino acid variants of GLB1 protein causing GM1 Gangliosidosis.
Priyanka K et al.
Metabolic Brain Disease, 2021
GM1 Gangliosidosis: Mechanisms and Management.
Rha AK et al.
The Application of Clinical Genetics, 2021
Substrate reduction therapy with Miglustat in pediatric patients with GM1 type 2 gangliosidosis delays neurological involvement: A multicenter experience.
Fischetto R et al.
Molecular Genetics & Genomic Medicine, 2020
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
Morquio-B disease: Clinical and genetic characteristics of a distinct GLB1-related dysostosis multiplex.
Abumansour IS et al.
Jimd Reports, 2020
Advances in the Development of Pharmacological Chaperones for the Mucopolysaccharidoses.
Losada Díaz JC et al.
International Journal of Molecular Sciences, 2019
Pre-diagnosing and managing patients with GM1 gangliosidosis and related disorders by the evaluation of GM1 ganglioside content.
Tonin R et al.
Scientific Reports, 2019
SAAMP 2.0: An algorithm to predict genotype-phenotype correlation of lysosomal storage diseases.
Ou L et al.
Clinical Genetics, 2018
Case reports of juvenile GM1 gangliosidosisis type II caused by mutation in GLB1 gene.
Karimzadeh P et al.
Bmc Medical Genetics, 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
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
Genotypic and phenotypic characterization of Brazilian patients with GM1 gangliosidosis.
Sperb F et al.
Gene, 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
GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings.
Caciotti A et al.
Biochimica Et Biophysica Acta, 2011
GM1 gangliosidosis: molecular analysis of nine patients and development of an RT-PCR assay for GLB1 gene expression profiling.
Caciotti A et al.
Human Mutation, 2007
Elastogenesis in cultured dermal fibroblasts from patients with lysosomal beta-galactosidase, protective protein/cathepsin A and neuraminidase-1 deficiencies.
Tatano Y et al.
The Journal of Medical Investigation : Jmi, 2006
Role of beta-galactosidase and elastin binding protein in lysosomal and nonlysosomal complexes of patients with GM1-gangliosidosis.
Caciotti A et al.
Human Mutation, 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
Four novel mutations in patients from the Middle East with the infantile form of GM1-gangliosidosis.
Georgiou T et al.
Human Mutation, 2004
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
Impaired elastic-fiber assembly by fibroblasts from patients with either Morquio B disease or infantile GM1-gangliosidosis is linked to deficiency in the 67-kD spliced variant of beta-galactosidase.
Hinek A et al.
American Journal of Human Genetics, 2000
beta-galactosidase gene mutations affecting the lysosomal enzyme and the elastin-binding protein in GM1-gangliosidosis patients with cardiac involvement.
Morrone A et al.
Human Mutation, 2000
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
Intracellular processing and maturation of mutant gene products in hereditary beta-galactosidase deficiency (beta-galactosidosis).
Oshima A et al.
Human Genetics, 1994
A beta-galactosidase gene mutation identified in both Morquio B disease and infantile GM1 gangliosidosis.
Suzuki Y et al.
Human Genetics, 1993
[Ultrastructure of skin fibroblasts in storage diseases (mucopolysaccharidosis types IV and VI)].
Bruskina VIa et al.
Tsitologiia I Genetika, 0