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PubMed:28584052 JSONTXT

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GlyCosmos15-Species-PubTator

Id Subject Object Predicate Lexical cue db_id
25393 59-67 Species denotes patients 9606
25409 1436-1443 Species denotes patient 9606
25413 1090-1097 Species denotes patient 9606
25418 629-635 Species denotes humans 9606

GlyCosmos6-Glycan-Motif-Image

Id Subject Object Predicate Lexical cue image
T1 13-32 Glycan_Motif denotes N-acetylglucosamine https://api.glycosmos.org/wurcs2image/0.10.0/png/binary/G64581RP
T2 34-42 Glycan_Motif denotes O-GlcNAc https://api.glycosmos.org/wurcs2image/0.10.0/png/binary/G89565QL|https://api.glycosmos.org/wurcs2image/0.10.0/png/binary/G49108TO
T4 107-126 Glycan_Motif denotes N-Acetylglucosamine https://api.glycosmos.org/wurcs2image/0.10.0/png/binary/G64581RP
T5 128-136 Glycan_Motif denotes O-GlcNAc https://api.glycosmos.org/wurcs2image/0.10.0/png/binary/G89565QL|https://api.glycosmos.org/wurcs2image/0.10.0/png/binary/G49108TO
T7 253-261 Glycan_Motif denotes O-GlcNAc https://api.glycosmos.org/wurcs2image/0.10.0/png/binary/G89565QL|https://api.glycosmos.org/wurcs2image/0.10.0/png/binary/G49108TO
T9 1130-1138 Glycan_Motif denotes O-GlcNAc https://api.glycosmos.org/wurcs2image/0.10.0/png/binary/G89565QL|https://api.glycosmos.org/wurcs2image/0.10.0/png/binary/G49108TO
T11 1787-1795 Glycan_Motif denotes O-GlcNAc https://api.glycosmos.org/wurcs2image/0.10.0/png/binary/G89565QL|https://api.glycosmos.org/wurcs2image/0.10.0/png/binary/G49108TO

LitCoin-entities-OrganismTaxon-PD

Id Subject Object Predicate Lexical cue db_id
T1 629-635 OrganismTaxon denotes humans NCBItxid:9605

LitCoin-sentences

Id Subject Object Predicate Lexical cue
T1 0-106 Sentence denotes Mutations in N-acetylglucosamine (O-GlcNAc) transferase in patients with X-linked intellectual disability.
T2 107-248 Sentence denotes N-Acetylglucosamine (O-GlcNAc) transferase (OGT) regulates protein O-GlcNAcylation, an essential and dynamic post-translational modification.
T3 249-423 Sentence denotes The O-GlcNAc modification is present on numerous nuclear and cytosolic proteins and has been implicated in essential cellular functions such as signaling and gene expression.
T4 424-549 Sentence denotes Accordingly, altered levels of protein O-GlcNAcylation have been associated with developmental defects and neurodegeneration.
T5 550-636 Sentence denotes However, mutations in the OGT gene have not yet been functionally confirmed in humans.
T6 637-868 Sentence denotes Here, we report on two hemizygous mutations in OGT in individuals with X-linked intellectual disability (XLID) and dysmorphic features: one missense mutation (p.Arg284Pro) and one mutation leading to a splicing defect (c.463-6T>G).
T7 869-976 Sentence denotes Both mutations reside in the tetratricopeptide repeats of OGT that are essential for substrate recognition.
T8 977-1172 Sentence denotes We observed slightly reduced levels of OGT protein and reduced levels of its opposing enzyme O-GlcNAcase in both patient-derived fibroblasts, but global O-GlcNAc levels appeared to be unaffected.
T9 1173-1293 Sentence denotes Our data suggest that mutant cells attempt to maintain global O-GlcNAcylation by down-regulating O-GlcNAcase expression.
T10 1294-1464 Sentence denotes We also found that the c.463-6T>G mutation leads to aberrant mRNA splicing, but no stable truncated protein was detected in the corresponding patient-derived fibroblasts.
T11 1465-1758 Sentence denotes Recombinant OGT bearing the p.Arg284Pro mutation was prone to unfolding and exhibited reduced glycosylation activity against a complex array of glycosylation substrates and proteolytic processing of the transcription factor host cell factor 1, which is also encoded by an XLID-associated gene.
T12 1759-1913 Sentence denotes We conclude that defects in O-GlcNAc homeostasis and host cell factor 1 proteolysis may play roles in mediation of XLID in individuals with OGT mutations.

LitCoin-entities

Id Subject Object Predicate Lexical cue db_id
13047 13-55 GeneOrGeneProduct denotes N-acetylglucosamine (O-GlcNAc) transferase NCBIGene:8473
13048 59-67 OrganismTaxon denotes patients NCBITaxon:9606
13049 73-105 DiseaseOrPhenotypicFeature denotes X-linked intellectual disability MESH:D038901
13050 107-149 GeneOrGeneProduct denotes N-Acetylglucosamine (O-GlcNAc) transferase NCBIGene:8473
13051 151-154 GeneOrGeneProduct denotes OGT NCBIGene:8473
13052 174-189 GeneOrGeneProduct denotes O-GlcNAcylation NCBIGene:8473
13053 253-261 GeneOrGeneProduct denotes O-GlcNAc NCBIGene:8473
13054 463-478 GeneOrGeneProduct denotes O-GlcNAcylation NCBIGene:8473
13055 505-526 DiseaseOrPhenotypicFeature denotes developmental defects MESH:D003147
13056 531-548 DiseaseOrPhenotypicFeature denotes neurodegeneration MESH:D019636
13057 576-579 GeneOrGeneProduct denotes OGT NCBIGene:8473
13058 629-635 OrganismTaxon denotes humans NCBITaxon:9606
13059 684-687 GeneOrGeneProduct denotes OGT NCBIGene:8473
13060 708-740 DiseaseOrPhenotypicFeature denotes X-linked intellectual disability MESH:D038901
13061 742-746 DiseaseOrPhenotypicFeature denotes XLID MESH:D038901
13062 796-807 SequenceVariant denotes p.Arg284Pro DBSNP:rs1114167891
13063 856-866 SequenceVariant denotes c.463-6T>G c|SUB|T463-6|G
13064 927-930 GeneOrGeneProduct denotes OGT NCBIGene:8473
13065 1016-1019 GeneOrGeneProduct denotes OGT NCBIGene:8473
13066 1070-1081 GeneOrGeneProduct denotes O-GlcNAcase NCBIGene:10724
13067 1090-1097 OrganismTaxon denotes patient NCBITaxon:9606
13068 1130-1138 GeneOrGeneProduct denotes O-GlcNAc NCBIGene:8473
13069 1235-1250 GeneOrGeneProduct denotes O-GlcNAcylation NCBIGene:8473
13070 1270-1281 GeneOrGeneProduct denotes O-GlcNAcase NCBIGene:10724
13071 1317-1327 SequenceVariant denotes c.463-6T>G c|SUB|T463-6|G
13072 1436-1443 OrganismTaxon denotes patient NCBITaxon:9606
13073 1477-1480 GeneOrGeneProduct denotes OGT NCBIGene:8473
13074 1493-1504 SequenceVariant denotes p.Arg284Pro DBSNP:rs1114167891
13075 1689-1707 GeneOrGeneProduct denotes host cell factor 1 NCBIGene:3054
13076 1737-1741 DiseaseOrPhenotypicFeature denotes XLID MESH:D038901
13077 1787-1795 GeneOrGeneProduct denotes O-GlcNAc NCBIGene:8473
13078 1812-1830 GeneOrGeneProduct denotes host cell factor 1 NCBIGene:3054
13079 1874-1878 DiseaseOrPhenotypicFeature denotes XLID MESH:D038901
13080 1899-1902 GeneOrGeneProduct denotes OGT NCBIGene:8473

LitCoin_Mondo

Id Subject Object Predicate Lexical cue mondo_id
T1 73-105 DiseaseOrPhenotypicFeature denotes X-linked intellectual disability 0100284
T2 82-105 DiseaseOrPhenotypicFeature denotes intellectual disability 0001071
T3 708-740 DiseaseOrPhenotypicFeature denotes X-linked intellectual disability 0100284
T4 717-740 DiseaseOrPhenotypicFeature denotes intellectual disability 0001071

LitCoin-SeqVar

Id Subject Object Predicate Lexical cue
T1 796-807 SequenceVariant denotes p.Arg284Pro
T2 856-866 SequenceVariant denotes c.463-6T>G
T3 1317-1327 SequenceVariant denotes c.463-6T>G
T4 1493-1504 SequenceVariant denotes p.Arg284Pro

LitCoin-GeneOrGeneProduct-v0

Id Subject Object Predicate Lexical cue
T1 0-9 GeneOrGeneProduct denotes Mutations
T2 36-42 GeneOrGeneProduct denotes GlcNAc
T3 44-55 GeneOrGeneProduct denotes transferase
T4 73-81 GeneOrGeneProduct denotes X-linked
T5 95-105 GeneOrGeneProduct denotes disability
T6 130-136 GeneOrGeneProduct denotes GlcNAc
T7 138-149 GeneOrGeneProduct denotes transferase
T8 166-173 GeneOrGeneProduct denotes protein
T9 216-220 GeneOrGeneProduct denotes post
T10 255-261 GeneOrGeneProduct denotes GlcNAc
T11 310-319 GeneOrGeneProduct denotes cytosolic
T12 320-328 GeneOrGeneProduct denotes proteins
T13 455-462 GeneOrGeneProduct denotes protein
T14 519-526 GeneOrGeneProduct denotes defects
T15 559-568 GeneOrGeneProduct denotes mutations
T16 671-680 GeneOrGeneProduct denotes mutations
T17 708-716 GeneOrGeneProduct denotes X-linked
T18 730-740 GeneOrGeneProduct denotes disability
T19 777-785 GeneOrGeneProduct denotes missense
T20 786-794 GeneOrGeneProduct denotes mutation
T21 817-825 GeneOrGeneProduct denotes mutation
T22 839-847 GeneOrGeneProduct denotes splicing
T23 848-854 GeneOrGeneProduct denotes defect
T24 874-883 GeneOrGeneProduct denotes mutations
T25 898-915 GeneOrGeneProduct denotes tetratricopeptide
T26 989-997 GeneOrGeneProduct denotes slightly
T27 998-1005 GeneOrGeneProduct denotes reduced
T28 1020-1027 GeneOrGeneProduct denotes protein
T29 1032-1039 GeneOrGeneProduct denotes reduced
T30 1063-1069 GeneOrGeneProduct denotes enzyme
T31 1070-1081 GeneOrGeneProduct denotes O-GlcNAcase
T32 1132-1138 GeneOrGeneProduct denotes GlcNAc
T33 1195-1201 GeneOrGeneProduct denotes mutant
T34 1202-1207 GeneOrGeneProduct denotes cells
T35 1259-1269 GeneOrGeneProduct denotes regulating
T36 1270-1281 GeneOrGeneProduct denotes O-GlcNAcase
T37 1328-1336 GeneOrGeneProduct denotes mutation
T38 1355-1359 GeneOrGeneProduct denotes mRNA
T39 1360-1368 GeneOrGeneProduct denotes splicing
T40 1384-1393 GeneOrGeneProduct denotes truncated
T41 1394-1401 GeneOrGeneProduct denotes protein
T42 1465-1476 GeneOrGeneProduct denotes Recombinant
T43 1505-1513 GeneOrGeneProduct denotes mutation
T44 1527-1536 GeneOrGeneProduct denotes unfolding
T45 1551-1558 GeneOrGeneProduct denotes reduced
T46 1573-1581 GeneOrGeneProduct denotes activity
T47 1650-1660 GeneOrGeneProduct denotes processing
T48 1668-1688 GeneOrGeneProduct denotes transcription factor
T49 1689-1707 GeneOrGeneProduct denotes host cell factor 1
T50 1776-1783 GeneOrGeneProduct denotes defects
T51 1789-1795 GeneOrGeneProduct denotes GlcNAc
T52 1812-1830 GeneOrGeneProduct denotes host cell factor 1
T53 1861-1870 GeneOrGeneProduct denotes mediation
T54 1903-1912 GeneOrGeneProduct denotes mutations

LitCoin-GeneOrGeneProduct-v2

Id Subject Object Predicate Lexical cue
T1 36-42 GeneOrGeneProduct denotes GlcNAc
T2 44-55 GeneOrGeneProduct denotes transferase
T3 73-81 GeneOrGeneProduct denotes X-linked
T4 130-136 GeneOrGeneProduct denotes GlcNAc
T5 138-149 GeneOrGeneProduct denotes transferase
T6 166-173 GeneOrGeneProduct denotes protein
T7 216-220 GeneOrGeneProduct denotes post
T8 255-261 GeneOrGeneProduct denotes GlcNAc
T9 310-319 GeneOrGeneProduct denotes cytosolic
T10 455-462 GeneOrGeneProduct denotes protein
T11 708-716 GeneOrGeneProduct denotes X-linked
T12 898-915 GeneOrGeneProduct denotes tetratricopeptide
T13 998-1005 GeneOrGeneProduct denotes reduced
T14 1020-1027 GeneOrGeneProduct denotes protein
T15 1032-1039 GeneOrGeneProduct denotes reduced
T16 1063-1069 GeneOrGeneProduct denotes enzyme
T17 1070-1081 GeneOrGeneProduct denotes O-GlcNAcase
T18 1132-1138 GeneOrGeneProduct denotes GlcNAc
T19 1195-1201 GeneOrGeneProduct denotes mutant
T20 1270-1281 GeneOrGeneProduct denotes O-GlcNAcase
T21 1355-1359 GeneOrGeneProduct denotes mRNA
T22 1384-1393 GeneOrGeneProduct denotes truncated
T23 1394-1401 GeneOrGeneProduct denotes protein
T24 1551-1558 GeneOrGeneProduct denotes reduced
T25 1650-1660 GeneOrGeneProduct denotes processing
T26 1668-1688 GeneOrGeneProduct denotes transcription factor
T27 1689-1707 GeneOrGeneProduct denotes host cell factor 1
T28 1789-1795 GeneOrGeneProduct denotes GlcNAc
T29 1812-1830 GeneOrGeneProduct denotes host cell factor 1

LitCoin-Disease-MeSH

Id Subject Object Predicate Lexical cue originalLabel
T1 82-105 DiseaseOrPhenotypicFeature denotes intellectual disability D008607
T2 531-548 DiseaseOrPhenotypicFeature denotes neurodegeneration DISEASE
T3 717-740 DiseaseOrPhenotypicFeature denotes intellectual disability D008607

LitCoin-GeneOrGeneProduct-v3

Id Subject Object Predicate Lexical cue
T1 44-55 GeneOrGeneProduct denotes transferase
T2 138-149 GeneOrGeneProduct denotes transferase
T3 156-173 GeneOrGeneProduct denotes regulates protein
T4 310-328 GeneOrGeneProduct denotes cytosolic proteins
T5 898-915 GeneOrGeneProduct denotes tetratricopeptide
T6 1070-1081 GeneOrGeneProduct denotes O-GlcNAcase
T7 1270-1281 GeneOrGeneProduct denotes O-GlcNAcase
T8 1668-1688 GeneOrGeneProduct denotes transcription factor
T9 1689-1707 GeneOrGeneProduct denotes host cell factor 1
T10 1812-1830 GeneOrGeneProduct denotes host cell factor 1

LitCoin_Mondo_095

Id Subject Object Predicate Lexical cue mondo_id
T1 73-105 DiseaseOrPhenotypicFeature denotes X-linked intellectual disability 0100284
T2 708-740 DiseaseOrPhenotypicFeature denotes X-linked intellectual disability 0100284
T3 742-746 DiseaseOrPhenotypicFeature denotes XLID 0100284
T4 848-854 DiseaseOrPhenotypicFeature denotes defect 0008568
T5 1737-1741 DiseaseOrPhenotypicFeature denotes XLID 0100284
T6 1874-1878 DiseaseOrPhenotypicFeature denotes XLID 0100284

LitCoin-MeSH-Disease-2

Id Subject Object Predicate Lexical cue ID:
T1 82-105 DiseaseOrPhenotypicFeature denotes intellectual disability D008607
T2 505-526 DiseaseOrPhenotypicFeature denotes developmental defects DISEASE
T3 531-548 DiseaseOrPhenotypicFeature denotes neurodegeneration DISEASE
T4 717-740 DiseaseOrPhenotypicFeature denotes intellectual disability D008607
T5 742-746 DiseaseOrPhenotypicFeature denotes XLID DISEASE
T6 1737-1741 DiseaseOrPhenotypicFeature denotes XLID DISEASE
T7 1874-1878 DiseaseOrPhenotypicFeature denotes XLID DISEASE

LitCoin-MONDO_bioort2019

Id Subject Object Predicate Lexical cue #label
T1 82-105 DiseaseOrPhenotypicFeature denotes intellectual disability D008607
T2 505-526 DiseaseOrPhenotypicFeature denotes developmental defects DISEASE
T3 531-548 DiseaseOrPhenotypicFeature denotes neurodegeneration DISEASE
T4 717-740 DiseaseOrPhenotypicFeature denotes intellectual disability D008607
T5 742-746 DiseaseOrPhenotypicFeature denotes XLID DISEASE
T6 1737-1741 DiseaseOrPhenotypicFeature denotes XLID DISEASE
T7 1874-1878 DiseaseOrPhenotypicFeature denotes XLID DISEASE

LitCoin-NCBITaxon-2

Id Subject Object Predicate Lexical cue
T1 59-67 OrganismTaxon denotes patients
T2 629-635 OrganismTaxon denotes humans
T3 1090-1097 OrganismTaxon denotes patient
T4 1436-1443 OrganismTaxon denotes patient

LitCoin-Chemical-MeSH-CHEBI

Id Subject Object Predicate Lexical cue ID:
T1 13-32 ChemicalEntity denotes N-acetylglucosamine http://purl.obolibrary.org/obo/CHEBI_59640|http://purl.obolibrary.org/obo/CHEBI_28009
T3 33-55 ChemicalEntity denotes (O-GlcNAc) transferase C449880
T4 107-126 ChemicalEntity denotes N-Acetylglucosamine http://purl.obolibrary.org/obo/CHEBI_59640
T5 109-126 ChemicalEntity denotes Acetylglucosamine http://purl.obolibrary.org/obo/CHEBI_28009
T6 127-149 ChemicalEntity denotes (O-GlcNAc) transferase C449880
T7 255-261 ChemicalEntity denotes GlcNAc http://purl.obolibrary.org/obo/CHEBI_73685|http://purl.obolibrary.org/obo/CHEBI_506227
T9 1070-1081 ChemicalEntity denotes O-GlcNAcase C110628
T10 1132-1138 ChemicalEntity denotes GlcNAc http://purl.obolibrary.org/obo/CHEBI_73685|http://purl.obolibrary.org/obo/CHEBI_506227
T12 1270-1281 ChemicalEntity denotes O-GlcNAcase C110628
T13 1789-1795 ChemicalEntity denotes GlcNAc http://purl.obolibrary.org/obo/CHEBI_73685|http://purl.obolibrary.org/obo/CHEBI_506227

LitCoin-training-merged

Id Subject Object Predicate Lexical cue #label ID:
T13 1789-1795 ChemicalEntity denotes GlcNAc http://purl.obolibrary.org/obo/CHEBI_506227|http://purl.obolibrary.org/obo/CHEBI_73685
T12 1270-1281 ChemicalEntity denotes O-GlcNAcase C110628
T10 1132-1138 ChemicalEntity denotes GlcNAc http://purl.obolibrary.org/obo/CHEBI_506227|http://purl.obolibrary.org/obo/CHEBI_73685
T9 1070-1081 ChemicalEntity denotes O-GlcNAcase C110628
T7 255-261 ChemicalEntity denotes GlcNAc http://purl.obolibrary.org/obo/CHEBI_506227|http://purl.obolibrary.org/obo/CHEBI_73685
T6 127-149 ChemicalEntity denotes (O-GlcNAc) transferase C449880
T5 109-126 ChemicalEntity denotes Acetylglucosamine http://purl.obolibrary.org/obo/CHEBI_28009
T4 107-126 ChemicalEntity denotes N-Acetylglucosamine http://purl.obolibrary.org/obo/CHEBI_59640
T3 33-55 ChemicalEntity denotes (O-GlcNAc) transferase C449880
T1 13-32 ChemicalEntity denotes N-acetylglucosamine http://purl.obolibrary.org/obo/CHEBI_28009|http://purl.obolibrary.org/obo/CHEBI_59640
T63529 1812-1830 GeneOrGeneProduct denotes host cell factor 1
T73459 1689-1707 GeneOrGeneProduct denotes host cell factor 1
T8 1668-1688 GeneOrGeneProduct denotes transcription factor
T86595 1270-1281 GeneOrGeneProduct denotes O-GlcNAcase
T57584 1070-1081 GeneOrGeneProduct denotes O-GlcNAcase
T96319 898-915 GeneOrGeneProduct denotes tetratricopeptide
T36257 310-328 GeneOrGeneProduct denotes cytosolic proteins
T64446 156-173 GeneOrGeneProduct denotes regulates protein
T2 138-149 GeneOrGeneProduct denotes transferase
T73273 44-55 GeneOrGeneProduct denotes transferase
T29918 1874-1878 DiseaseOrPhenotypicFeature denotes XLID DISEASE
T78269 1737-1741 DiseaseOrPhenotypicFeature denotes XLID DISEASE
T64172 742-746 DiseaseOrPhenotypicFeature denotes XLID DISEASE
T65871 717-740 DiseaseOrPhenotypicFeature denotes intellectual disability D008607
T48067 531-548 DiseaseOrPhenotypicFeature denotes neurodegeneration DISEASE
T49111 505-526 DiseaseOrPhenotypicFeature denotes developmental defects DISEASE
T24509 82-105 DiseaseOrPhenotypicFeature denotes intellectual disability D008607
T86704 1436-1443 OrganismTaxon denotes patient
T47099 1090-1097 OrganismTaxon denotes patient
T40375 629-635 OrganismTaxon denotes humans
T75412 59-67 OrganismTaxon denotes patients
T27185 1493-1504 SequenceVariant denotes p.Arg284Pro
T23405 1317-1327 SequenceVariant denotes c.463-6T>G
T69999 856-866 SequenceVariant denotes c.463-6T>G
T19525 796-807 SequenceVariant denotes p.Arg284Pro

sentences

Id Subject Object Predicate Lexical cue
T1 0-106 Sentence denotes Mutations in N-acetylglucosamine (O-GlcNAc) transferase in patients with X-linked intellectual disability.
T2 107-248 Sentence denotes N-Acetylglucosamine (O-GlcNAc) transferase (OGT) regulates protein O-GlcNAcylation, an essential and dynamic post-translational modification.
T3 249-423 Sentence denotes The O-GlcNAc modification is present on numerous nuclear and cytosolic proteins and has been implicated in essential cellular functions such as signaling and gene expression.
T4 424-549 Sentence denotes Accordingly, altered levels of protein O-GlcNAcylation have been associated with developmental defects and neurodegeneration.
T5 550-636 Sentence denotes However, mutations in the OGT gene have not yet been functionally confirmed in humans.
T6 637-868 Sentence denotes Here, we report on two hemizygous mutations in OGT in individuals with X-linked intellectual disability (XLID) and dysmorphic features: one missense mutation (p.Arg284Pro) and one mutation leading to a splicing defect (c.463-6T>G).
T7 869-976 Sentence denotes Both mutations reside in the tetratricopeptide repeats of OGT that are essential for substrate recognition.
T8 977-1172 Sentence denotes We observed slightly reduced levels of OGT protein and reduced levels of its opposing enzyme O-GlcNAcase in both patient-derived fibroblasts, but global O-GlcNAc levels appeared to be unaffected.
T9 1173-1293 Sentence denotes Our data suggest that mutant cells attempt to maintain global O-GlcNAcylation by down-regulating O-GlcNAcase expression.
T10 1294-1464 Sentence denotes We also found that the c.463-6T>G mutation leads to aberrant mRNA splicing, but no stable truncated protein was detected in the corresponding patient-derived fibroblasts.
T11 1465-1758 Sentence denotes Recombinant OGT bearing the p.Arg284Pro mutation was prone to unfolding and exhibited reduced glycosylation activity against a complex array of glycosylation substrates and proteolytic processing of the transcription factor host cell factor 1, which is also encoded by an XLID-associated gene.
T12 1759-1913 Sentence denotes We conclude that defects in O-GlcNAc homeostasis and host cell factor 1 proteolysis may play roles in mediation of XLID in individuals with OGT mutations.

GlyCosmos6-Glycan-Motif-Structure

Id Subject Object Predicate Lexical cue
T1 13-32 https://glytoucan.org/Structures/Glycans/G64581RP denotes N-acetylglucosamine
T2 34-42 https://glytoucan.org/Structures/Glycans/G49108TO denotes O-GlcNAc
T3 34-42 https://glytoucan.org/Structures/Glycans/G89565QL denotes O-GlcNAc
T4 107-126 https://glytoucan.org/Structures/Glycans/G64581RP denotes N-Acetylglucosamine
T5 128-136 https://glytoucan.org/Structures/Glycans/G49108TO denotes O-GlcNAc
T6 128-136 https://glytoucan.org/Structures/Glycans/G89565QL denotes O-GlcNAc
T7 253-261 https://glytoucan.org/Structures/Glycans/G49108TO denotes O-GlcNAc
T8 253-261 https://glytoucan.org/Structures/Glycans/G89565QL denotes O-GlcNAc
T9 1130-1138 https://glytoucan.org/Structures/Glycans/G49108TO denotes O-GlcNAc
T10 1130-1138 https://glytoucan.org/Structures/Glycans/G89565QL denotes O-GlcNAc
T11 1787-1795 https://glytoucan.org/Structures/Glycans/G49108TO denotes O-GlcNAc
T12 1787-1795 https://glytoucan.org/Structures/Glycans/G89565QL denotes O-GlcNAc

Glycosmos6-GlycoEpitope

Id Subject Object Predicate Lexical cue glyco_epitope_db_id
T1 34-42 GlycoEpitope denotes O-GlcNAc http://www.glycoepitope.jp/epitopes/EP0004
T2 128-136 GlycoEpitope denotes O-GlcNAc http://www.glycoepitope.jp/epitopes/EP0004
T3 253-261 GlycoEpitope denotes O-GlcNAc http://www.glycoepitope.jp/epitopes/EP0004
T4 1130-1138 GlycoEpitope denotes O-GlcNAc http://www.glycoepitope.jp/epitopes/EP0004
T5 1787-1795 GlycoEpitope denotes O-GlcNAc http://www.glycoepitope.jp/epitopes/EP0004

NGLY1-deficiency

Id Subject Object Predicate Lexical cue
PD-NGLY1-deficiency-B_T1 13-32 chem:24139 denotes N-acetylglucosamine
PD-NGLY1-deficiency-B_T2 36-42 chem:24139 denotes GlcNAc
PD-NGLY1-deficiency-B_T3 109-126 chem:24139 denotes Acetylglucosamine
PD-NGLY1-deficiency-B_T4 130-136 chem:24139 denotes GlcNAc
PD-NGLY1-deficiency-B_T5 255-261 chem:24139 denotes GlcNAc
PD-NGLY1-deficiency-B_T6 1132-1138 chem:24139 denotes GlcNAc
PD-NGLY1-deficiency-B_T7 1789-1795 chem:24139 denotes GlcNAc

GlyCosmos15-Glycan

Id Subject Object Predicate Lexical cue image
T1 34-42 Glycan denotes O-GlcNAc
T2 128-136 Glycan denotes O-GlcNAc
T3 253-261 Glycan denotes O-GlcNAc
T4 1130-1138 Glycan denotes O-GlcNAc
T5 1787-1795 Glycan denotes O-GlcNAc

HP-phenotype

Id Subject Object Predicate Lexical cue hp_id
T1 82-105 Phenotype denotes intellectual disability HP:0001249
T2 531-548 Phenotype denotes neurodegeneration HP:0002180
T3 717-740 Phenotype denotes intellectual disability HP:0001249

mondo_disease

Id Subject Object Predicate Lexical cue mondo_id
T1 82-105 Disease denotes intellectual disability http://purl.obolibrary.org/obo/MONDO_0001071
T2 717-740 Disease denotes intellectual disability http://purl.obolibrary.org/obo/MONDO_0001071

Glycan-GlyCosmos

Id Subject Object Predicate Lexical cue image
T1 34-42 Glycan denotes O-GlcNAc https://api.glycosmos.org/wurcs2image/latest/png/binary/G49108TO
T2 128-136 Glycan denotes O-GlcNAc https://api.glycosmos.org/wurcs2image/latest/png/binary/G49108TO
T3 253-261 Glycan denotes O-GlcNAc https://api.glycosmos.org/wurcs2image/latest/png/binary/G49108TO
T4 1130-1138 Glycan denotes O-GlcNAc https://api.glycosmos.org/wurcs2image/latest/png/binary/G49108TO
T5 1787-1795 Glycan denotes O-GlcNAc https://api.glycosmos.org/wurcs2image/latest/png/binary/G49108TO

GlyCosmos-GlycoEpitope

Id Subject Object Predicate Lexical cue glycoepitope_id
T1 34-42 http://purl.jp/bio/12/glyco/glycan#Glycan_epitope denotes O-GlcNAc http://www.glycoepitope.jp/epitopes/EP0004
T2 128-136 http://purl.jp/bio/12/glyco/glycan#Glycan_epitope denotes O-GlcNAc http://www.glycoepitope.jp/epitopes/EP0004
T3 253-261 http://purl.jp/bio/12/glyco/glycan#Glycan_epitope denotes O-GlcNAc http://www.glycoepitope.jp/epitopes/EP0004
T4 1130-1138 http://purl.jp/bio/12/glyco/glycan#Glycan_epitope denotes O-GlcNAc http://www.glycoepitope.jp/epitopes/EP0004
T5 1787-1795 http://purl.jp/bio/12/glyco/glycan#Glycan_epitope denotes O-GlcNAc http://www.glycoepitope.jp/epitopes/EP0004

GlyCosmos15-HP

Id Subject Object Predicate Lexical cue hp_id
T1 82-105 Phenotype denotes intellectual disability HP:0001249
T2 531-548 Phenotype denotes neurodegeneration HP:0002180
T3 717-740 Phenotype denotes intellectual disability HP:0001249

GlyCosmos15-CL

Id Subject Object Predicate Lexical cue cl_id
T1 1106-1117 Cell denotes fibroblasts http://purl.obolibrary.org/obo/CL:0000057
T2 1452-1463 Cell denotes fibroblasts http://purl.obolibrary.org/obo/CL:0000057

GlyCosmos15-UBERON

Id Subject Object Predicate Lexical cue uberon_id
T1 1106-1117 Body_part denotes fibroblasts http://purl.obolibrary.org/obo/CL_0000057
T2 1452-1463 Body_part denotes fibroblasts http://purl.obolibrary.org/obo/CL_0000057

GlyCosmos15-MONDO

Id Subject Object Predicate Lexical cue mondo_id
T1 73-105 Disease denotes X-linked intellectual disability MONDO:0100284
T2 708-740 Disease denotes X-linked intellectual disability MONDO:0100284
T3 742-746 Disease denotes XLID MONDO:0100284
T4 1737-1741 Disease denotes XLID MONDO:0100284
T5 1874-1878 Disease denotes XLID MONDO:0100284

GlyCosmos15-Sentences

Id Subject Object Predicate Lexical cue
T1 0-106 Sentence denotes Mutations in N-acetylglucosamine (O-GlcNAc) transferase in patients with X-linked intellectual disability.
T2 107-248 Sentence denotes N-Acetylglucosamine (O-GlcNAc) transferase (OGT) regulates protein O-GlcNAcylation, an essential and dynamic post-translational modification.
T3 249-423 Sentence denotes The O-GlcNAc modification is present on numerous nuclear and cytosolic proteins and has been implicated in essential cellular functions such as signaling and gene expression.
T4 424-549 Sentence denotes Accordingly, altered levels of protein O-GlcNAcylation have been associated with developmental defects and neurodegeneration.
T5 550-636 Sentence denotes However, mutations in the OGT gene have not yet been functionally confirmed in humans.
T6 637-868 Sentence denotes Here, we report on two hemizygous mutations in OGT in individuals with X-linked intellectual disability (XLID) and dysmorphic features: one missense mutation (p.Arg284Pro) and one mutation leading to a splicing defect (c.463-6T>G).
T7 869-976 Sentence denotes Both mutations reside in the tetratricopeptide repeats of OGT that are essential for substrate recognition.
T8 977-1172 Sentence denotes We observed slightly reduced levels of OGT protein and reduced levels of its opposing enzyme O-GlcNAcase in both patient-derived fibroblasts, but global O-GlcNAc levels appeared to be unaffected.
T9 1173-1293 Sentence denotes Our data suggest that mutant cells attempt to maintain global O-GlcNAcylation by down-regulating O-GlcNAcase expression.
T10 1294-1464 Sentence denotes We also found that the c.463-6T>G mutation leads to aberrant mRNA splicing, but no stable truncated protein was detected in the corresponding patient-derived fibroblasts.
T11 1465-1758 Sentence denotes Recombinant OGT bearing the p.Arg284Pro mutation was prone to unfolding and exhibited reduced glycosylation activity against a complex array of glycosylation substrates and proteolytic processing of the transcription factor host cell factor 1, which is also encoded by an XLID-associated gene.
T12 1759-1913 Sentence denotes We conclude that defects in O-GlcNAc homeostasis and host cell factor 1 proteolysis may play roles in mediation of XLID in individuals with OGT mutations.

GlyCosmos15-GlycoEpitope

Id Subject Object Predicate Lexical cue glycoepitope_id
T1 34-42 http://purl.jp/bio/12/glyco/glycan#Glycan_epitope denotes O-GlcNAc http://www.glycoepitope.jp/epitopes/EP0004
T2 128-136 http://purl.jp/bio/12/glyco/glycan#Glycan_epitope denotes O-GlcNAc http://www.glycoepitope.jp/epitopes/EP0004
T3 253-261 http://purl.jp/bio/12/glyco/glycan#Glycan_epitope denotes O-GlcNAc http://www.glycoepitope.jp/epitopes/EP0004
T4 1130-1138 http://purl.jp/bio/12/glyco/glycan#Glycan_epitope denotes O-GlcNAc http://www.glycoepitope.jp/epitopes/EP0004
T5 1787-1795 http://purl.jp/bio/12/glyco/glycan#Glycan_epitope denotes O-GlcNAc http://www.glycoepitope.jp/epitopes/EP0004

GlyCosmos15-NCBITAXON

Id Subject Object Predicate Lexical cue db_id
T1 1090-1097 OrganismTaxon denotes patient 9606
T2 1436-1443 OrganismTaxon denotes patient 9606

GlyCosmos15-FMA

Id Subject Object Predicate Lexical cue db_id
T1 310-319 Body_part denotes cytosolic FMA:66836
T2 1106-1117 Body_part denotes fibroblasts FMA:63877
T3 1452-1463 Body_part denotes fibroblasts FMA:63877

NCBITAXON

Id Subject Object Predicate Lexical cue db_id
T1 1090-1097 OrganismTaxon denotes patient 9606
T2 1436-1443 OrganismTaxon denotes patient 9606

Anatomy-UBERON

Id Subject Object Predicate Lexical cue uberon_id
T1 1106-1117 Body_part denotes fibroblasts http://purl.obolibrary.org/obo/CL_0000057
T2 1452-1463 Body_part denotes fibroblasts http://purl.obolibrary.org/obo/CL_0000057

CL-cell

Id Subject Object Predicate Lexical cue cl_id
T1 1106-1117 Cell denotes fibroblasts http://purl.obolibrary.org/obo/CL:0000057
T2 1452-1463 Cell denotes fibroblasts http://purl.obolibrary.org/obo/CL:0000057