Molecular consequences of the pathogenic mutation in feline GM1 gangliosidosis
about
DNA testing in neurologic diseasesCharacterization of the biosynthesis, processing and kinetic mechanism of action of the enzyme deficient in mucopolysaccharidosis IIICTherapeutic response in feline sandhoff disease despite immunity to intracranial gene therapy.Sustained normalization of neurological disease after intracranial gene therapy in a feline model.Identification and characterization of ambroxol as an enzyme enhancement agent for Gaucher diseaseEvaluation 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.A sensitive fluorescence-based assay for monitoring GM2 ganglioside hydrolysis in live patient cells and their lysatesRemoval of potentially confounding phenotypes from a Siamese-derived feline glaucoma breeding colony.Bis(monoacylglycero)phosphate: a secondary storage lipid in the gangliosidoses.A review of gene therapy in canine and feline models of lysosomal storage disorders.GM1 gangliosidosis in a Japanese domestic cat: a new variant identified in Hokkaido, Japan.The practical use of genome sequencing data in the management of a feline colony pedigree.Polycystic kidneys and GM2 gangliosidosis-like disease in neonatal springboks (Antidorcas marsupialis).1-Deoxy-D-galactonojirimycins with dansyl capped N-substituents as β-galactosidase inhibitors and potential probes for GM1 gangliosidosis affected cell lines.Diltiazem, a L-type Ca(2+) channel blocker, also acts as a pharmacological chaperone in Gaucher patient cells.Polyethylene glycol-b-poly(lactic acid) polymersomes as vehicles for enzyme replacement therapy.Mutation analysis of GM1 gangliosidosis in a Siamese cat from Japan in the 1960s.Unfolded protein response is not activated in the mucopolysaccharidoses but protein disulfide isomerase 5 is deregulated.MRI/MRS as a surrogate marker for clinical progression in GM1 gangliosidosis.
P2860
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P2860
Molecular consequences of the pathogenic mutation in feline GM1 gangliosidosis
description
2008 nî lūn-bûn
@nan
2008 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի մարտին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
name
Molecular consequences of the pathogenic mutation in feline GM1 gangliosidosis
@ast
Molecular consequences of the pathogenic mutation in feline GM1 gangliosidosis
@en
Molecular consequences of the pathogenic mutation in feline GM1 gangliosidosis
@nl
type
label
Molecular consequences of the pathogenic mutation in feline GM1 gangliosidosis
@ast
Molecular consequences of the pathogenic mutation in feline GM1 gangliosidosis
@en
Molecular consequences of the pathogenic mutation in feline GM1 gangliosidosis
@nl
prefLabel
Molecular consequences of the pathogenic mutation in feline GM1 gangliosidosis
@ast
Molecular consequences of the pathogenic mutation in feline GM1 gangliosidosis
@en
Molecular consequences of the pathogenic mutation in feline GM1 gangliosidosis
@nl
P2093
P2860
P1476
Molecular consequences of the pathogenic mutation in feline GM1 gangliosidosis
@en
P2093
Barbara K Krum
Brigitte A Rigat
Bruce F Smith
Don J Mahuran
Douglas R Martin
G S Varadarajan
Henry J Baker
John W Callahan
Misako Hwang
Polly Foureman
P2860
P304
P356
10.1016/J.YMGME.2008.02.004
P577
2008-03-18T00:00:00Z