PMID-sentid Pub_year Sent_text comp_official_name comp_offsetprotein_name organism prot_offset 17052929-1 2006 GM1 gangliosidosis is an autosomal recessive glycosphingolipid storage disease caused by defects in the enzyme beta-galactosidase. G(M1) Ganglioside 0-3 galactosidase beta 1 Homo sapiens 111-129 17661814-7 2007 He was a heterozygous compound with p.Arg595Trp in trans with one of the disease-causing mutations identified in his daughter; in leukocytes and plasma he showed lower beta-galactosidase activity than that observed in GM1 gangliosidosis carriers. G(M1) Ganglioside 218-221 galactosidase beta 1 Homo sapiens 168-186 17221873-0 2007 GM1 gangliosidosis: molecular analysis of nine patients and development of an RT-PCR assay for GLB1 gene expression profiling. G(M1) Ganglioside 0-3 galactosidase beta 1 Homo sapiens 95-99 17221873-5 2007 We also report the characterisation of GLB1 gene mutations in nine GM1 gangliosidosis patients in order to correlate the genetic lesions with mRNA levels and phenotypes. G(M1) Ganglioside 67-70 galactosidase beta 1 Homo sapiens 39-43 9585685-1 1998 An 18-month-old girl was diagnosed as having GM1 gangliosidosis, on the basis of the clinical symptoms of muscle stiffness, developmental retardation, hepatosplenomegaly, and kyphoscoliosis and a laboratory study that revealed a deficiency in the lysosomal degradative enzyme beta-galactosidase. G(M1) Ganglioside 45-48 galactosidase beta 1 Homo sapiens 276-294 10757351-1 2000 Mutations in the lysosomal acid beta-galactosidase (EC 3.2.1.23) underlie two different disorders: GM1 gangliosidosis, which involves the nervous system and visceral organs to varying extents, and Morquio"s syndrome type B (Morquio B disease), which is a skeletal-connective tissue disease without any CNS symptoms. G(M1) Ganglioside 99-102 galactosidase beta 1 Homo sapiens 32-50 10757351-2 2000 This article shows that transduction of human GM1 gangliosidosis fibroblasts with retrovirus vectors encoding the human acid beta-galactosidase cDNA leads to complete correction of the enzymatic deficiency. G(M1) Ganglioside 46-49 galactosidase beta 1 Homo sapiens 125-143 10751590-0 2000 Characterization of beta-galactosidase in leukocytes and fibroblasts of GM1 gangliosidosis heterozygotes compared to normal subjects. G(M1) Ganglioside 72-75 galactosidase beta 1 Homo sapiens 20-38 10751590-1 2000 OBJECTIVES: Characterization of beta-galactosidase in leukocytes and fibroblasts of heterozygotes for GM1 type I. G(M1) Ganglioside 102-105 galactosidase beta 1 Homo sapiens 32-50 10942779-9 2000 The enzymatic hydrolysis of the ganglioside GM1 is catalyzed by beta-galactosidase, a water-soluble acid exohydrolase. G(M1) Ganglioside 44-47 galactosidase beta 1 Homo sapiens 64-82 10942779-11 2000 In this study we demonstrate that an activator protein is required for the enzymatic degradation of membrane-bound ganglioside GM1 and that both SAP-B and the GM2 activator protein significantly enhance the degradation of the ganglioside GM1 by acid beta-galactosidase in a liposomal, detergent-free assay system. G(M1) Ganglioside 127-130 galactosidase beta 1 Homo sapiens 250-268 10942779-11 2000 In this study we demonstrate that an activator protein is required for the enzymatic degradation of membrane-bound ganglioside GM1 and that both SAP-B and the GM2 activator protein significantly enhance the degradation of the ganglioside GM1 by acid beta-galactosidase in a liposomal, detergent-free assay system. G(M1) Ganglioside 238-241 galactosidase beta 1 Homo sapiens 250-268 10571006-0 1999 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. G(M1) Ganglioside 19-22 galactosidase beta 1 Homo sapiens 107-125 9203065-1 1997 Three unrelated North American cases with slowly progressive forms of GM1 gangliosidosis were found to have two unique point mutations and a 9 bp insertion in the coding region of the gene encoding beta-galactosidase. G(M1) Ganglioside 70-73 galactosidase beta 1 Homo sapiens 198-216 9149388-3 1997 These GM1 derivatives could be hydrolyzed to the corresponding GM3 derivatives by treatment with GM1-beta-galactosidase and beta-hexosaminidases. G(M1) Ganglioside 6-9 galactosidase beta 1 Homo sapiens 101-119 9149388-3 1997 These GM1 derivatives could be hydrolyzed to the corresponding GM3 derivatives by treatment with GM1-beta-galactosidase and beta-hexosaminidases. G(M1) Ganglioside 97-100 galactosidase beta 1 Homo sapiens 101-119 3146253-4 1988 6-HMGal analogues with shorter acyl residues, octanoyl (OMGal) and butanoyl (BMGal), were cleaved by another type of beta-galactosidase, GM1-ganglioside-beta-galactosidase. G(M1) Ganglioside 137-152 galactosidase beta 1 Homo sapiens 117-135 8068159-0 1994 Normal serum beta-galactosidase in juvenile GM1 gangliosidosis. G(M1) Ganglioside 44-47 galactosidase beta 1 Homo sapiens 13-31 1497620-2 1992 GM1 ganglioside beta-galactosidase (beta-Gal) is deficient in the autosomal recessive disorder GM1 gangliosidosis. G(M1) Ganglioside 0-3 galactosidase beta 1 Homo sapiens 16-34 1497620-2 1992 GM1 ganglioside beta-galactosidase (beta-Gal) is deficient in the autosomal recessive disorder GM1 gangliosidosis. G(M1) Ganglioside 0-3 galactosidase beta 1 Homo sapiens 36-44 8200356-7 1994 Hydrolysis of liposomal lactosylceramide was compared with sap-B-stimulated hydrolysis of liposomal ganglioside GM1 by GM1-beta-galactosidase and sap-C-stimulated degradation of liposomal galactosylceramide by galactosylceramidase. G(M1) Ganglioside 119-122 galactosidase beta 1 Homo sapiens 123-141 8200356-12 1994 GM1-beta-galactosidase was more active on these complexes than on glycolipids (GM1 and lactosylceramides) still residing in liposomal membranes. G(M1) Ganglioside 0-3 galactosidase beta 1 Homo sapiens 4-22 1806363-2 1991 This fraction was distinct from those stimulating the hydrolysis of galactose from GM1 ganglioside by beta-galactosidase and the hydrolysis of N-acetylgalactosamine from GM2 ganglioside by hexosaminidase A. G(M1) Ganglioside 83-98 galactosidase beta 1 Homo sapiens 102-120 34816592-0 2021 Pharmacological Chaperones for beta-Galactosidase Related to GM1 -Gangliosidosis and Morquio B: Recent Advances. G(M1) Ganglioside 61-64 galactosidase beta 1 Homo sapiens 31-49 34816592-1 2021 A short survey on selected beta-galactosidase inhibitors as potential pharmacological chaperones for GM1 -gangliosidosis and Morquio B associated mutants of human lysosomal beta-galactosidase is provided highlighting recent developments in this particular area of lysosomal storage disorders and orphan diseases. G(M1) Ganglioside 101-104 galactosidase beta 1 Homo sapiens 27-45 2512653-4 1989 We conclude that the ovine disease is due to a mutation at the genetic locus homologous with that of GM1 gangliosidosis and mucopolysaccharidosis type IVB, suggesting that the primary defect in the ovine disease is a mutation of the beta-galactosidase structural gene. G(M1) Ganglioside 101-104 galactosidase beta 1 Homo sapiens 233-251 3146253-4 1988 6-HMGal analogues with shorter acyl residues, octanoyl (OMGal) and butanoyl (BMGal), were cleaved by another type of beta-galactosidase, GM1-ganglioside-beta-galactosidase. G(M1) Ganglioside 137-152 galactosidase beta 1 Homo sapiens 153-171 3133384-0 1988 Microassay for GM1 ganglioside beta-galactosidase activity using high-performance liquid chromatography. G(M1) Ganglioside 15-18 galactosidase beta 1 Homo sapiens 31-49 3360793-5 1988 The oligosaccharide of GM1 and deacetyl-fatty acid free GM1 (II3-NeuGg-Ose4-sphingosine) were hydrolyzed by beta-galactosidase in the absence of this activator protein. G(M1) Ganglioside 23-26 galactosidase beta 1 Homo sapiens 108-126 3360793-5 1988 The oligosaccharide of GM1 and deacetyl-fatty acid free GM1 (II3-NeuGg-Ose4-sphingosine) were hydrolyzed by beta-galactosidase in the absence of this activator protein. G(M1) Ganglioside 56-59 galactosidase beta 1 Homo sapiens 108-126 3128327-0 1988 beta-Galactosidase-induced destabilization of liposome composed of phosphatidylethanolamine and ganglioside GM1. G(M1) Ganglioside 108-111 galactosidase beta 1 Homo sapiens 0-18 3128327-4 1988 Treatment of these GM1/PE liposomes with beta-galactosidase induces a rapid leakage (3-6 min) of the entrapped fluorescent dye, calcein. G(M1) Ganglioside 19-22 galactosidase beta 1 Homo sapiens 41-59 3133384-1 1988 A simple and sensitive assay for GM1 ganglioside (GM1) beta-galactosidase activity was devised by direct measurement of released D-galactose using high-performance liquid chromatography (HPLC). G(M1) Ganglioside 33-48 galactosidase beta 1 Homo sapiens 55-73 3133384-1 1988 A simple and sensitive assay for GM1 ganglioside (GM1) beta-galactosidase activity was devised by direct measurement of released D-galactose using high-performance liquid chromatography (HPLC). G(M1) Ganglioside 33-36 galactosidase beta 1 Homo sapiens 55-73 3111543-4 1987 Lactosylsphingosine beta-galactosidase activities assayed in the absence and the presence of taurocholate (probably lactosylceramidase I) were deficient in fibroblasts from patients with globoid cell leukodystrophy, while the activity assayed with sodium cholate (probably lactosylceramidase II) was deficient in GM1 gangliosidosis fibroblasts. G(M1) Ganglioside 313-316 galactosidase beta 1 Homo sapiens 20-38 3035998-0 1987 Inactivation of GM1-ganglioside beta-galactosidase by a specific inhibitor: a model for ganglioside storage disease. G(M1) Ganglioside 16-31 galactosidase beta 1 Homo sapiens 32-50 3035998-2 1987 Utilizing a specific inactivator of the lysosomal enzyme GM1-ganglioside beta-galactosidase (beta-D-galactopyranosylmethyl-p-nitrophenyltriazene [beta-GalMNT]) and neuroblastoma X glioma hybrid cells (NG108-15), we suppressed beta-galactosidase activity for up to 72 hours. G(M1) Ganglioside 57-72 galactosidase beta 1 Homo sapiens 73-91 3035998-2 1987 Utilizing a specific inactivator of the lysosomal enzyme GM1-ganglioside beta-galactosidase (beta-D-galactopyranosylmethyl-p-nitrophenyltriazene [beta-GalMNT]) and neuroblastoma X glioma hybrid cells (NG108-15), we suppressed beta-galactosidase activity for up to 72 hours. G(M1) Ganglioside 57-72 galactosidase beta 1 Homo sapiens 226-244 3086209-5 1986 Fibroblasts from different types of galactosialidosis, a recessive disease associated with a coexistent beta-galactosidase/neuraminidase deficiency all showed degradation of ingested GM1. G(M1) Ganglioside 183-186 galactosidase beta 1 Homo sapiens 104-122 3092133-4 1986 Therefore, the adult disorder must be due to a mutation of the structural gene for beta-galactosidase, which is allelic to the mutations in type 1 GM1 gangliosidosis and Morquio B syndrome. G(M1) Ganglioside 147-150 galactosidase beta 1 Homo sapiens 83-101 6435528-10 1984 When SAP-1 from GM1 gangliosidosis liver was treated sequentially with neuraminidase, beta-galactosidase, and endoglycosidase D, almost all of it was converted to the forms found in control human liver. G(M1) Ganglioside 16-19 galactosidase beta 1 Homo sapiens 86-104 3934152-6 1985 The purified beta-galactosidase had galactosylceramidase II activity, which was competitively inhibited by GM1 ganglioside. G(M1) Ganglioside 107-122 galactosidase beta 1 Homo sapiens 13-31 3934152-7 1985 Thus, galactosylceramidase II seems to be identical to GM1 ganglioside beta-galactosidase and lactosylceramidase II. G(M1) Ganglioside 55-70 galactosidase beta 1 Homo sapiens 71-89 2415273-2 1985 With a previously reported, simple and sensitive fluorometric assay for GM1 ganglioside beta-galactosidase using high performance liquid chromatography (HPLC), optimal reaction conditions were determined for the assay of acid beta-galactosidase activity toward asialofetuin in skin fibroblast homogenates. G(M1) Ganglioside 72-87 galactosidase beta 1 Homo sapiens 88-106 2415273-2 1985 With a previously reported, simple and sensitive fluorometric assay for GM1 ganglioside beta-galactosidase using high performance liquid chromatography (HPLC), optimal reaction conditions were determined for the assay of acid beta-galactosidase activity toward asialofetuin in skin fibroblast homogenates. G(M1) Ganglioside 72-87 galactosidase beta 1 Homo sapiens 226-244 3088498-7 1986 Treatment with exo-beta-galactosidase transformed the trisaccharide OS II into the disaccharide OS I, indicating that the deficiency of beta-galactosidase in GM1 gangliosidosis type I, but not in type II, also affects glycoprotein catabolism, leading to the accumulation of glycopeptides containing terminal beta-galactosyl residues and N-acetyllactosamine repeating units. G(M1) Ganglioside 158-161 galactosidase beta 1 Homo sapiens 19-37 6773584-7 1980 Since 80-90% of lactosylceramide-cleaving activity in normal fibroblasts is due to GM1-ganglioside beta-galactosidase and since fibroblasts of globoid cell leukodystrophy patients are genetically deficient in galactosylceramidase but normal in GM1-ganglioside beta-galactosidase, these rsults are also consistent with specific activation of galactosylceramidase by phosphatidylserine. G(M1) Ganglioside 83-98 galactosidase beta 1 Homo sapiens 99-117 6432371-0 1984 Application of a GM1 ganglioside beta-galactosidase microassay method to diagnosis of GM1 gangliosidosis. G(M1) Ganglioside 17-20 galactosidase beta 1 Homo sapiens 33-51 6432371-1 1984 The enzymatic diagnosis of GM1 gangliosidosis, including the diagnosis of heterozygosity, requires a microassay of GM1 ganglioside beta-galactosidase activity in lymphocytes and cultured skin fibroblasts. G(M1) Ganglioside 115-130 galactosidase beta 1 Homo sapiens 131-149 6432371-3 1984 Reaction conditions were examined to determine those optimal for the assay of GM1 ganglioside beta-galactosidase activity in lymphocyte and skin fibroblast homogenates. G(M1) Ganglioside 78-93 galactosidase beta 1 Homo sapiens 94-112 6811570-1 1982 1) Two forms of acid beta-galactosidase [EC 3.1.23] with different molecular weights catalyzing the hydrolysis of GM1-ganglioside and p-nitrophenyl-beta-D-galactoside were separated and purified from porcine spleen. G(M1) Ganglioside 114-129 galactosidase beta 1 Homo sapiens 21-39 6807121-4 1982 However, the amount of the brain GM1-ganglioside was accumulated to a less degree in comparison with that of typical type 2 GM1-gangliosidosis, though the activity of GM1-beta-galactosidase in the brain was deficient to the same degree as in the typical case. G(M1) Ganglioside 33-48 galactosidase beta 1 Homo sapiens 171-189 6784662-2 1981 Certain genetic and biochemical studies have suggested that the phenotypic variation found in GM1 gangliosidosis results from different allelic mutations affecting the GM1 ganglioside beta-galactosidase locus and that different combinations of these mutations accounts for the clinical heterogeneity of this illness. G(M1) Ganglioside 94-97 galactosidase beta 1 Homo sapiens 184-202 6784662-2 1981 Certain genetic and biochemical studies have suggested that the phenotypic variation found in GM1 gangliosidosis results from different allelic mutations affecting the GM1 ganglioside beta-galactosidase locus and that different combinations of these mutations accounts for the clinical heterogeneity of this illness. G(M1) Ganglioside 168-171 galactosidase beta 1 Homo sapiens 184-202 6784662-3 1981 A family in which both the infantile and juvenile forms of GM1 gangliosidosis occurred, the children sharing a common mutation of their acid beta-galactosidase activity, supports the allelic nature of these different clinical forms of the disease. G(M1) Ganglioside 59-62 galactosidase beta 1 Homo sapiens 141-159 6784663-2 1981 The residual acid beta-galactosidase in the juvenile form of GM1 gangliosidosis has three bands of enzyme activity with an apparent isoelectric pH (pI) range from 4.9 to 5.2, whereas that in the infantile form has a single band with an apparent pI of 5.2. G(M1) Ganglioside 61-64 galactosidase beta 1 Homo sapiens 18-36 6784663-3 1981 Separation of residual acid beta-galactosidase into multiple molecular forms by analytical isoelectric focusing demonstrates enzymatic differences that can be correlated with the allelic mutations that affect the GM1 ganglioside beta-galactosidase locus. G(M1) Ganglioside 213-228 galactosidase beta 1 Homo sapiens 28-46 6784663-3 1981 Separation of residual acid beta-galactosidase into multiple molecular forms by analytical isoelectric focusing demonstrates enzymatic differences that can be correlated with the allelic mutations that affect the GM1 ganglioside beta-galactosidase locus. G(M1) Ganglioside 213-228 galactosidase beta 1 Homo sapiens 229-247 6435475-0 1984 A fluorometric microassay procedure for monitoring the enzymatic activity of GM1-ganglioside beta-galactosidase by use of high-performance liquid chromatography. G(M1) Ganglioside 77-80 galactosidase beta 1 Homo sapiens 93-111 6435475-1 1984 For the measurement of the enzymatic activity of GM1-ganglioside (II3 NeuAcGgOse4Cer, galactosyl-N-acetylgalactosaminyl-(N-acetylneuraminosyl) galactosyl-glucosylceramide) beta-galactosidase in crude enzyme samples, a microassay using nonradioisotopic GM1-ganglioside was devised. G(M1) Ganglioside 49-64 galactosidase beta 1 Homo sapiens 172-190 6232275-8 1984 Me-GM1 and HO-GM1 could be hydrolyzed by human hepatic beta-galactosidase in the presence of GM1-activator at rates comparable to that of the native GM1. G(M1) Ganglioside 3-6 galactosidase beta 1 Homo sapiens 55-73 6232275-8 1984 Me-GM1 and HO-GM1 could be hydrolyzed by human hepatic beta-galactosidase in the presence of GM1-activator at rates comparable to that of the native GM1. G(M1) Ganglioside 14-17 galactosidase beta 1 Homo sapiens 55-73 6134282-5 1983 When 150 micrograms of purified activator protein for GM1 ganglioside beta-galactosidase and sulfatide sulfatase was added in 4 ml of medium with the 14C-labeled sulfatide, correction of the sulfatide metabolism to the normal range was found. G(M1) Ganglioside 54-57 galactosidase beta 1 Homo sapiens 70-88 6416742-0 1983 A beta-galactosidase isoenzyme from Turbo cornutus with substrate specificity toward GM1-ganglioside and glycoproteins. G(M1) Ganglioside 85-100 galactosidase beta 1 Homo sapiens 2-20 6416742-7 1983 The optimal conditions for the hydrolysis of the terminal galactose from GM1-ganglioside which does not occur in gastropods, such as T. cornutus, was found to require 40 mM NaCl and 1 mM sodium taurodeoxycholate at pH 3.0 in 50 mM sodium citrate buffer, conditions similar to those by mammalian beta-galactosidase. G(M1) Ganglioside 73-88 galactosidase beta 1 Homo sapiens 295-313 6787458-3 1981 GM1 gangliosidosis was diagnosed by absence of beta-galactosidase activity in leukocytes and fibroblasts. G(M1) Ganglioside 0-3 galactosidase beta 1 Homo sapiens 47-65 6774976-0 1980 pH-dependent association-dissociation of GM1-beta-galactosidase purified from porcine spleen. G(M1) Ganglioside 41-44 galactosidase beta 1 Homo sapiens 45-63 6774976-1 1980 A beta-galactosidase [EC 3.1.23] catalyzing the hydrolysis of GM1-ganglioside was purified from porcine spleen to a homogeneous form. G(M1) Ganglioside 62-77 galactosidase beta 1 Homo sapiens 2-20 6446239-5 1980 Deficient beta-gal activity was observed toward p-nitrophenyl-beta-galactoside, 4-methylumbelliferyl-beta-galactoside (4 MU-beta-gal), lactose, GM1 ganglioside, keratan sulfate, and asialofetuin (ASF). G(M1) Ganglioside 144-159 galactosidase beta 1 Homo sapiens 10-18 6767344-2 1980 One of them, galactosylceramidase, is primarily responsible for degradation of galactosylceramide, galactosylsphingosine, and monogalactosyl-diglyceride, while the other, GM1-ganglioside beta-galactosidase, degrades GM1-ganglioside and asialo GM1-ganglioside. G(M1) Ganglioside 171-186 galactosidase beta 1 Homo sapiens 187-205 6778958-3 1980 Activity of PNP-beta-galactosidase in normal brain tissue, like that of cerebroside beta-galactosidase from the same source, was considerably more heat-stable than the activity of either 4-MU-beta-galactosidase or the predominant GM1 beta-D-galactosidase (EC 3.2.1.23). G(M1) Ganglioside 230-233 galactosidase beta 1 Homo sapiens 16-34 6778958-4 1980 Lac-cer and GM1, as well as 4-MU-gal and PNP-gal, were competitive inhibitors of human-brain cerebroside beta-galactosidase. G(M1) Ganglioside 12-15 galactosidase beta 1 Homo sapiens 105-123 117700-4 1979 beta-Galactosidase activity was deficient in cultured fibroblasts using [3H]GM1 ganglioside and [3H]ceramide-lactose as substrates. G(M1) Ganglioside 76-91 galactosidase beta 1 Homo sapiens 0-18 115863-6 1979 In connection with the enzymic hydrolysis of GM1 and GM2, we found that the hydrolysis of GM2 by human hepatic beta-N-acetylhexosaminidase A was severely inhibited by a buffer of high ionic strength, whereas no such inhibition was observed in the hydrolysis of GM1 by beta-galactosidase. G(M1) Ganglioside 45-48 galactosidase beta 1 Homo sapiens 268-286 103801-3 1978 GM1-ganglioside beta-galactosidase activity was reduced to 1% of the control value in both the brain and liver of the affected fetus. G(M1) Ganglioside 0-15 galactosidase beta 1 Homo sapiens 16-34 731265-8 1978 These findings are consistent with the known substrate specificities of the two acidic beta-galactosidases in human tissues; galactosylceramide is hydrolyzed almost exclusively by galactosylceramidase, while lactosylceramide can be hydrolyzed by both galactosylceramidase and GM1-ganglioside beta-galactosidase. G(M1) Ganglioside 276-291 galactosidase beta 1 Homo sapiens 87-105 27879-0 1978 The abnormalities of beta-galactosidase in GM1-gangliosidoses. G(M1) Ganglioside 43-46 galactosidase beta 1 Homo sapiens 21-39 83795-1 1978 The residual liver acid beta-galactosidase (beta-gal) activity from a case of feline GM1 gangliosidosis was partially purified and characterized with respect to its pH optimum, kinetic properties, thermostability, isoelectric point, molecular weight, and antigenicity. G(M1) Ganglioside 85-88 galactosidase beta 1 Homo sapiens 24-42 83795-1 1978 The residual liver acid beta-galactosidase (beta-gal) activity from a case of feline GM1 gangliosidosis was partially purified and characterized with respect to its pH optimum, kinetic properties, thermostability, isoelectric point, molecular weight, and antigenicity. G(M1) Ganglioside 85-88 galactosidase beta 1 Homo sapiens 24-32 83795-4 1978 The results suggest that the mutation in the Birmingham GM1 cat is structural and that the residual enzyme activity is a structurally altered acid beta-gal. G(M1) Ganglioside 56-59 galactosidase beta 1 Homo sapiens 147-155 27879-1 1978 The activity of GM1 beta-galactosidase in the brain and liver of patients with GM1-gangliosidosis was assayed using GM1-ganglioside tritiated in the terminal galactose. G(M1) Ganglioside 16-19 galactosidase beta 1 Homo sapiens 20-38 27879-1 1978 The activity of GM1 beta-galactosidase in the brain and liver of patients with GM1-gangliosidosis was assayed using GM1-ganglioside tritiated in the terminal galactose. G(M1) Ganglioside 116-131 galactosidase beta 1 Homo sapiens 20-38 411612-0 1977 GM1-ganglioside beta-galactosidase in leukocytes and cultured fibroblasts. G(M1) Ganglioside 0-3 galactosidase beta 1 Homo sapiens 16-34 413573-0 1978 Purification and characterization of GM1 ganglioside beta-galactosidase from normal feline liver and brain. G(M1) Ganglioside 37-40 galactosidase beta 1 Homo sapiens 53-71 413573-1 1978 GM1 ganglioside beta-galactosidase (GM1-beta-galactosidase) was purified from normal cat brain and liver by a combination of classical and affinity procedures. G(M1) Ganglioside 0-3 galactosidase beta 1 Homo sapiens 16-34 413573-1 1978 GM1 ganglioside beta-galactosidase (GM1-beta-galactosidase) was purified from normal cat brain and liver by a combination of classical and affinity procedures. G(M1) Ganglioside 0-3 galactosidase beta 1 Homo sapiens 40-58 413573-7 1978 The apparent Km determined for 4-methylumbelliferyl beta-D-galactopyranoside (4-MU-Gal) using partially purified brain GM1-beta-galactosidase was 1.73 X 10(-4) M. Liver GM1-beta-galactosidase gave a Km with 4-MU-Gal of 3.25 X 10(-4) M and for [3H]GM1 ganglioside a Km of 4.51 X 10(-4) M was calculated. G(M1) Ganglioside 119-122 galactosidase beta 1 Homo sapiens 123-141 413573-7 1978 The apparent Km determined for 4-methylumbelliferyl beta-D-galactopyranoside (4-MU-Gal) using partially purified brain GM1-beta-galactosidase was 1.73 X 10(-4) M. Liver GM1-beta-galactosidase gave a Km with 4-MU-Gal of 3.25 X 10(-4) M and for [3H]GM1 ganglioside a Km of 4.51 X 10(-4) M was calculated. G(M1) Ganglioside 119-122 galactosidase beta 1 Homo sapiens 173-191 413573-7 1978 The apparent Km determined for 4-methylumbelliferyl beta-D-galactopyranoside (4-MU-Gal) using partially purified brain GM1-beta-galactosidase was 1.73 X 10(-4) M. Liver GM1-beta-galactosidase gave a Km with 4-MU-Gal of 3.25 X 10(-4) M and for [3H]GM1 ganglioside a Km of 4.51 X 10(-4) M was calculated. G(M1) Ganglioside 169-172 galactosidase beta 1 Homo sapiens 123-141 413573-7 1978 The apparent Km determined for 4-methylumbelliferyl beta-D-galactopyranoside (4-MU-Gal) using partially purified brain GM1-beta-galactosidase was 1.73 X 10(-4) M. Liver GM1-beta-galactosidase gave a Km with 4-MU-Gal of 3.25 X 10(-4) M and for [3H]GM1 ganglioside a Km of 4.51 X 10(-4) M was calculated. G(M1) Ganglioside 247-262 galactosidase beta 1 Homo sapiens 123-141 804170-6 1975 Beta-Galactosidase from the patient had a Km that was higher then normal; 5-fold higher with ganglioside GM1 and 2-fold higher with 4-methylumbelliferyl beta-galactoside. G(M1) Ganglioside 105-108 galactosidase beta 1 Homo sapiens 0-18 13910-6 1977 Relative specific activities of GM1-ganglioside beta-galactosidase toward the same series of the substrates were 0.3, 78, 19, 100, 150 and 240; However, the optimal assay conditions for any given natural substrate were sufficiently different for each beta-galactosidase so that diagnostic assays for the two genetic diseases due to beta-galactosidase deficiencies could be carried out in whole tissues. G(M1) Ganglioside 32-47 galactosidase beta 1 Homo sapiens 48-66 13910-6 1977 Relative specific activities of GM1-ganglioside beta-galactosidase toward the same series of the substrates were 0.3, 78, 19, 100, 150 and 240; However, the optimal assay conditions for any given natural substrate were sufficiently different for each beta-galactosidase so that diagnostic assays for the two genetic diseases due to beta-galactosidase deficiencies could be carried out in whole tissues. G(M1) Ganglioside 32-47 galactosidase beta 1 Homo sapiens 251-269 409573-2 1977 We have demonstrated complete inhibition of GM1 ganglioside beta-galactosidase activity in vitro by both heparan sulfate and dermatan sulfate, but the effect on lactosylceramide and galactosylceramide hydrolysis was less marked. G(M1) Ganglioside 44-59 galactosidase beta 1 Homo sapiens 60-78 962854-3 1976 It has the same ability to hydrolyse GM1 ganglioside as the two other acid beta-galactosidase forms. G(M1) Ganglioside 37-52 galactosidase beta 1 Homo sapiens 75-93 817853-2 1976 In fibroblasts, ganglioside GM1 beta-galactosidase activity averaged 7% of the normal mean while asialofetuin beta-galactosidase and 4-methylumbe lifery-beta-galactosidase averaged 1.4% and 3.5%, respectively. G(M1) Ganglioside 16-31 galactosidase beta 1 Homo sapiens 32-50 817853-3 1976 Activities for all three substrates in leucocytes from both her parents were close to 50% of the normal mean indicating that the patient is homozygous for a mutation (or mutations) affecting GM1 beta-galactosidase. G(M1) Ganglioside 191-194 galactosidase beta 1 Homo sapiens 195-213 814123-5 1976 The purified activator stimulates the hydrolysis of GM1 by beta-galactosidase, GM2 by beta-hexosaminidase, as well as ceramide trihexoside by alpha-galactosidase A or B. G(M1) Ganglioside 52-55 galactosidase beta 1 Homo sapiens 59-77 821451-5 1975 In leukocytes, the activity of p-nitrophenyl-beta-galactosidase was below 5%, and that of GM1-ganglioside beta-galactosidase below 1% of values obtained in controls. G(M1) Ganglioside 90-105 galactosidase beta 1 Homo sapiens 106-124 4214813-0 1974 GM1 ganglioside beta-galactosidase. G(M1) Ganglioside 0-3 galactosidase beta 1 Homo sapiens 16-34 30555092-0 2018 Identification of a novel GLB1 mutation in a consanguineous Pakistani family affected by rare infantile GM1 gangliosidosis. G(M1) Ganglioside 104-107 galactosidase beta 1 Homo sapiens 26-30 4258708-0 1972 Leukocyte beta-galactosidase activity in the diagnosis of generalized GM 1 gangliosidosis. G(M1) Ganglioside 70-74 galactosidase beta 1 Homo sapiens 10-28 24156116-0 1993 GLB1-Related Disorders CLINICAL CHARACTERISTICS: GLB1-related disorders comprise two phenotypically distinct lysosomal storage disorders: GM1 gangliosidosis and mucopolysaccharidosis type IVB (MPS IVB). G(M1) Ganglioside 138-141 galactosidase beta 1 Homo sapiens 0-4 24156116-0 1993 GLB1-Related Disorders CLINICAL CHARACTERISTICS: GLB1-related disorders comprise two phenotypically distinct lysosomal storage disorders: GM1 gangliosidosis and mucopolysaccharidosis type IVB (MPS IVB). G(M1) Ganglioside 138-141 galactosidase beta 1 Homo sapiens 49-53 33859490-2 2021 Mutation of the GLB1 gene, which codes for beta-gal, prevents cleavage of the terminal beta-1,4-linked galactose residue from GM1 ganglioside. G(M1) Ganglioside 126-141 galactosidase beta 1 Homo sapiens 16-20 32779865-1 2020 BACKGROUND: In GM1 gangliosidosis the lack of function of beta-galactosidase results in an accumulation of GM1 ganglioside and related glycoconjugates in visceral organs, and particularly in the central nervous system, leading to severe disability and premature death. G(M1) Ganglioside 15-18 galactosidase beta 1 Homo sapiens 58-76 32779865-1 2020 BACKGROUND: In GM1 gangliosidosis the lack of function of beta-galactosidase results in an accumulation of GM1 ganglioside and related glycoconjugates in visceral organs, and particularly in the central nervous system, leading to severe disability and premature death. G(M1) Ganglioside 107-122 galactosidase beta 1 Homo sapiens 58-76 30675867-1 2019 GM1 gangliosidosis is an autosomal recessive disorder caused by galactosidase beta1 (GLB1) gene variants which affect the activity of beta-galactosidase (GLB). G(M1) Ganglioside 0-3 galactosidase beta 1 Homo sapiens 64-83 30675867-1 2019 GM1 gangliosidosis is an autosomal recessive disorder caused by galactosidase beta1 (GLB1) gene variants which affect the activity of beta-galactosidase (GLB). G(M1) Ganglioside 0-3 galactosidase beta 1 Homo sapiens 85-89 30675867-1 2019 GM1 gangliosidosis is an autosomal recessive disorder caused by galactosidase beta1 (GLB1) gene variants which affect the activity of beta-galactosidase (GLB). G(M1) Ganglioside 0-3 galactosidase beta 1 Homo sapiens 134-152 30555092-1 2018 Monosialotetrahexosylganglioside (GM1) is a rare lysosomal storage disorder caused by the deficiency of beta-galactosidase (beta-Gal) encoded by galactose beta 1 (GLB1). G(M1) Ganglioside 0-32 galactosidase beta 1 Homo sapiens 145-161 30555092-1 2018 Monosialotetrahexosylganglioside (GM1) is a rare lysosomal storage disorder caused by the deficiency of beta-galactosidase (beta-Gal) encoded by galactose beta 1 (GLB1). G(M1) Ganglioside 0-32 galactosidase beta 1 Homo sapiens 163-167 30555092-1 2018 Monosialotetrahexosylganglioside (GM1) is a rare lysosomal storage disorder caused by the deficiency of beta-galactosidase (beta-Gal) encoded by galactose beta 1 (GLB1). G(M1) Ganglioside 34-37 galactosidase beta 1 Homo sapiens 124-132 30555092-1 2018 Monosialotetrahexosylganglioside (GM1) is a rare lysosomal storage disorder caused by the deficiency of beta-galactosidase (beta-Gal) encoded by galactose beta 1 (GLB1). G(M1) Ganglioside 34-37 galactosidase beta 1 Homo sapiens 145-161 30555092-1 2018 Monosialotetrahexosylganglioside (GM1) is a rare lysosomal storage disorder caused by the deficiency of beta-galactosidase (beta-Gal) encoded by galactose beta 1 (GLB1). G(M1) Ganglioside 34-37 galactosidase beta 1 Homo sapiens 163-167 30267299-1 2018 GM1 gangliosidosis is an autosomal recessive lysosomal storage disease caused by the deficiency of beta-galactosidase activity, precisely due to mutations in the GLB1 gene. G(M1) Ganglioside 0-3 galactosidase beta 1 Homo sapiens 162-166 30267299-2 2018 To explore the clinical and molecular characteristics of GM1 gangliosidosis patients from China, GLB1 gene were analyzed in 11 probands with GM1 gangliosidosis by exploiting direct Sanger-sequencing. G(M1) Ganglioside 57-60 galactosidase beta 1 Homo sapiens 97-101 30267299-2 2018 To explore the clinical and molecular characteristics of GM1 gangliosidosis patients from China, GLB1 gene were analyzed in 11 probands with GM1 gangliosidosis by exploiting direct Sanger-sequencing. G(M1) Ganglioside 141-144 galactosidase beta 1 Homo sapiens 97-101 30581635-1 2018 GM1 gangliosidosis is an autosomal recessive lysosomal storage disorder due to mutations in the lysosomal acid 3-galactosidase gene, GLB1. G(M1) Ganglioside 0-3 galactosidase beta 1 Homo sapiens 133-137 4774399-0 1973 Hydrolysis of GM1-ganglioside by human liver beta-galactosidase isoenzymes. G(M1) Ganglioside 14-29 galactosidase beta 1 Homo sapiens 45-63 4774399-2 1973 GM(1)-ganglioside, specifically tritiated in the terminal galactose, was hydrolysed by two forms of ;acid" methylumbelliferyl beta-galactosidase isolated on gel filtration. G(M1) Ganglioside 0-17 galactosidase beta 1 Homo sapiens 126-144 4774399-4 1973 Identification of GM(1)-ganglioside beta-galactosidase activity with the ;acid" methyl-umbelliferyl beta-galactosidases was based on the following: coincident elution profiles on gel filtration; simultaneous inactivation by heat and other treatments; stabilization of both activities by chloride ions; mutual inhibition of hydrolysis by the two substrates. G(M1) Ganglioside 18-35 galactosidase beta 1 Homo sapiens 36-54 31534909-0 2019 Human GLB1 knockout cerebral organoids: A model system for testing AAV9-mediated GLB1 gene therapy for reducing GM1 ganglioside storage in GM1 gangliosidosis. G(M1) Ganglioside 112-127 galactosidase beta 1 Homo sapiens 6-10 31534909-0 2019 Human GLB1 knockout cerebral organoids: A model system for testing AAV9-mediated GLB1 gene therapy for reducing GM1 ganglioside storage in GM1 gangliosidosis. G(M1) Ganglioside 112-127 galactosidase beta 1 Homo sapiens 81-85 31534909-7 2019 Analysis of GLB1 knockout organoids in culture revealed progressive accumulation of GM1 ganglioside. G(M1) Ganglioside 84-99 galactosidase beta 1 Homo sapiens 12-16 31534909-8 2019 GLB1 knockout organoids microinjected with AAV9-GLB1 vector showed a significant increase in beta-gal activity and a significant reduction in GM1 ganglioside content compared with AAV9-GFP-injected organoids, demonstrating the efficacy of an AAV9 gene therapy-based approach in GM1 gangliosidosis. G(M1) Ganglioside 142-157 galactosidase beta 1 Homo sapiens 0-4 31534909-8 2019 GLB1 knockout organoids microinjected with AAV9-GLB1 vector showed a significant increase in beta-gal activity and a significant reduction in GM1 ganglioside content compared with AAV9-GFP-injected organoids, demonstrating the efficacy of an AAV9 gene therapy-based approach in GM1 gangliosidosis. G(M1) Ganglioside 142-157 galactosidase beta 1 Homo sapiens 48-52 30703229-9 2019 CONCLUSION: The c.2006-2007insT and c.475-476 insGGTCC mutations of the GLB1 gene probably underlie the GM1 gangliosidosis resulting in the growth retardation in the child. G(M1) Ganglioside 104-107 galactosidase beta 1 Homo sapiens 72-76 30187681-1 2018 BACKGROUND: Beta-galactosidase-1 (GLB1) is a lysosomal hydrolase that is responsible for breaking down specific glycoconjugates, particularly GM1 (monosialotetrahexosylganglioside). G(M1) Ganglioside 142-145 galactosidase beta 1 Homo sapiens 34-38 30187681-1 2018 BACKGROUND: Beta-galactosidase-1 (GLB1) is a lysosomal hydrolase that is responsible for breaking down specific glycoconjugates, particularly GM1 (monosialotetrahexosylganglioside). G(M1) Ganglioside 147-179 galactosidase beta 1 Homo sapiens 34-38 30187681-4 2018 We present a 22-month-old proband with GM1 gangliosidosis type II (late-infantile form) in whom a novel homozygous in-frame deletion (c.1468_1470delAAC, p.Asn490del) in GLB1 was detected. G(M1) Ganglioside 39-42 galactosidase beta 1 Homo sapiens 169-173 30555092-1 2018 Monosialotetrahexosylganglioside (GM1) is a rare lysosomal storage disorder caused by the deficiency of beta-galactosidase (beta-Gal) encoded by galactose beta 1 (GLB1). G(M1) Ganglioside 0-32 galactosidase beta 1 Homo sapiens 124-132 29439846-1 2018 BACKGROUND: GM1 gangliosidosis is a rare lysosomal storage disorder caused by GLB1 mutations. G(M1) Ganglioside 12-15 galactosidase beta 1 Homo sapiens 78-82 29439846-4 2018 METHODS: We confirmed a diagnosis of GM1 gangliosidosis based on GLB1 mutations and/or the deficiency of beta-galactosidase activity. G(M1) Ganglioside 37-40 galactosidase beta 1 Homo sapiens 65-69 29396849-8 2018 Further, we investigated the phenotype severity of known disease-causing mutations of the GLB1 gene, which lead to 2 LSDs (GM1 gangliosidosis and Morquio disease type B). G(M1) Ganglioside 123-126 galactosidase beta 1 Homo sapiens 90-94 29111890-5 2017 PEGPLA polymersomes facilitate delivery of active beta-galactosidase to an in vitro model of GM1 gangliosidosis. G(M1) Ganglioside 93-96 galactosidase beta 1 Homo sapiens 50-68 28716012-0 2017 Case reports of juvenile GM1 gangliosidosisis type II caused by mutation in GLB1 gene. G(M1) Ganglioside 25-28 galactosidase beta 1 Homo sapiens 76-80 25600812-5 2015 GM1 gangliosidosis is caused by mutations in the GLB1 gene that encodes beta-galactosidase. G(M1) Ganglioside 0-3 galactosidase beta 1 Homo sapiens 49-53 26766614-7 2016 Purified proteins representing both fusion orientations were efficiently taken up into GM1 patient fibroblasts and mediated the reduction of GM1 ganglioside substrate with activities matching mammalian cell-derived beta-galactosidase. G(M1) Ganglioside 141-156 galactosidase beta 1 Homo sapiens 215-233 25691190-1 2015 BACKGROUND: GM1 gangliosidosis is a disorder due to GLB1 gene mutation. G(M1) Ganglioside 12-15 galactosidase beta 1 Homo sapiens 52-56 25600812-5 2015 GM1 gangliosidosis is caused by mutations in the GLB1 gene that encodes beta-galactosidase. G(M1) Ganglioside 0-3 galactosidase beta 1 Homo sapiens 72-90 25600812-6 2015 A lack of beta-galactosidase activity leads to the massive accumulation of GM1 ganglioside, which results in neurodegenerative pathology. G(M1) Ganglioside 75-90 galactosidase beta 1 Homo sapiens 10-28 24737316-1 2014 GM1 gangliosidosis and Morquio B disease are autosomal recessive diseases caused by the defect in the lysosomal beta-galactosidase (beta-Gal), frequently related to misfolding and subsequent endoplasmic reticulum-associated degradation. G(M1) Ganglioside 0-3 galactosidase beta 1 Homo sapiens 112-130 24737316-3 2014 In this report, we describe the enzymological properties of purified recombinant human beta-Gal(WT) and two representative mutations in GM1 gangliosidosis Japanese patients, beta-Gal(R201C) and beta-Gal(I51T). G(M1) Ganglioside 136-139 galactosidase beta 1 Homo sapiens 174-182 24737316-1 2014 GM1 gangliosidosis and Morquio B disease are autosomal recessive diseases caused by the defect in the lysosomal beta-galactosidase (beta-Gal), frequently related to misfolding and subsequent endoplasmic reticulum-associated degradation. G(M1) Ganglioside 0-3 galactosidase beta 1 Homo sapiens 132-140 24737316-3 2014 In this report, we describe the enzymological properties of purified recombinant human beta-Gal(WT) and two representative mutations in GM1 gangliosidosis Japanese patients, beta-Gal(R201C) and beta-Gal(I51T). G(M1) Ganglioside 136-139 galactosidase beta 1 Homo sapiens 174-182 23046582-3 2013 Here we review GLB1 mutations and clinical features from 65 Brazilian GM1 gangliosidosis patients. G(M1) Ganglioside 70-73 galactosidase beta 1 Homo sapiens 15-19 23831247-1 2013 BACKGROUND: GM1 gangliosidosis is a rare disease due to mutations in the GLB1 gene and autosomal recessive deficiency of beta-galactosidase. G(M1) Ganglioside 12-15 galactosidase beta 1 Homo sapiens 73-77 22033734-5 2012 Our previous work on mutations of the beta-galactosidase (beta-gal) gene, causing GM1 gangliosidosis (GM1) and Morquio B disease (MBD), respectively, characterized clinical phenotypes as well as biosynthesis, intracellular transport and subcellular localization of mutants. G(M1) Ganglioside 82-85 galactosidase beta 1 Homo sapiens 38-56 22234367-0 2012 Four novel mutations in the beta-galactosidase gene identified in infantile type of GM1 gangliosidosis. G(M1) Ganglioside 84-87 galactosidase beta 1 Homo sapiens 28-46 22033734-5 2012 Our previous work on mutations of the beta-galactosidase (beta-gal) gene, causing GM1 gangliosidosis (GM1) and Morquio B disease (MBD), respectively, characterized clinical phenotypes as well as biosynthesis, intracellular transport and subcellular localization of mutants. G(M1) Ganglioside 82-85 galactosidase beta 1 Homo sapiens 38-46 20920281-0 2010 Three novel beta-galactosidase gene mutations in Han Chinese patients with GM1 gangliosidosis are correlated with disease severity. G(M1) Ganglioside 75-78 galactosidase beta 1 Homo sapiens 12-30 21497194-2 2011 Here we report the beta-galactosidase gene (GLB1) mutation analysis of 21 unrelated GM1 gangliosidosis patients, and of 4 Morquio B patients, of whom two are brothers. G(M1) Ganglioside 84-87 galactosidase beta 1 Homo sapiens 44-48 21978926-5 2012 beta-hexosaminidase and beta-galactosidase cleave specific beta-linked terminal residues from a wide range of glycoconjugates and in particular are involved in the stepwise degradation of GM1 to GM3 ganglioside. G(M1) Ganglioside 188-191 galactosidase beta 1 Homo sapiens 24-42 22001501-1 2011 GM1 gangliosidosis, a neurodegenerative disorder, and Morquio B disease, a skeletal disorder, are lysosomal storage disorders caused by inherited defects in the enzyme beta-galactosidase (GLB1; EC 3.1.2.23; MIM #611458). G(M1) Ganglioside 0-3 galactosidase beta 1 Homo sapiens 188-192 20920281-1 2010 BACKGROUND: GM1 gangliosidosis (GM1) is an autosomal recessive lysosomal storage disease caused by deficiency of acid beta-galactosidase (GLB1; EC3.2.1.23). G(M1) Ganglioside 12-15 galactosidase beta 1 Homo sapiens 138-142 20920281-1 2010 BACKGROUND: GM1 gangliosidosis (GM1) is an autosomal recessive lysosomal storage disease caused by deficiency of acid beta-galactosidase (GLB1; EC3.2.1.23). G(M1) Ganglioside 32-35 galactosidase beta 1 Homo sapiens 138-142 20920281-2 2010 Here, we identify three novel mutations in the GLB1 gene from two Han Chinese patients with GM1 that appear correlated with clinical phenotype. G(M1) Ganglioside 92-95 galactosidase beta 1 Homo sapiens 47-51 20175788-1 2010 GM1 gangliosidosis manifests with progressive psychomotor deterioration and dysostosis of infantile, juvenile, or adult onset, caused by alterations in the structural gene coding for lysosomal acid beta-galactosidase (GLB1). G(M1) Ganglioside 0-3 galactosidase beta 1 Homo sapiens 193-216 20175788-1 2010 GM1 gangliosidosis manifests with progressive psychomotor deterioration and dysostosis of infantile, juvenile, or adult onset, caused by alterations in the structural gene coding for lysosomal acid beta-galactosidase (GLB1). G(M1) Ganglioside 0-3 galactosidase beta 1 Homo sapiens 218-222 20175788-3 2010 More than 100 sequence alterations in the GLB1 gene have been identified so far, but only few could be proven to be predictive for one of the GM1 gangliosidosis subtypes or MBD. G(M1) Ganglioside 142-145 galactosidase beta 1 Homo sapiens 42-46 19472408-1 2009 Alterations in GLB1, the gene coding for acid beta-D-galactosidase (beta-Gal), can result in GM1 gangliosidosis (GM1), a neurodegenerative disorder, or in Morquio B disease (MBD), a phenotype with dysostosis multiplex and normal central nervous system (CNS) function. G(M1) Ganglioside 93-96 galactosidase beta 1 Homo sapiens 15-19 18392450-0 2008 Transient high-level expression of beta-galactosidase after transfection of fibroblasts from GM1 gangliosidosis patients with plasmid DNA. G(M1) Ganglioside 93-96 galactosidase beta 1 Homo sapiens 35-53 18392450-1 2008 GM1 gangliosidosis is an autosomal recessive disorder caused by the deficiency of lysosomal acid hydrolase beta-galactosidase (beta-Gal). G(M1) Ganglioside 0-3 galactosidase beta 1 Homo sapiens 107-125 18392450-1 2008 GM1 gangliosidosis is an autosomal recessive disorder caused by the deficiency of lysosomal acid hydrolase beta-galactosidase (beta-Gal). G(M1) Ganglioside 0-3 galactosidase beta 1 Homo sapiens 127-135