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PubMed:17652097 JSONTXT

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PubTator4TogoVar

Id Subject Object Predicate Lexical cue proteinmutation
17652097_0 133-137 ProteinMutation denotes V70M rs1342971994
17652097_1 1707-1711 ProteinMutation denotes V70M rs1342971994

GlyCosmos6-Glycan-Motif-Image

Id Subject Object Predicate Lexical cue image
T1 932-935 Glycan_Motif denotes GM2 https://api.glycosmos.org/wurcs2image/0.10.0/png/binary/G79389NT|https://api.glycosmos.org/wurcs2image/0.10.0/png/binary/G61168WC

sentences

Id Subject Object Predicate Lexical cue
T1 0-98 Sentence denotes Enhanced lysosomal pathology caused by beta-synuclein mutants linked to dementia with Lewy bodies.
T2 99-256 Sentence denotes Two missense mutations (P123H and V70M) of beta-synuclein (beta-syn), the homologue of alpha-syn, have been recently identified in dementia with Lewy bodies.
T3 257-377 Sentence denotes However, the mechanism through which these mutations influence the pathogenesis of dementia with Lewy bodies is unclear.
T4 378-515 Sentence denotes To investigate the role of the beta-syn mutations in neurodegeneration, each mutant was stably transfected into B103 neuroblastoma cells.
T5 516-804 Sentence denotes Cells overexpressing mutated beta-syn had eosinophilic cytoplasmic inclusion bodies immunopositive for mutant beta-syn, and electron microscopy revealed that these cells were abundant in various cytoplasmic membranous inclusions resembling the histopathology of lysosomal storage disease.
T6 805-1002 Sentence denotes Consistent with these findings, the inclusion bodies were immunopositive for lysosomal markers, including cathepsin B, LAMP-2, GM2 ganglioside, and ATP13A2, which has recently been linked to PARK9.
T7 1003-1258 Sentence denotes Notably, formation of these lysosomal inclusions was greatly stimulated by co-expression of alpha-syn, was dependent on the phosphorylation of alpha-syn at Ser-129, and was more efficient with the A53T familial mutant of alpha-syn compared with wild type.
T8 1259-1602 Sentence denotes Furthermore, the inclusion formation in cells overexpressing mutant beta-syn and transfected with alpha-syn was significantly suppressed by treatment with autophagy-lysosomal inhibitors, which were associated with impaired clearance of syn proteins and enhanced apoptosis, indicating that formation of lysosomal inclusions might be protective.
T9 1603-1779 Sentence denotes Collectively, the results demonstrated unambiguously that overexpression of beta-syn mutants (P123H and V70M) in neuroblastoma cells results in an enhanced lysosomal pathology.
T10 1780-1894 Sentence denotes We suggest that these missense mutations of beta-syn might play a causative role in stimulating neurodegeneration.

GlyCosmos6-Glycan-Motif-Structure

Id Subject Object Predicate Lexical cue
T1 932-935 https://glytoucan.org/Structures/Glycans/G61168WC denotes GM2
T2 932-935 https://glytoucan.org/Structures/Glycans/G79389NT denotes GM2

DisGeNET

Id Subject Object Predicate Lexical cue
T0 39-53 gene:6620 denotes beta-synuclein
T1 72-97 disease:C0752347 denotes dementia with Lewy bodies
T2 142-156 gene:6620 denotes beta-synuclein
T3 230-255 disease:C0752347 denotes dementia with Lewy bodies
R1 T0 T1 associated_with beta-synuclein,dementia with Lewy bodies
R2 T2 T3 associated_with beta-synuclein,dementia with Lewy bodies

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 230-238 HP_0000726 denotes dementia
T2 244-255 HP_0100315 denotes Lewy bodies
T3 340-348 HP_0000726 denotes dementia
T4 354-365 HP_0100315 denotes Lewy bodies
T5 431-448 HP_0002180 denotes neurodegeneration
T6 495-508 HP_0003006 denotes neuroblastoma
T7 1716-1729 HP_0003006 denotes neuroblastoma
T1 230-238 HP_0000726 denotes dementia
T2 244-255 HP_0100315 denotes Lewy bodies
T3 340-348 HP_0000726 denotes dementia
T4 354-365 HP_0100315 denotes Lewy bodies
T5 431-448 HP_0002180 denotes neurodegeneration
T6 495-508 HP_0003006 denotes neuroblastoma
T7 1716-1729 HP_0003006 denotes neuroblastoma
T8 1876-1893 HP_0002180 denotes neurodegeneration
T8 1876-1893 HP_0002180 denotes neurodegeneration

DisGeNET5_variant_disease

Id Subject Object Predicate Lexical cue
17652097-1#34#38#geners569307763 133-137 geners569307763 denotes V70M
17652097-1#34#38#geners104893936 133-137 geners104893936 denotes V70M
17652097-1#24#29#geners104893937 123-128 geners104893937 denotes P123H
17652097-1#131#156#diseaseC0752347 230-255 diseaseC0752347 denotes dementia with Lewy bodies
17652097-8#94#99#geners104893937 1697-1702 geners104893937 denotes P123H
17652097-8#104#108#geners569307763 1707-1711 geners569307763 denotes V70M
17652097-8#104#108#geners104893936 1707-1711 geners104893936 denotes V70M
17652097-8#113#126#diseaseC0027819 1716-1729 diseaseC0027819 denotes neuroblastoma
17652097-8#113#126#diseaseC0700095 1716-1729 diseaseC0700095 denotes neuroblastoma
17652097-8#113#126#diseaseC0027819 1716-1729 diseaseC0027819 denotes neuroblastoma
17652097-8#113#126#diseaseC0700095 1716-1729 diseaseC0700095 denotes neuroblastoma
17652097-8#113#126#diseaseC0027819 1716-1729 diseaseC0027819 denotes neuroblastoma
17652097-8#113#126#diseaseC0700095 1716-1729 diseaseC0700095 denotes neuroblastoma
34#38#geners569307763131#156#diseaseC0752347 17652097-1#34#38#geners569307763 17652097-1#131#156#diseaseC0752347 associated_with V70M,dementia with Lewy bodies
34#38#geners104893936131#156#diseaseC0752347 17652097-1#34#38#geners104893936 17652097-1#131#156#diseaseC0752347 associated_with V70M,dementia with Lewy bodies
24#29#geners104893937131#156#diseaseC0752347 17652097-1#24#29#geners104893937 17652097-1#131#156#diseaseC0752347 associated_with P123H,dementia with Lewy bodies
94#99#geners104893937113#126#diseaseC0027819 17652097-8#94#99#geners104893937 17652097-8#113#126#diseaseC0027819 associated_with P123H,neuroblastoma
94#99#geners104893937113#126#diseaseC0700095 17652097-8#94#99#geners104893937 17652097-8#113#126#diseaseC0700095 associated_with P123H,neuroblastoma
94#99#geners104893937113#126#diseaseC0027819 17652097-8#94#99#geners104893937 17652097-8#113#126#diseaseC0027819 associated_with P123H,neuroblastoma
94#99#geners104893937113#126#diseaseC0700095 17652097-8#94#99#geners104893937 17652097-8#113#126#diseaseC0700095 associated_with P123H,neuroblastoma
94#99#geners104893937113#126#diseaseC0027819 17652097-8#94#99#geners104893937 17652097-8#113#126#diseaseC0027819 associated_with P123H,neuroblastoma
94#99#geners104893937113#126#diseaseC0700095 17652097-8#94#99#geners104893937 17652097-8#113#126#diseaseC0700095 associated_with P123H,neuroblastoma
104#108#geners569307763113#126#diseaseC0027819 17652097-8#104#108#geners569307763 17652097-8#113#126#diseaseC0027819 associated_with V70M,neuroblastoma
104#108#geners569307763113#126#diseaseC0700095 17652097-8#104#108#geners569307763 17652097-8#113#126#diseaseC0700095 associated_with V70M,neuroblastoma
104#108#geners569307763113#126#diseaseC0027819 17652097-8#104#108#geners569307763 17652097-8#113#126#diseaseC0027819 associated_with V70M,neuroblastoma
104#108#geners569307763113#126#diseaseC0700095 17652097-8#104#108#geners569307763 17652097-8#113#126#diseaseC0700095 associated_with V70M,neuroblastoma
104#108#geners569307763113#126#diseaseC0027819 17652097-8#104#108#geners569307763 17652097-8#113#126#diseaseC0027819 associated_with V70M,neuroblastoma
104#108#geners569307763113#126#diseaseC0700095 17652097-8#104#108#geners569307763 17652097-8#113#126#diseaseC0700095 associated_with V70M,neuroblastoma
104#108#geners104893936113#126#diseaseC0027819 17652097-8#104#108#geners104893936 17652097-8#113#126#diseaseC0027819 associated_with V70M,neuroblastoma
104#108#geners104893936113#126#diseaseC0700095 17652097-8#104#108#geners104893936 17652097-8#113#126#diseaseC0700095 associated_with V70M,neuroblastoma
104#108#geners104893936113#126#diseaseC0027819 17652097-8#104#108#geners104893936 17652097-8#113#126#diseaseC0027819 associated_with V70M,neuroblastoma
104#108#geners104893936113#126#diseaseC0700095 17652097-8#104#108#geners104893936 17652097-8#113#126#diseaseC0700095 associated_with V70M,neuroblastoma
104#108#geners104893936113#126#diseaseC0027819 17652097-8#104#108#geners104893936 17652097-8#113#126#diseaseC0027819 associated_with V70M,neuroblastoma
104#108#geners104893936113#126#diseaseC0700095 17652097-8#104#108#geners104893936 17652097-8#113#126#diseaseC0700095 associated_with V70M,neuroblastoma

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
17652097-0#39#53#gene6620 39-53 gene6620 denotes beta-synuclein
17652097-0#72#97#diseaseC0752347 72-97 diseaseC0752347 denotes dementia with Lewy bodies
39#53#gene662072#97#diseaseC0752347 17652097-0#39#53#gene6620 17652097-0#72#97#diseaseC0752347 associated_with beta-synuclein,dementia with Lewy bodies

HP-phenotype

Id Subject Object Predicate Lexical cue hp_id
T1 72-80 Phenotype denotes dementia HP:0000726
T2 86-97 Phenotype denotes Lewy bodies HP:0100315
T3 230-238 Phenotype denotes dementia HP:0000726
T4 244-255 Phenotype denotes Lewy bodies HP:0100315
T5 340-348 Phenotype denotes dementia HP:0000726
T6 354-365 Phenotype denotes Lewy bodies HP:0100315
T7 431-448 Phenotype denotes neurodegeneration HP:0002180
T8 495-508 Phenotype denotes neuroblastoma HP:0003006
T9 1716-1729 Phenotype denotes neuroblastoma HP:0003006
T10 1876-1893 Phenotype denotes neurodegeneration HP:0002180

mondo_disease

Id Subject Object Predicate Lexical cue mondo_id
T1 72-97 Disease denotes dementia with Lewy bodies http://purl.obolibrary.org/obo/MONDO_0007488
T2 230-255 Disease denotes dementia with Lewy bodies http://purl.obolibrary.org/obo/MONDO_0007488
T3 340-365 Disease denotes dementia with Lewy bodies http://purl.obolibrary.org/obo/MONDO_0007488
T4 495-508 Disease denotes neuroblastoma http://purl.obolibrary.org/obo/MONDO_0005072
T5 778-803 Disease denotes lysosomal storage disease http://purl.obolibrary.org/obo/MONDO_0002561
T6 996-1001 Disease denotes PARK9 http://purl.obolibrary.org/obo/MONDO_0011706
T7 1716-1729 Disease denotes neuroblastoma http://purl.obolibrary.org/obo/MONDO_0005072

Glycan-GlyCosmos

Id Subject Object Predicate Lexical cue image
T1 932-935 Glycan denotes GM2 https://api.glycosmos.org/wurcs2image/latest/png/binary/G79389NT

GlyCosmos15-HP

Id Subject Object Predicate Lexical cue hp_id
T1 72-80 Phenotype denotes dementia HP:0000726
T2 86-97 Phenotype denotes Lewy bodies HP:0100315
T3 230-238 Phenotype denotes dementia HP:0000726
T4 244-255 Phenotype denotes Lewy bodies HP:0100315
T5 340-348 Phenotype denotes dementia HP:0000726
T6 354-365 Phenotype denotes Lewy bodies HP:0100315
T7 431-448 Phenotype denotes neurodegeneration HP:0002180
T8 495-508 Phenotype denotes neuroblastoma HP:0003006
T9 1716-1729 Phenotype denotes neuroblastoma HP:0003006
T10 1876-1893 Phenotype denotes neurodegeneration HP:0002180

GlyCosmos15-MONDO

Id Subject Object Predicate Lexical cue mondo_id
T1 72-97 Disease denotes dementia with Lewy bodies http://purl.obolibrary.org/obo/MONDO_0007488
T2 230-255 Disease denotes dementia with Lewy bodies http://purl.obolibrary.org/obo/MONDO_0007488
T3 340-365 Disease denotes dementia with Lewy bodies http://purl.obolibrary.org/obo/MONDO_0007488
T4 495-508 Disease denotes neuroblastoma http://purl.obolibrary.org/obo/MONDO_0005072
T5 778-803 Disease denotes lysosomal storage disease http://purl.obolibrary.org/obo/MONDO_0002561
T6 996-1001 Disease denotes PARK9 http://purl.obolibrary.org/obo/MONDO_0011706
T7 1716-1729 Disease denotes neuroblastoma http://purl.obolibrary.org/obo/MONDO_0005072

GlyCosmos15-CL

Id Subject Object Predicate Lexical cue cl_id
T1 558-570 Cell denotes eosinophilic http://purl.obolibrary.org/obo/CL:0000771

GlyCosmos15-UBERON

Id Subject Object Predicate Lexical cue uberon_id
T1 558-570 Body_part denotes eosinophilic http://purl.obolibrary.org/obo/CL_0017502
T2 571-582 Body_part denotes cytoplasmic http://purl.obolibrary.org/obo/GO_0005737
T3 711-733 Body_part denotes cytoplasmic membranous http://purl.obolibrary.org/obo/GO_0005886

sentences

Id Subject Object Predicate Lexical cue
T1 0-98 Sentence denotes Enhanced lysosomal pathology caused by beta-synuclein mutants linked to dementia with Lewy bodies.
T2 99-256 Sentence denotes Two missense mutations (P123H and V70M) of beta-synuclein (beta-syn), the homologue of alpha-syn, have been recently identified in dementia with Lewy bodies.
T3 257-377 Sentence denotes However, the mechanism through which these mutations influence the pathogenesis of dementia with Lewy bodies is unclear.
T4 378-515 Sentence denotes To investigate the role of the beta-syn mutations in neurodegeneration, each mutant was stably transfected into B103 neuroblastoma cells.
T5 516-804 Sentence denotes Cells overexpressing mutated beta-syn had eosinophilic cytoplasmic inclusion bodies immunopositive for mutant beta-syn, and electron microscopy revealed that these cells were abundant in various cytoplasmic membranous inclusions resembling the histopathology of lysosomal storage disease.
T6 805-1002 Sentence denotes Consistent with these findings, the inclusion bodies were immunopositive for lysosomal markers, including cathepsin B, LAMP-2, GM2 ganglioside, and ATP13A2, which has recently been linked to PARK9.
T7 1003-1258 Sentence denotes Notably, formation of these lysosomal inclusions was greatly stimulated by co-expression of alpha-syn, was dependent on the phosphorylation of alpha-syn at Ser-129, and was more efficient with the A53T familial mutant of alpha-syn compared with wild type.
T8 1259-1602 Sentence denotes Furthermore, the inclusion formation in cells overexpressing mutant beta-syn and transfected with alpha-syn was significantly suppressed by treatment with autophagy-lysosomal inhibitors, which were associated with impaired clearance of syn proteins and enhanced apoptosis, indicating that formation of lysosomal inclusions might be protective.
T9 1603-1779 Sentence denotes Collectively, the results demonstrated unambiguously that overexpression of beta-syn mutants (P123H and V70M) in neuroblastoma cells results in an enhanced lysosomal pathology.
T10 1780-1894 Sentence denotes We suggest that these missense mutations of beta-syn might play a causative role in stimulating neurodegeneration.

GlyCosmos15-Sentences

Id Subject Object Predicate Lexical cue
T1 0-98 Sentence denotes Enhanced lysosomal pathology caused by beta-synuclein mutants linked to dementia with Lewy bodies.
T2 99-256 Sentence denotes Two missense mutations (P123H and V70M) of beta-synuclein (beta-syn), the homologue of alpha-syn, have been recently identified in dementia with Lewy bodies.
T3 257-377 Sentence denotes However, the mechanism through which these mutations influence the pathogenesis of dementia with Lewy bodies is unclear.
T4 378-515 Sentence denotes To investigate the role of the beta-syn mutations in neurodegeneration, each mutant was stably transfected into B103 neuroblastoma cells.
T5 516-804 Sentence denotes Cells overexpressing mutated beta-syn had eosinophilic cytoplasmic inclusion bodies immunopositive for mutant beta-syn, and electron microscopy revealed that these cells were abundant in various cytoplasmic membranous inclusions resembling the histopathology of lysosomal storage disease.
T6 805-1002 Sentence denotes Consistent with these findings, the inclusion bodies were immunopositive for lysosomal markers, including cathepsin B, LAMP-2, GM2 ganglioside, and ATP13A2, which has recently been linked to PARK9.
T7 1003-1258 Sentence denotes Notably, formation of these lysosomal inclusions was greatly stimulated by co-expression of alpha-syn, was dependent on the phosphorylation of alpha-syn at Ser-129, and was more efficient with the A53T familial mutant of alpha-syn compared with wild type.
T8 1259-1602 Sentence denotes Furthermore, the inclusion formation in cells overexpressing mutant beta-syn and transfected with alpha-syn was significantly suppressed by treatment with autophagy-lysosomal inhibitors, which were associated with impaired clearance of syn proteins and enhanced apoptosis, indicating that formation of lysosomal inclusions might be protective.
T9 1603-1779 Sentence denotes Collectively, the results demonstrated unambiguously that overexpression of beta-syn mutants (P123H and V70M) in neuroblastoma cells results in an enhanced lysosomal pathology.
T10 1780-1894 Sentence denotes We suggest that these missense mutations of beta-syn might play a causative role in stimulating neurodegeneration.

GlyCosmos15-Glycan

Id Subject Object Predicate Lexical cue image
T1 932-935 Glycan denotes GM2 https://api.glycosmos.org/wurcs2image/latest/png/binary/G79389NT

Anatomy-UBERON

Id Subject Object Predicate Lexical cue uberon_id
T1 558-570 Body_part denotes eosinophilic http://purl.obolibrary.org/obo/CL_0017502
T2 571-582 Body_part denotes cytoplasmic http://purl.obolibrary.org/obo/GO_0005737
T3 711-733 Body_part denotes cytoplasmic membranous http://purl.obolibrary.org/obo/GO_0005886

CL-cell

Id Subject Object Predicate Lexical cue cl_id
T1 558-570 Cell denotes eosinophilic http://purl.obolibrary.org/obo/CL:0000771