Characterization of beta-galactosidase mutations Asp332-->Asn and Arg148-->Ser, and a polymorphism, Ser532-->Gly, in a case of GM1 gangliosidosis
about
Expression and localization of the mouse homologue of the yeast V-ATPase 21-kDa Subunit c" (Vma16p).Regulation of lysosomal ion homeostasis by channels and transportersEvaluation 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.Fluorous iminoalditols: a new family of glycosidase inhibitors and pharmacological chaperones.Molecular consequences of the pathogenic mutation in feline GM1 gangliosidosisThree novel beta-galactosidase gene mutations in Han Chinese patients with GM1 gangliosidosis are correlated with disease severity.Chemical chaperone therapy for brain pathology in G(M1)-gangliosidosis.Pharmacological chaperone therapy for lysosomal storage diseases.GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings.Pharmaceutical Chaperones and Proteostasis Regulators in the Therapy of Lysosomal Storage Disorders: Current Perspective and Future Promises.Molecular Mechanisms of Disease Pathogenesis Differ in Krabbe Disease Variants.Intracellular transport of human lysosomal alpha-mannosidase and alpha-mannosidosis-related mutants.Population analysis of the GLB1 gene in South Brazil.Insights into post-translational processing of beta-galactosidase in an animal model resembling late infantile human G-gangliosidosis.Comparison of HCMV IE and EF-1 promoters for the stable expression of beta-subunit of hexosaminidase in CHO cell lines.
P2860
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P2860
Characterization of beta-galactosidase mutations Asp332-->Asn and Arg148-->Ser, and a polymorphism, Ser532-->Gly, in a case of GM1 gangliosidosis
description
2000 nî lūn-bûn
@nan
2000年の論文
@ja
2000年論文
@yue
2000年論文
@zh-hant
2000年論文
@zh-hk
2000年論文
@zh-mo
2000年論文
@zh-tw
2000年论文
@wuu
2000年论文
@zh
2000年论文
@zh-cn
name
Characterization of beta-galac ...... n a case of GM1 gangliosidosis
@en
Characterization of beta-galac ...... n a case of GM1 gangliosidosis
@nl
type
label
Characterization of beta-galac ...... n a case of GM1 gangliosidosis
@en
Characterization of beta-galac ...... n a case of GM1 gangliosidosis
@nl
prefLabel
Characterization of beta-galac ...... n a case of GM1 gangliosidosis
@en
Characterization of beta-galac ...... n a case of GM1 gangliosidosis
@nl
P2093
P2860
P1433
P1476
Characterization of beta-galac ...... n a case of GM1 gangliosidosis
@en
P2093
Callahan JW
P2860
P304
P356
10.1042/0264-6021:3480621
P407
P478
P577
2000-06-01T00:00:00Z