PubMed:24737316
Annnotations
GlyCosmos6-Glycan-Motif-Image
Id | Subject | Object | Predicate | Lexical cue | image |
---|---|---|---|---|---|
T1 | 75-78 | Glycan_Motif | denotes | GM1 | https://api.glycosmos.org/wurcs2image/0.10.0/png/binary/G48558GR|https://api.glycosmos.org/wurcs2image/0.10.0/png/binary/G46613JI |
T3 | 726-729 | Glycan_Motif | denotes | GM1 | https://api.glycosmos.org/wurcs2image/0.10.0/png/binary/G48558GR|https://api.glycosmos.org/wurcs2image/0.10.0/png/binary/G46613JI |
Glycosmos6-GlycoEpitope
Id | Subject | Object | Predicate | Lexical cue | glyco_epitope_db_id |
---|---|---|---|---|---|
T1 | 75-78 | GlycoEpitope | denotes | GM1 | http://www.glycoepitope.jp/epitopes/EP0050 |
T2 | 726-729 | GlycoEpitope | denotes | GM1 | http://www.glycoepitope.jp/epitopes/EP0050 |
sentences
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T1 | 0-74 | Sentence | denotes | Structural basis of pharmacological chaperoning for human β-galactosidase. |
T2 | 75-305 | Sentence | denotes | GM1 gangliosidosis and Morquio B disease are autosomal recessive diseases caused by the defect in the lysosomal β-galactosidase (β-Gal), frequently related to misfolding and subsequent endoplasmic reticulum-associated degradation. |
T3 | 306-592 | Sentence | denotes | Pharmacological chaperone (PC) therapy is a newly developed molecular therapeutic approach by using small molecule ligands of the mutant enzyme that are able to promote the correct folding and prevent endoplasmic reticulum-associated degradation and promote trafficking to the lysosome. |
T4 | 593-793 | Sentence | denotes | In this report, we describe the enzymological properties of purified recombinant human β-Gal(WT) and two representative mutations in GM1 gangliosidosis Japanese patients, β-Gal(R201C) and β-Gal(I51T). |
T5 | 794-870 | Sentence | denotes | We have also evaluated the PC effect of two competitive inhibitors of β-Gal. |
T6 | 871-1017 | Sentence | denotes | Moreover, we provide a detailed atomic view of the recognition mechanism of these compounds in comparison with two structurally related analogues. |
T7 | 1018-1143 | Sentence | denotes | All compounds bind to the active site of β-Gal with the sugar-mimicking moiety making hydrogen bonds to active site residues. |
T8 | 1144-1366 | Sentence | denotes | Moreover, the binding affinity, the enzyme selectivity, and the PC potential are strongly affected by the mono- or bicyclic structure of the core as well as the orientation, nature, and length of the exocyclic substituent. |
T9 | 1367-1493 | Sentence | denotes | These results provide understanding on the mechanism of action of β-Gal selective chaperoning by newly developed PC compounds. |
GlyCosmos6-Glycan-Motif-Structure
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T1 | 75-78 | https://glytoucan.org/Structures/Glycans/G46613JI | denotes | GM1 |
T2 | 75-78 | https://glytoucan.org/Structures/Glycans/G48558GR | denotes | GM1 |
T3 | 726-729 | https://glytoucan.org/Structures/Glycans/G46613JI | denotes | GM1 |
T4 | 726-729 | https://glytoucan.org/Structures/Glycans/G48558GR | denotes | GM1 |
DisGeNET
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T0 | 187-202 | gene:2720 | denotes | β-galactosidase |
T1 | 98-115 | disease:C0086652 | denotes | Morquio B disease |
T2 | 781-786 | gene:2720 | denotes | β-Gal |
T3 | 726-744 | disease:C0085131 | denotes | GM1 gangliosidosis |
T4 | 680-685 | gene:2720 | denotes | β-Gal |
T5 | 726-744 | disease:C0085131 | denotes | GM1 gangliosidosis |
R1 | T0 | T1 | associated_with | β-galactosidase,Morquio B disease |
R2 | T2 | T3 | associated_with | β-Gal,GM1 gangliosidosis |
R3 | T4 | T5 | associated_with | β-Gal,GM1 gangliosidosis |
PubmedHPO
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T1 | 120-139 | HP_0000007 | denotes | autosomal recessive |
Allie
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
SS1_24737316_1_0 | 187-202 | expanded | denotes | β-galactosidase |
SS2_24737316_1_0 | 204-209 | abbr | denotes | β-Gal |
SS1_24737316_2_0 | 306-331 | expanded | denotes | Pharmacological chaperone |
SS2_24737316_2_0 | 333-335 | abbr | denotes | PC |
AE1_24737316_1_0 | SS1_24737316_1_0 | SS2_24737316_1_0 | abbreviatedTo | β-galactosidase,β-Gal |
AE1_24737316_2_0 | SS1_24737316_2_0 | SS2_24737316_2_0 | abbreviatedTo | Pharmacological chaperone,PC |
DisGeNET5_variant_disease
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
24737316-3#194#198#geners72555390 | 787-791 | geners72555390 | denotes | I51T |
24737316-3#133#151#diseaseC0085131 | 726-744 | diseaseC0085131 | denotes | GM1 gangliosidosis |
194#198#geners72555390133#151#diseaseC0085131 | 24737316-3#194#198#geners72555390 | 24737316-3#133#151#diseaseC0085131 | associated_with | I51T,GM1 gangliosidosis |
DisGeNET5_gene_disease
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
24737316-1#112#127#gene2720 | 187-202 | gene2720 | denotes | β-galactosidase |
24737316-1#129#134#gene2720 | 204-209 | gene2720 | denotes | β-Gal |
24737316-1#23#40#diseaseC0086652 | 98-115 | diseaseC0086652 | denotes | Morquio B disease |
24737316-3#87#92#gene2720 | 680-685 | gene2720 | denotes | β-Gal |
24737316-3#188#193#gene2720 | 781-786 | gene2720 | denotes | β-Gal |
24737316-3#133#151#diseaseC0085131 | 726-744 | diseaseC0085131 | denotes | GM1 gangliosidosis |
112#127#gene272023#40#diseaseC0086652 | 24737316-1#112#127#gene2720 | 24737316-1#23#40#diseaseC0086652 | associated_with | β-galactosidase,Morquio B disease |
129#134#gene272023#40#diseaseC0086652 | 24737316-1#129#134#gene2720 | 24737316-1#23#40#diseaseC0086652 | associated_with | β-Gal,Morquio B disease |
87#92#gene2720133#151#diseaseC0085131 | 24737316-3#87#92#gene2720 | 24737316-3#133#151#diseaseC0085131 | associated_with | β-Gal,GM1 gangliosidosis |
188#193#gene2720133#151#diseaseC0085131 | 24737316-3#188#193#gene2720 | 24737316-3#133#151#diseaseC0085131 | associated_with | β-Gal,GM1 gangliosidosis |
mondo_disease
Id | Subject | Object | Predicate | Lexical cue | mondo_id |
---|---|---|---|---|---|
T1 | 75-93 | Disease | denotes | GM1 gangliosidosis | http://purl.obolibrary.org/obo/MONDO_0018149 |
T2 | 120-148 | Disease | denotes | autosomal recessive diseases | http://purl.obolibrary.org/obo/MONDO_0006025 |
T3 | 726-744 | Disease | denotes | GM1 gangliosidosis | http://purl.obolibrary.org/obo/MONDO_0018149 |
Glycan-GlyCosmos
Id | Subject | Object | Predicate | Lexical cue | image |
---|---|---|---|---|---|
T1 | 75-78 | Glycan | denotes | GM1 | https://api.glycosmos.org/wurcs2image/latest/png/binary/G48558GR |
T2 | 726-729 | Glycan | denotes | GM1 | https://api.glycosmos.org/wurcs2image/latest/png/binary/G48558GR |
GlyCosmos-GlycoEpitope
Id | Subject | Object | Predicate | Lexical cue | glycoepitope_id |
---|---|---|---|---|---|
T1 | 75-78 | http://purl.jp/bio/12/glyco/glycan#Glycan_epitope | denotes | GM1 | http://www.glycoepitope.jp/epitopes/EP0050 |
T2 | 726-729 | http://purl.jp/bio/12/glyco/glycan#Glycan_epitope | denotes | GM1 | http://www.glycoepitope.jp/epitopes/EP0050 |
GlyCosmos15-MONDO
Id | Subject | Object | Predicate | Lexical cue | mondo_id |
---|---|---|---|---|---|
T1 | 75-93 | Disease | denotes | GM1 gangliosidosis | http://purl.obolibrary.org/obo/MONDO_0018149 |
T2 | 120-148 | Disease | denotes | autosomal recessive diseases | http://purl.obolibrary.org/obo/MONDO_0006025 |
T3 | 726-744 | Disease | denotes | GM1 gangliosidosis | http://purl.obolibrary.org/obo/MONDO_0018149 |
GlyCosmos15-NCBITAXON
Id | Subject | Object | Predicate | Lexical cue | db_id |
---|---|---|---|---|---|
T1 | 52-57 | OrganismTaxon | denotes | human | 9606 |
T2 | 674-679 | OrganismTaxon | denotes | human | 9606 |
GlyCosmos15-UBERON
Id | Subject | Object | Predicate | Lexical cue | uberon_id |
---|---|---|---|---|---|
T1 | 272-281 | Body_part | denotes | reticulum | http://purl.obolibrary.org/obo/UBERON_0007361 |
T2 | 519-528 | Body_part | denotes | reticulum | http://purl.obolibrary.org/obo/UBERON_0007361 |
T3 | 583-591 | Body_part | denotes | lysosome | http://purl.obolibrary.org/obo/GO_0005764 |
sentences
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T1 | 0-74 | Sentence | denotes | Structural basis of pharmacological chaperoning for human β-galactosidase. |
T2 | 75-305 | Sentence | denotes | GM1 gangliosidosis and Morquio B disease are autosomal recessive diseases caused by the defect in the lysosomal β-galactosidase (β-Gal), frequently related to misfolding and subsequent endoplasmic reticulum-associated degradation. |
T3 | 306-592 | Sentence | denotes | Pharmacological chaperone (PC) therapy is a newly developed molecular therapeutic approach by using small molecule ligands of the mutant enzyme that are able to promote the correct folding and prevent endoplasmic reticulum-associated degradation and promote trafficking to the lysosome. |
T4 | 593-793 | Sentence | denotes | In this report, we describe the enzymological properties of purified recombinant human β-Gal(WT) and two representative mutations in GM1 gangliosidosis Japanese patients, β-Gal(R201C) and β-Gal(I51T). |
T5 | 794-870 | Sentence | denotes | We have also evaluated the PC effect of two competitive inhibitors of β-Gal. |
T6 | 871-1017 | Sentence | denotes | Moreover, we provide a detailed atomic view of the recognition mechanism of these compounds in comparison with two structurally related analogues. |
T7 | 1018-1143 | Sentence | denotes | All compounds bind to the active site of β-Gal with the sugar-mimicking moiety making hydrogen bonds to active site residues. |
T8 | 1144-1366 | Sentence | denotes | Moreover, the binding affinity, the enzyme selectivity, and the PC potential are strongly affected by the mono- or bicyclic structure of the core as well as the orientation, nature, and length of the exocyclic substituent. |
T9 | 1367-1493 | Sentence | denotes | These results provide understanding on the mechanism of action of β-Gal selective chaperoning by newly developed PC compounds. |
GlyCosmos15-Sentences
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T1 | 0-74 | Sentence | denotes | Structural basis of pharmacological chaperoning for human β-galactosidase. |
T2 | 75-305 | Sentence | denotes | GM1 gangliosidosis and Morquio B disease are autosomal recessive diseases caused by the defect in the lysosomal β-galactosidase (β-Gal), frequently related to misfolding and subsequent endoplasmic reticulum-associated degradation. |
T3 | 306-592 | Sentence | denotes | Pharmacological chaperone (PC) therapy is a newly developed molecular therapeutic approach by using small molecule ligands of the mutant enzyme that are able to promote the correct folding and prevent endoplasmic reticulum-associated degradation and promote trafficking to the lysosome. |
T4 | 593-793 | Sentence | denotes | In this report, we describe the enzymological properties of purified recombinant human β-Gal(WT) and two representative mutations in GM1 gangliosidosis Japanese patients, β-Gal(R201C) and β-Gal(I51T). |
T5 | 794-1017 | Sentence | denotes | We have also evaluated the PC effect of two competitive inhibitors of β-Gal. Moreover, we provide a detailed atomic view of the recognition mechanism of these compounds in comparison with two structurally related analogues. |
T6 | 1018-1143 | Sentence | denotes | All compounds bind to the active site of β-Gal with the sugar-mimicking moiety making hydrogen bonds to active site residues. |
T7 | 1144-1366 | Sentence | denotes | Moreover, the binding affinity, the enzyme selectivity, and the PC potential are strongly affected by the mono- or bicyclic structure of the core as well as the orientation, nature, and length of the exocyclic substituent. |
T8 | 1367-1493 | Sentence | denotes | These results provide understanding on the mechanism of action of β-Gal selective chaperoning by newly developed PC compounds. |
GlyCosmos15-Glycan
Id | Subject | Object | Predicate | Lexical cue | image |
---|---|---|---|---|---|
T1 | 75-78 | Glycan | denotes | GM1 | https://api.glycosmos.org/wurcs2image/latest/png/binary/G48558GR |
T2 | 726-729 | Glycan | denotes | GM1 | https://api.glycosmos.org/wurcs2image/latest/png/binary/G48558GR |
GlyCosmos15-GlycoEpitope
Id | Subject | Object | Predicate | Lexical cue | glycoepitope_id |
---|---|---|---|---|---|
T1 | 75-78 | http://purl.jp/bio/12/glyco/glycan#Glycan_epitope | denotes | GM1 | http://www.glycoepitope.jp/epitopes/EP0050 |
T2 | 726-729 | http://purl.jp/bio/12/glyco/glycan#Glycan_epitope | denotes | GM1 | http://www.glycoepitope.jp/epitopes/EP0050 |
NCBITAXON
Id | Subject | Object | Predicate | Lexical cue | db_id |
---|---|---|---|---|---|
T1 | 52-57 | OrganismTaxon | denotes | human | 9606 |
T2 | 674-679 | OrganismTaxon | denotes | human | 9606 |
Anatomy-UBERON
Id | Subject | Object | Predicate | Lexical cue | uberon_id |
---|---|---|---|---|---|
T1 | 272-281 | Body_part | denotes | reticulum | http://purl.obolibrary.org/obo/UBERON_0007361 |
T2 | 519-528 | Body_part | denotes | reticulum | http://purl.obolibrary.org/obo/UBERON_0007361 |
T3 | 583-591 | Body_part | denotes | lysosome | http://purl.obolibrary.org/obo/GO_0005764 |