Associated Papers
A GLB1 transgene with enhanced therapeutic potential for the preclinical development of ex-vivo gene therapy to treat mucopolysaccharidosis type IVB.
Crippa S et al.
Molecular Therapy. Methods & Clinical Development, 2024
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
Enhanced Efficiency of the Basal and Induced Apoptosis Process in Mucopolysaccharidosis IVA and IVB Human Fibroblasts.
Brokowska J et al.
International Journal of Molecular Sciences, 2023
Decreased Levels of Chaperones in Mucopolysaccharidoses and Their Elevation as a Putative Auxiliary Therapeutic Approach.
Żabińska M et al.
Pharmaceutics, 2023
ONT long-read WGS for variant discovery and orthogonal confirmation of short read WGS derived genetic variants in clinical genetic testing.
Kaplun L et al.
Frontiers in Genetics, 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
Processed pseudogene insertion in GLB1 causes Morquio B disease by altering intronic splicing regulatory landscape.
Bychkov I et al.
Npj Genomic Medicine, 2022
Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency.
Tebani A et al.
Journal of Medical Genetics, 2022
Complex Changes in the Efficiency of the Expression of Many Genes in Monogenic Diseases, Mucopolysaccharidoses, May Arise from Significant Disturbances in the Levels of Factors Involved in the Gene Expression Regulation Processes.
Cyske Z et al.
Genes, 2022
Impaired ion homeostasis as a possible associate factor in mucopolysaccharidosis pathogenesis: transcriptomic, cellular and animal studies.
Gaffke L et al.
Metabolic Brain Disease, 2022
A Comprehensive, Targeted NGS Approach to Assessing Molecular Diagnosis of Lysosomal Storage Diseases.
La Cognata V et al.
Genes, 2021
Morquio-like dysostosis multiplex presenting with neuronopathic features is a distinct GLB1-related phenotype.
Stockler-Ipsiroglu S et al.
Jimd Reports, 2021
A GM1 gangliosidosis mutant mouse model exhibits activated microglia and disturbed autophagy.
Liu S et al.
Experimental Biology and Medicine (maywood, N.j.), 2021
Are GMI gangliosidosis and Morquio type B two different disorders or part of one phenotypic spectrum?
Kingma SDK et al.
Jimd Reports, 2021
Gene Expression-Related Changes in Morphologies of Organelles and Cellular Component Organization in Mucopolysaccharidoses.
Gaffke L et al.
International Journal of Molecular Sciences, 2021
Expression of genes involved in apoptosis is dysregulated in mucopolysaccharidoses as revealed by pilot transcriptomic analyses.
Brokowska J et al.
Cell Biology International, 2021
A computational approach to analyse the amino acid variants of GLB1 protein causing GM1 Gangliosidosis.
Priyanka K et al.
Metabolic Brain Disease, 2021
Epidemiology of Mucopolysaccharidoses Update.
Çelik B et al.
Diagnostics (basel, Switzerland), 2021
GM1 Gangliosidosis: Mechanisms and Management.
Rha AK et al.
The Application of Clinical Genetics, 2021
Morquio B Disease. Disease Characteristics and Treatment Options of a Distinct GLB1-Related Dysostosis Multiplex.
Yuskiv N et al.
International Journal of Molecular Sciences, 2020
Transcriptomic Changes Related to Cellular Processes with Particular Emphasis on Cell Activation in Lysosomal Storage Diseases from the Group of Mucopolysaccharidoses.
Rintz E et al.
International Journal of Molecular Sciences, 2020
Setup and Validation of a Targeted Next-Generation Sequencing Approach for the Diagnosis of Lysosomal Storage Disorders.
Zanetti A et al.
The Journal of Molecular Diagnostics : Jmd, 2020
Underestimated Aspect of Mucopolysaccharidosis Pathogenesis: Global Changes in Cellular Processes Revealed by Transcriptomic Studies.
Gaffke L et al.
International Journal of Molecular Sciences, 2020
Genetic Base of Behavioral Disorders in Mucopolysaccharidoses: Transcriptomic Studies.
Pierzynowska K et al.
International Journal of Molecular Sciences, 2020
The skeletal phenotype of intermediate GM1 gangliosidosis: Clinical, radiographic and densitometric features, and implications for clinical monitoring and intervention.
Ferreira CR et al.
Bone, 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
Molecular diagnosis of patients affected by mucopolysaccharidosis: a multicenter study.
Zanetti A et al.
European Journal of Pediatrics, 2019
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
Comprehensive behavioral and biochemical outcomes of novel murine models of GM1-gangliosidosis and Morquio syndrome type B.
Przybilla MJ et al.
Molecular Genetics and Metabolism, 2019
The treatment of juvenile/adult GM1-gangliosidosis with Miglustat may reverse disease progression.
Deodato F et al.
Metabolic Brain Disease, 2017
Epidemiology of mucopolysaccharidoses.
Khan SA et al.
Molecular Genetics and Metabolism, 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
[Genetic aspects of mucopolysaccharidoses].
Lacombe D et al.
Archives De Pediatrie : Organe Officiel De La Societe Francaise De Pediatrie, 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
β-Galactosidosis in Patient with Intermediate GM1 and MBD Phenotype.
Moore T et al.
Jimd Reports, 2013
[Structural basis for β-galactosidase associated with lysosomal disease].
Shimizu T
Yakugaku Zasshi : Journal of the Pharmaceutical Society of Japan, 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
Fluorous iminoalditols act as effective pharmacological chaperones against gene products from GLB₁ alleles causing GM1-gangliosidosis and Morquio B disease.
Fantur KM et al.
Journal of Inherited Metabolic Disease, 2012
GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings.
Caciotti A et al.
Biochimica Et Biophysica Acta, 2011
Chemical chaperone therapy: chaperone effect on mutant enzyme and cellular pathophysiology in β-galactosidase deficiency.
Higaki K et al.
Human Mutation, 2011
Phenotype determining alleles in GM1 gangliosidosis patients bearing novel GLB1 mutations.
Hofer D et al.
Clinical Genetics, 2010