Associated Papers
Decreased Levels of Chaperones in Mucopolysaccharidoses and Their Elevation as a Putative Auxiliary Therapeutic Approach.
Żabińska M et al.
Pharmaceutics, 2023
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
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
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
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
Human β-glucuronidase: structure, function, and application in enzyme replacement therapy.
Naz H et al.
Rejuvenation Research, 2013
Mutations and polymorphisms in GUSB gene in mucopolysaccharidosis VII (Sly Syndrome).
Tomatsu S et al.
Human Mutation, 2009
Structural features of normal and mutant human lysosomal glycoside hydrolases deduced from bioinformatics analysis.
Durand P et al.
Human Molecular Genetics, 2000
Low beta-glucuronidase enzyme activity and mutations in the human beta-glucuronidase gene in mild mucopolysaccharidosis type VII, pseudodeficiency and a heterozygote.
Vervoort R et al.
Human Genetics, 1998
Molecular analysis of patients with beta-glucuronidase deficiency presenting as hydrops fetalis or as early mucopolysaccharidosis VII.
Vervoort R et al.
American Journal of Human Genetics, 1996
A pseudodeficiency allele (D152N) of the human beta-glucuronidase gene.
Vervoort R et al.
American Journal of Human Genetics, 1995
Four novel mutations in mucopolysaccharidosis type VII including a unique base substitution in exon 10 of the beta-glucuronidase gene that creates a novel 5'-splice site.
Yamada S et al.
Human Molecular Genetics, 1995
Mutational analysis of a patient with mucopolysaccharidosis type VII, and identification of pseudogenes.
Shipley JM et al.
American Journal of Human Genetics, 1993