| 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 |
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| 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 |