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 ...
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 beta-galactosidase inhibition, ...
Feriozzi S, Hughes DA. New drugs for the treatment of Anderson-Fabry disease. J Nephrol. 2021;34(1):221–30.. . Kido J, Sugawara K, Nakamura K. Gene therapy for lysosomal storage diseases: current clinical trial prospects. Front Genet. 2023;14:1064924.https://doi.org/10.3389/fgene.2...
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...
Dardis A, Filocamo M, Grossi S, Ciana G, Franceschetti S, Dominissini S et al (2009) Biochemical and molecular findings in a patient with myoclonic epilepsy due to a mistarget of the beta-glucosidase enzyme. Mol Genet Metab 97:309–311. https://doi.org/10.1016/j.ymgme.2009.04.011 ...
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...
J Hum Genet 50:460–467 Rosenfeld EL, Belenky DM, Bystrov NK (1986) Interaction of hepatic asialoglycoprotein receptor with asialoorosomucoid and galactolyzed lysosomal a-glucosidase. Biochim Biophys Acta 883:306–312 Sakuraba H, Yanagawa Y, Igarashi T, Suzuki Y, Suzuki T, Wa- tanabe K,...
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...
Mutations in theGBA1gene that encodes glucosylceramide-β-glucosidase (GCase) lead to the accumulation of GlcCer. GCase normally works in coordination with SapC and lysosomal BMP to hydrolyze GlcCer into glucose and Cer. Therefore, in rare circumstances, GD can also be caused by a deficiency ...
GD is caused by an inherited deficiency in the lysosomal β-glucosidase glucocerebrosidase (GBA), causing an accumulation of its substrate glucosylceramide (GlcCer) [4]. GlcCer is the simplest glycosphingolipid, consisting of a glucose linked to the lipid moiety ceramide [5]. Lysosomal GlcCer ...