Glycogenosis (type II), also known as glycogen storage disease II (OMIM 232300), is an autosomal recessive disease, caused by mutations in the gene (GAA) encoding acid alpha-1, 4-glucosidase (acid maltase), which maps to chromosome 17q25.2–q25.3.68 In the classic infantile form (Pom...
sp2 -Iminosugar alpha-glucosidase inhibitor 1-C-octyl-2-oxa-3-oxocastanospermine specifically affected breast cancer cell migration through Stim1, beta1-integrin, and FAK signaling pathways J Cell Physiol, 232 (12) (2017), pp. 3631-3640 CrossrefView in ScopusGoogle Scholar [35] P. Zhu, X...
Lysosomal storage disorders, of which more than 40 are known, are caused by the defective activity of lysosomal proteins, which results in the intra-lysosomal accumulation of undegraded metabolites. Despite years of study of the genetic and molecular bas
When substrate reduction therapeutics N-butyl-deoxynojirimycin (NB-DNJ) or N-butyldeoxygalactonojirimycin (NB-DGJ) were applied to the storage phenotype cells, an increase in glucosylated and galactosylated oligosaccharide species was observed due to endoplasmic reticulum alpha-glucosidases and lysosomal ...
Pompe disease, a rare lysosomal storage disease caused by deficiency of the lysosomal acid α-glucosidase (GAA), is characterized by glycogen accumulation, triggering severe secondary cellular damage and resulting in progressive motor handicap and premat
β-glucosidase activity in skin fibroblasts, should be referred for a molecular genetic study of the prosaposin gene (PSAP), which codes for the cofactor Sap C required for the function of β-glucosidase [55]. Findings of normal arylsulphatase A activity and abnormal patterns of urinary ...
Lysosomal storage disorders (LSDs) are rare inherited metabolic disorders characterized by defects in the function of specific enzymes responsible for brea
Pompe disease is an autosomal recessive lysosomal storage disorder caused by a deficiency of the lysosomal enzyme acid alpha-glucosidase, responsible for t... CM Lynch,J Johnson,C Vaccaro,... - 《Journal of Histochemistry & Cytochemistry》 被引量: 99发表: 2005年 Isolation and Characterization of...
In the context of Pompe disease, recombinant alglucosidase alfa in combination with the pharmacological chaperone miglustat, stabilises the enzyme, improves its pharmacokinetic properties and leads to better function compared to enzyme alone64,65. This strategy could be applied to GCase-BS using a ...
et al. Recombinant human alpha-glucosidase from rabbit milk in Pompe patients. Lancet 356, 397–398 (2000). Article Google Scholar Harmatz, P. et al. Enzyme replacement therapy for mucopolysaccharidosis VI: a phase 3, randomized, double-blind, placebo-controlled, multinational study of ...