90 Article(s)Download |
PMID | Title | 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 |