PubMed:17652097
Annnotations
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 |