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PubMed:24737316 JSONTXT

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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