PubMed:16269541
Annnotations
PubTator4TogoVar
Id | Subject | Object | Predicate | Lexical cue | proteinmutation |
---|---|---|---|---|---|
16269541_0 | 734-740 | ProteinMutation | denotes | G2019S | rs34637584 |
16269541_1 | 744-750 | ProteinMutation | denotes | R1441C | rs33939927 |
c_corpus
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T5 | 0-19 | D010300 | denotes | Parkinson's disease |
T6 | 0-19 | D010300 | denotes | Parkinson's disease |
T10 | 44-51 | 6308 | denotes | leucine |
T11 | 44-51 | SO:0001437 | denotes | leucine |
T9 | 44-51 | CHEBI:15603 | denotes | leucine |
T12 | 44-51 | D007930 | denotes | leucine |
T13 | 44-51 | CHEBI:25017 | denotes | leucine |
T14 | 44-51 | D007930 | denotes | leucine |
T15 | 57-63 | SO:0001068 | denotes | repeat |
T16 | 81-96 | GO:0016301 | denotes | kinase activity |
T18 | 115-122 | 6308 | denotes | leucine |
T19 | 115-122 | SO:0001437 | denotes | leucine |
T17 | 115-122 | CHEBI:15603 | denotes | leucine |
T20 | 115-122 | D007930 | denotes | leucine |
T21 | 115-122 | CHEBI:25017 | denotes | leucine |
T22 | 115-122 | D007930 | denotes | leucine |
T23 | 128-134 | SO:0001068 | denotes | repeat |
T24 | 144-148 | SO:0000704 | denotes | gene |
T25 | 150-155 | PR:Q5S006 | denotes | LRRK2 |
T26 | 150-155 | PR:000003033 | denotes | LRRK2 |
T27 | 150-155 | PR:Q5S007 | denotes | LRRK2 |
T28 | 163-173 | D000067562 | denotes | late-onset |
T29 | 163-173 | D000067562 | denotes | late-onset |
T34 | 174-193 | D010300 | denotes | Parkinson's disease |
T35 | 174-193 | D010300 | denotes | Parkinson's disease |
T38 | 293-298 | PR:Q5S006 | denotes | LRRK2 |
T39 | 293-298 | PR:000003033 | denotes | LRRK2 |
T40 | 293-298 | PR:Q5S007 | denotes | LRRK2 |
T41 | 362-376 | D004198 | denotes | susceptibility |
T42 | 362-376 | D004198 | denotes | susceptibility |
T43 | 396-414 | C566739 | denotes | autosomal-dominant |
T44 | 464-469 | PR:Q5S006 | denotes | LRRK2 |
T45 | 464-469 | PR:000003033 | denotes | LRRK2 |
T46 | 464-469 | PR:Q5S007 | denotes | LRRK2 |
T47 | 470-474 | SO:0000704 | denotes | gene |
T48 | 479-489 | SO:0000673 | denotes | transcript |
T49 | 493-498 | D006801 | denotes | human |
T50 | 499-504 | UBERON:6110636 | denotes | brain |
T51 | 499-504 | UBERON:0000955 | denotes | brain |
T52 | 534-537 | P0A2W4 | denotes | ORF |
T54 | 534-537 | PR:P16320 | denotes | ORF |
T53 | 534-537 | SO:0000236 | denotes | ORF |
T55 | 561-566 | PR:Q5S006 | denotes | LRRK2 |
T56 | 561-566 | PR:000003033 | denotes | LRRK2 |
T57 | 561-566 | PR:Q5S007 | denotes | LRRK2 |
T58 | 561-574 | D000071158 | denotes | LRRK2 protein |
T62 | 567-574 | PR:000000001 | denotes | protein |
T59 | 567-574 | GO:0003675 | denotes | protein |
T63 | 567-574 | SO:0000104 | denotes | protein |
T64 | 639-648 | GO:0005737 | denotes | cytoplasm |
T65 | 678-706 | GO:0005741 | denotes | mitochondrial outer membrane |
T67 | 698-706 | UBERON:0000094 | denotes | membrane |
T69 | 698-706 | UBERON:0000158 | denotes | membrane |
T73 | 784-791 | PR:000000001 | denotes | protein |
T71 | 784-791 | CHEBI:36080 | denotes | protein |
T72 | 784-791 | CHEBI:11122 | denotes | protein |
T74 | 784-791 | SO:0000104 | denotes | protein |
T70 | 784-791 | GO:0003675 | denotes | protein |
T75 | 826-838 | GO:0051179 | denotes | localization |
T76 | 902-907 | PR:Q5S006 | denotes | LRRK2 |
T77 | 902-907 | PR:000003033 | denotes | LRRK2 |
T78 | 902-907 | PR:Q5S007 | denotes | LRRK2 |
T79 | 1011-1026 | GO:0016310 | denotes | phosphorylation |
T80 | 1075-1079 | SO:0001742 | denotes | gain |
T81 | 1106-1111 | PR:Q5S006 | denotes | LRRK2 |
T82 | 1106-1111 | PR:000003033 | denotes | LRRK2 |
T83 | 1106-1111 | PR:Q5S007 | denotes | LRRK2 |
T84 | 1119-1126 | D004194 | denotes | disease |
T85 | 1119-1126 | D004194 | denotes | disease |
T86 | 1151-1166 | GO:0016301 | denotes | kinase activity |
UseCases_ArguminSci_Discourse
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
T1 | 0-97 | DRI_Background | denotes | Parkinson's disease-associated mutations in leucine-rich repeat kinase 2 augment kinase activity. |
T2 | 98-263 | DRI_Outcome | denotes | Mutations in the leucine-rich repeat kinase 2 gene (LRRK2) cause late-onset Parkinson's disease (PD) with a clinical appearance indistinguishable from idiopathic PD. |
T3 | 264-435 | DRI_Background | denotes | Initial studies suggest that LRRK2 mutations are the most common yet identified determinant of PD susceptibility, transmitted in an autosomal-dominant mode of inheritance. |
T4 | 436-538 | DRI_Approach | denotes | Herein, we characterize the LRRK2 gene and transcript in human brain and subclone the predominant ORF. |
T5 | 539-707 | DRI_Background | denotes | Exogenously expressed LRRK2 protein migrates at approximately 280 kDa and is present largely in the cytoplasm but also associates with the mitochondrial outer membrane. |
T6 | 708-839 | DRI_Approach | denotes | Familial-linked mutations G2019S or R1441C do not have an obvious effect on protein steady-state levels, turnover, or localization. |
T7 | 840-1050 | DRI_Background | denotes | However, in vitro kinase assays using full-length recombinant LRRK2 reveal an increase in activity caused by familial-linked mutations in both autophosphorylation and the phosphorylation of a generic substrate. |
T8 | 1051-1192 | DRI_Challenge | denotes | These results suggest a gain-of-function mechanism for LRRK2-linked disease with a central role for kinase activity in the development of PD. |
DisGeNET5_gene_disease
Id | Subject | Object | Predicate | Lexical cue |
---|---|---|---|---|
16269541-0#44#72#gene120892 | 44-72 | gene120892 | denotes | leucine-rich repeat kinase 2 |
16269541-0#0#19#diseaseC0030567 | 0-19 | diseaseC0030567 | denotes | Parkinson's disease |
16269541-7#55#60#gene120892 | 1106-1111 | gene120892 | denotes | LRRK2 |
16269541-7#138#140#diseaseC3160718 | 1189-1191 | diseaseC3160718 | denotes | PD |
44#72#gene1208920#19#diseaseC0030567 | 16269541-0#44#72#gene120892 | 16269541-0#0#19#diseaseC0030567 | associated_with | leucine-rich repeat kinase 2,Parkinson's disease |
55#60#gene120892138#140#diseaseC3160718 | 16269541-7#55#60#gene120892 | 16269541-7#138#140#diseaseC3160718 | associated_with | LRRK2,PD |