G(M1) Ganglioside

galactosidase beta 1 ; Homo sapiens







90 Article(s)
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Pub. Year
#Total Relationships
1 33859490 GM1 Gangliosidosis: Mechanisms and Management. 2021 1
2 34816592 Pharmacological Chaperones for β-Galactosidase Related to GM1 -Gangliosidosis and Morquio B: Recent Advances. 2021 Nov 2
3 32779865 Substrate reduction therapy with Miglustat in pediatric patients with GM1 type 2 gangliosidosis delays neurological involvement: A multicenter experience. 2020 Oct 2
4 30675867 [Identification and pathogenicity prediction of a novel GLB1 variant c.101T>C (p.Ile34Thr) in an infant with GM1 gangliosidosis]. 2019 Jan 3
5 30703229 [Novel mutations of GLB1 gene identified in a Chinese pedigree affected with GM1 gangliosidosis]. 2019 Feb 10 1
6 31534909 Human GLB1 knockout cerebral organoids: A model system for testing AAV9-mediated GLB1 gene therapy for reducing GM1 ganglioside storage in GM1 gangliosidosis. 2019 Dec 5
7 29396849 SAAMP 2.0: An algorithm to predict genotype-phenotype correlation of lysosomal storage diseases. 2018 May 1
8 29439846 Diagnostic challenge for the rare lysosomal storage disease: Late infantile GM1 gangliosidosis. 2018 May 2
9 30187681 Protein modeling and clinical description of a novel in-frame GLB1 deletion causing GM1 gangliosidosis type II. 2018 Nov 3
10 30267299 Clinical and molecular characteristics of 11 Chinese probands with GM1 gangliosidosis. 2018 Dec 3
11 30555092 Identification of a novel GLB1 mutation in a consanguineous Pakistani family affected by rare infantile GM1 gangliosidosis. 2018 Dec 7
12 30581635 Genetic Analysis of Undiagnosed Juvenile GM1-Gangliosidosis by Microarray and Exome Sequencing. 2018 1
13 28716012 Case reports of juvenile GM1 gangliosidosisis type II caused by mutation in GLB1 gene. 2017 Jul 17 1
14 29111890 Polyethylene glycol-b-poly(lactic acid) polymersomes as vehicles for enzyme replacement therapy. 2017 Dec 1
15 26766614 Enzyme replacement for GM1-gangliosidosis: Uptake, lysosomal activation, and cellular disease correction using a novel β-galactosidase:RTB lectin fusion. 2016 Feb 1
16 25600812 Biochemical and molecular characterization of novel mutations in GLB1 and NEU1 in patient cells with lysosomal storage disorders. 2015 Feb 20 3
17 25691190 White matter changes in GM1 gangliosidosis. 2015 Feb 1
18 24737316 Structural basis of pharmacological chaperoning for human β-galactosidase. 2014 May 23 4
19 23046582 Genotypic and phenotypic characterization of Brazilian patients with GM1 gangliosidosis. 2013 Jan 1 1
20 23831247 GM1 gangliosidosis, late infantile onset dystonia, and T2 Hypointensity in the globus pallidus and substantia Nigra. 2013 Sep 1
21 21978926 Glycohydrolases β-hexosaminidase and β-galactosidase are associated with lipid microdomains of Jurkat T-lymphocytes. 2012 Mar 1
22 22033734 Fluorous iminoalditols act as effective pharmacological chaperones against gene products from GLB₁ alleles causing GM1-gangliosidosis and Morquio B disease. 2012 May 2
23 22234367 Four novel mutations in the β-galactosidase gene identified in infantile type of GM1 gangliosidosis. 2012 May 1
24 21497194 GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings. 2011 Jul 1
25 22001501 Murine β-galactosidase stability is not dependent on temperature or protective protein/cathepsin A. 2011 Dec 1
26 20175788 Phenotype determining alleles in GM1 gangliosidosis patients bearing novel GLB1 mutations. 2010 Sep 3
27 20920281 Three novel beta-galactosidase gene mutations in Han Chinese patients with GM1 gangliosidosis are correlated with disease severity. 2010 Sep 30 4
28 19472408 GM1 gangliosidosis and Morquio B disease: expression analysis of missense mutations affecting the catalytic site of acid beta-galactosidase. 2009 Aug 1
29 18392450 Transient high-level expression of beta-galactosidase after transfection of fibroblasts from GM1 gangliosidosis patients with plasmid DNA. 2008 Apr 3
30 17221873 GM1 gangliosidosis: molecular analysis of nine patients and development of an RT-PCR assay for GLB1 gene expression profiling. 2007 Feb 2
31 17661814 Identification of a novel pseudodeficiency allele in the GLB1 gene in a carrier of GM1 gangliosidosis. 2007 Aug 1
32 17052929 Neuroimaging findings in infantile GM1 gangliosidosis. 2006 Sep-Nov 1
33 10751590 Characterization of beta-galactosidase in leukocytes and fibroblasts of GM1 gangliosidosis heterozygotes compared to normal subjects. 2000 Mar 2
34 10757351 Correction of acid beta-galactosidase deficiency in GM1 gangliosidosis human fibroblasts by retrovirus vector-mediated gene transfer: higher efficiency of release and cross-correction by the murine enzyme. 2000 Mar 20 2
35 10942779 Degradation of membrane-bound ganglioside GM1. Stimulation by bis(monoacylglycero)phosphate and the activator proteins SAP-B and GM2-AP. 2000 Nov 17 3
36 10571006 Molecular basis of GM1 gangliosidosis and Morquio disease, type B. Structure-function studies of lysosomal beta-galactosidase and the non-lysosomal beta-galactosidase-like protein. 1999 Oct 8 1
37 9585685 Myelination arrest demonstrated using magnetic resonance imaging in a child with type I GM1 gangliosidosis. 1998 Apr 1
38 9149388 Synthesis and mass spectrometric characterization of digoxigenin and biotin labeled ganglioside GM1 and their uptake by and metabolism in cultured cells. 1997 Mar 28 2
39 9203065 beta-Galactosidase gene mutations in patients with slowly progressive GM1 gangliosidosis. 1997 Jun 1
40 8068159 Normal serum beta-galactosidase in juvenile GM1 gangliosidosis. 1994 Jun 1
41 8200356 Hydrolysis of lactosylceramide by human galactosylceramidase and GM1-beta-galactosidase in a detergent-free system and its stimulation by sphingolipid activator proteins, sap-B and sap-C. Activator proteins stimulate lactosylceramide hydrolysis. 1994 May 15 2
42 24156116 GLB1-Related Disorders 1993 2
43 1497620 Human placental beta-galactosidase. Characterization of the dimer and complex forms of the enzyme. 1992 Aug 1 2
44 1806363 Stimulation of GM3 ganglioside sialidase activity by an activator protein in patients with mucolipidosis IV and controls. 1991 1
45 2512653 Interspecific genetic complementation analysis of human and sheep fibroblasts with beta-galactosidase deficiency. 1989 Nov 1
46 3128327 beta-Galactosidase-induced destabilization of liposome composed of phosphatidylethanolamine and ganglioside GM1. 1988 Apr 7 2
47 3133384 Microassay for GM1 ganglioside beta-galactosidase activity using high-performance liquid chromatography. 1988 Apr 8 3
48 3146253 [Study of the specificity of human lysosomal glycolipid hydrolases using synthetic fluorogenic substrates]. 1988 Aug 2
49 3360793 Characterization of a nonspecific activator protein for the enzymatic hydrolysis of glycolipids. 1988 May 15 2
50 3035998 Inactivation of GM1-ganglioside beta-galactosidase by a specific inhibitor: a model for ganglioside storage disease. 1987 May 3