PubMed:26251043
Annnotations
c_corpus
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 11-16 | PR:Q5S006 | denotes | LRRK2 |
| T2 | 11-16 | PR:000003033 | denotes | LRRK2 |
| T3 | 11-16 | PR:Q5S007 | denotes | LRRK2 |
| T4 | 46-61 | GO:0016301 | denotes | kinase activity |
| T6 | 137-140 | 318 | denotes | ATP |
| T5 | 137-140 | D000255 | denotes | ATP |
| T7 | 137-140 | CHEBI:30616 | denotes | ATP |
| T8 | 137-140 | D000255 | denotes | ATP |
| T9 | 137-140 | CHEBI:15422 | denotes | ATP |
| T15 | 137-144 | PR:000031171 | denotes | ATP13A2 |
| T16 | 137-144 | PR:Q9NQ11 | denotes | ATP13A2 |
| T17 | 137-144 | PR:Q9CTG6 | denotes | ATP13A2 |
| T18 | 207-219 | GO:0009405 | denotes | pathogenesis |
| T21 | 231-258 | D019636 | denotes | neurodegenerative disorders |
| T22 | 231-258 | D019636 | denotes | neurodegenerative disorders |
| T27 | 270-289 | D010300 | denotes | Parkinson's disease |
| T28 | 270-289 | D010300 | denotes | Parkinson's disease |
| T32 | 351-358 | 6308 | denotes | leucine |
| T33 | 351-358 | SO:0001437 | denotes | leucine |
| T31 | 351-358 | CHEBI:15603 | denotes | leucine |
| T34 | 351-358 | D007930 | denotes | leucine |
| T35 | 351-358 | CHEBI:25017 | denotes | leucine |
| T36 | 351-358 | D007930 | denotes | leucine |
| T37 | 364-370 | SO:0001068 | denotes | repeat |
| T38 | 381-386 | PR:Q5S006 | denotes | LRRK2 |
| T39 | 381-386 | PR:000003033 | denotes | LRRK2 |
| T40 | 381-386 | PR:Q5S007 | denotes | LRRK2 |
| T41 | 455-460 | PR:Q5S006 | denotes | LRRK2 |
| T42 | 455-460 | PR:000003033 | denotes | LRRK2 |
| T43 | 455-460 | PR:Q5S007 | denotes | LRRK2 |
| T44 | 490-508 | C566739 | denotes | autosomal-dominant |
| T45 | 625-630 | PR:Q5S006 | denotes | LRRK2 |
| T46 | 625-630 | PR:000003033 | denotes | LRRK2 |
| T47 | 625-630 | PR:Q5S007 | denotes | LRRK2 |
| T48 | 641-649 | GO:0005764 | denotes | lysosome |
| T49 | 733-738 | PR:Q5S006 | denotes | LRRK2 |
| T50 | 733-738 | PR:000003033 | denotes | LRRK2 |
| T51 | 733-738 | PR:Q5S007 | denotes | LRRK2 |
| T52 | 754-759 | PR:Q5S006 | denotes | LRRK2 |
| T53 | 754-759 | PR:000003033 | denotes | LRRK2 |
| T54 | 754-759 | PR:Q5S007 | denotes | LRRK2 |
| T55 | 797-805 | SO:0000109 | denotes | mutation |
| T56 | 968-973 | PR:Q5S006 | denotes | LRRK2 |
| T57 | 968-973 | PR:000003033 | denotes | LRRK2 |
| T58 | 968-973 | PR:Q5S007 | denotes | LRRK2 |
| T59 | 1043-1048 | PR:Q5S006 | denotes | LRRK2 |
| T60 | 1043-1048 | PR:000003033 | denotes | LRRK2 |
| T61 | 1043-1048 | PR:Q5S007 | denotes | LRRK2 |
| T62 | 1158-1176 | GO:0003824 | denotes | catalytic activity |
| T63 | 1218-1223 | PR:Q5S006 | denotes | LRRK2 |
| T64 | 1218-1223 | PR:000003033 | denotes | LRRK2 |
| T65 | 1218-1223 | PR:Q5S007 | denotes | LRRK2 |
| T68 | 1227-1233 | 9671 | denotes | serine |
| T70 | 1227-1233 | SO:0001444 | denotes | serine |
| T66 | 1227-1233 | D012694 | denotes | serine |
| T67 | 1227-1233 | CHEBI:17822 | denotes | serine |
| T69 | 1227-1233 | D012694 | denotes | serine |
| T71 | 1227-1233 | CHEBI:17115 | denotes | serine |
| T72 | 1278-1283 | PR:Q5S006 | denotes | LRRK2 |
| T73 | 1278-1283 | PR:000003033 | denotes | LRRK2 |
| T74 | 1278-1283 | PR:Q5S007 | denotes | LRRK2 |
| T75 | 1286-1301 | GO:0016301 | denotes | kinase activity |
| T76 | 1333-1342 | CHEBI:35222 | denotes | inhibitor |
| T77 | 1343-1354 | C000597233 | denotes | PF-06447475 |
| T78 | 1343-1354 | C000597233 | denotes | PF-06447475 |
| T79 | 1470-1478 | SO:0000109 | denotes | mutation |
| T81 | 1490-1499 | MOP:0000569 | denotes | reduction |
| T82 | 1558-1564 | A3DIJ8 | denotes | ATPase |
| T84 | 1558-1564 | Q9SIY3 | denotes | ATPase |
| T83 | 1558-1564 | D000251 | denotes | ATPase |
| T86 | 1565-1568 | 318 | denotes | ATP |
| T85 | 1565-1568 | D000255 | denotes | ATP |
| T87 | 1565-1568 | CHEBI:30616 | denotes | ATP |
| T88 | 1565-1568 | D000255 | denotes | ATP |
| T89 | 1565-1568 | CHEBI:15422 | denotes | ATP |
| T95 | 1565-1572 | PR:000031171 | denotes | ATP13A2 |
| T96 | 1565-1572 | PR:Q9NQ11 | denotes | ATP13A2 |
| T97 | 1565-1572 | PR:Q9CTG6 | denotes | ATP13A2 |
| T98 | 1576-1580 | SO:0000704 | denotes | gene |
| T100 | 1593-1614 | D020734 | denotes | parkinsonian syndrome |
| T101 | 1593-1614 | D020734 | denotes | parkinsonian syndrome |
| T102 | 1616-1636 | C537177 | denotes | Kufor-Rakeb syndrome |
| T103 | 1616-1636 | C537177 | denotes | Kufor-Rakeb syndrome |
| T104 | 1642-1647 | UBERON:6110636 | denotes | brain |
| T105 | 1642-1647 | UBERON:0000955 | denotes | brain |
| T106 | 1661-1666 | 10090 | denotes | mouse |
| T107 | 1661-1666 | D051379 | denotes | mouse |
| T108 | 1671-1676 | D006801 | denotes | human |
| T109 | 1677-1682 | PR:Q5S006 | denotes | LRRK2 |
| T110 | 1677-1682 | PR:000003033 | denotes | LRRK2 |
| T111 | 1677-1682 | PR:Q5S007 | denotes | LRRK2 |
| T112 | 1690-1698 | CHEBI:78059 | denotes | carriers |
| T113 | 1755-1760 | PR:Q5S006 | denotes | LRRK2 |
| T114 | 1755-1760 | PR:000003033 | denotes | LRRK2 |
| T115 | 1755-1760 | PR:Q5S007 | denotes | LRRK2 |
| T116 | 1779-1787 | GO:0005764 | denotes | lysosome |
| T117 | 1867-1872 | PR:Q5S006 | denotes | LRRK2 |
| T118 | 1867-1872 | PR:000003033 | denotes | LRRK2 |
| T119 | 1867-1872 | PR:Q5S007 | denotes | LRRK2 |
| T120 | 1880-1890 | CHEBI:35222 | denotes | inhibitors |
PubMed_ArguminSci
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| T1 | 157-295 | DRI_Challenge | denotes | Lysosomal dysfunction plays a central role in the pathogenesis of several neurodegenerative disorders, including Parkinson's disease (PD). |
| T2 | 296-435 | DRI_Background | denotes | Several genes linked to genetic forms of PD, including leucine-rich repeat kinase 2 (LRRK2), functionally converge on the lysosomal system. |
| T3 | 436-598 | DRI_Background | denotes | While mutations in LRRK2 are commonly associated with autosomal-dominant PD, the physiological and pathological functions of this kinase remain poorly understood. |
| T4 | 599-739 | DRI_Outcome | denotes | Here, we demonstrate that LRRK2 regulates lysosome size, number and function in astrocytes, which endogenously express high levels of LRRK2. |
| T5 | 740-753 | DRI_Challenge | denotes | Expression of |
| T6 | 766-888 | DRI_Challenge | denotes | , the most common pathological mutation, produces enlarged lysosomes and diminishes the lysosomal capacity of these cells. |
| T7 | 889-1077 | DRI_Background | denotes | Enlarged lysosomes appears to be a common phenotype associated with pathogenic LRRK2 mutations, as we also observed this effect in cells expressing other LRRK2 mutations; R1441C or Y1699C. |
| T8 | 1078-1239 | DRI_Challenge | denotes | The lysosomal defects associated with these mutations are dependent on both the catalytic activity of the kinase and autophosphorylation of LRRK2 at serine 1292. |
| T9 | 1240-1422 | DRI_Outcome | denotes | Further, we demonstrate that blocking LRRK2's kinase activity, with the potent and selective inhibitor PF-06447475, rescues the observed defects in lysosomal morphology and function. |
| T10 | 1423-1676 | DRI_Challenge | denotes | The present study also establishes that G2019S mutation leads to a reduction in lysosomal pH and increased expression of the lysosomal ATPase ATP13A2, a gene linked to a parkinsonian syndrome (Kufor-Rakeb syndrome), in brain samples from mouse and human |
| T11 | 1690-1699 | DRI_Challenge | denotes | carriers. |
| T12 | 1700-1740 | DRI_Outcome | denotes | Together, these results demonstrate that |
| T13 | 1761-1914 | DRI_Outcome | denotes | mutations perturb lysosome function in a kinase-dependent manner, highlighting the therapeutic promise of LRRK2 kinase inhibitors in the treatment of PD. |
DisGeNET5_variant_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 26251043-9#260#266#geners34637584 | 1683-1689 | geners34637584 | denotes | G2019S |
| 26251043-9#40#46#geners34637584 | 1463-1469 | geners34637584 | denotes | G2019S |
| 26251043-9#170#191#diseaseC0242422 | 1593-1614 | diseaseC0242422 | denotes | parkinsonian syndrome |
| 26251043-9#193#213#diseaseC1847640 | 1616-1636 | diseaseC1847640 | denotes | Kufor-Rakeb syndrome |
| 260#266#geners34637584170#191#diseaseC0242422 | 26251043-9#260#266#geners34637584 | 26251043-9#170#191#diseaseC0242422 | associated_with | G2019S,parkinsonian syndrome |
| 260#266#geners34637584193#213#diseaseC1847640 | 26251043-9#260#266#geners34637584 | 26251043-9#193#213#diseaseC1847640 | associated_with | G2019S,Kufor-Rakeb syndrome |
| 40#46#geners34637584170#191#diseaseC0242422 | 26251043-9#40#46#geners34637584 | 26251043-9#170#191#diseaseC0242422 | associated_with | G2019S,parkinsonian syndrome |
| 40#46#geners34637584193#213#diseaseC1847640 | 26251043-9#40#46#geners34637584 | 26251043-9#193#213#diseaseC1847640 | associated_with | G2019S,Kufor-Rakeb syndrome |
DisGeNET5_gene_disease
| Id | Subject | Object | Predicate | Lexical cue |
|---|---|---|---|---|
| 26251043-10#55#60#gene120892 | 1755-1760 | gene120892 | denotes | LRRK2 |
| 26251043-10#167#172#gene120892 | 1867-1872 | gene120892 | denotes | LRRK2 |
| 26251043-10#41#43#diseaseC0030567 | 1741-1743 | diseaseC0030567 | denotes | PD |
| 26251043-10#211#213#diseaseC0030567 | 1911-1913 | diseaseC0030567 | denotes | PD |
| 26251043-10#41#43#diseaseC0030567 | 1741-1743 | diseaseC0030567 | denotes | PD |
| 26251043-10#211#213#diseaseC0030567 | 1911-1913 | diseaseC0030567 | denotes | PD |
| 26251043-9#135#141#gene1769 | 1558-1564 | gene1769 | denotes | ATPase |
| 26251043-9#142#149#gene23400 | 1565-1572 | gene23400 | denotes | ATP13A2 |
| 26251043-9#254#259#gene120892 | 1677-1682 | gene120892 | denotes | LRRK2 |
| 26251043-9#170#191#diseaseC0242422 | 1593-1614 | diseaseC0242422 | denotes | parkinsonian syndrome |
| 26251043-9#193#213#diseaseC1847640 | 1616-1636 | diseaseC1847640 | denotes | Kufor-Rakeb syndrome |
| 26251043-9#170#191#diseaseC0242422 | 1593-1614 | diseaseC0242422 | denotes | parkinsonian syndrome |
| 26251043-9#193#213#diseaseC1847640 | 1616-1636 | diseaseC1847640 | denotes | Kufor-Rakeb syndrome |
| 55#60#gene12089241#43#diseaseC0030567 | 26251043-10#55#60#gene120892 | 26251043-10#41#43#diseaseC0030567 | associated_with | LRRK2,PD |
| 55#60#gene120892211#213#diseaseC0030567 | 26251043-10#55#60#gene120892 | 26251043-10#211#213#diseaseC0030567 | associated_with | LRRK2,PD |
| 55#60#gene12089241#43#diseaseC0030567 | 26251043-10#55#60#gene120892 | 26251043-10#41#43#diseaseC0030567 | associated_with | LRRK2,PD |
| 55#60#gene120892211#213#diseaseC0030567 | 26251043-10#55#60#gene120892 | 26251043-10#211#213#diseaseC0030567 | associated_with | LRRK2,PD |
| 167#172#gene12089241#43#diseaseC0030567 | 26251043-10#167#172#gene120892 | 26251043-10#41#43#diseaseC0030567 | associated_with | LRRK2,PD |
| 167#172#gene120892211#213#diseaseC0030567 | 26251043-10#167#172#gene120892 | 26251043-10#211#213#diseaseC0030567 | associated_with | LRRK2,PD |
| 167#172#gene12089241#43#diseaseC0030567 | 26251043-10#167#172#gene120892 | 26251043-10#41#43#diseaseC0030567 | associated_with | LRRK2,PD |
| 167#172#gene120892211#213#diseaseC0030567 | 26251043-10#167#172#gene120892 | 26251043-10#211#213#diseaseC0030567 | associated_with | LRRK2,PD |
| 135#141#gene1769170#191#diseaseC0242422 | 26251043-9#135#141#gene1769 | 26251043-9#170#191#diseaseC0242422 | associated_with | ATPase,parkinsonian syndrome |
| 135#141#gene1769193#213#diseaseC1847640 | 26251043-9#135#141#gene1769 | 26251043-9#193#213#diseaseC1847640 | associated_with | ATPase,Kufor-Rakeb syndrome |
| 135#141#gene1769170#191#diseaseC0242422 | 26251043-9#135#141#gene1769 | 26251043-9#170#191#diseaseC0242422 | associated_with | ATPase,parkinsonian syndrome |
| 135#141#gene1769193#213#diseaseC1847640 | 26251043-9#135#141#gene1769 | 26251043-9#193#213#diseaseC1847640 | associated_with | ATPase,Kufor-Rakeb syndrome |
| 142#149#gene23400170#191#diseaseC0242422 | 26251043-9#142#149#gene23400 | 26251043-9#170#191#diseaseC0242422 | associated_with | ATP13A2,parkinsonian syndrome |
| 142#149#gene23400193#213#diseaseC1847640 | 26251043-9#142#149#gene23400 | 26251043-9#193#213#diseaseC1847640 | associated_with | ATP13A2,Kufor-Rakeb syndrome |
| 142#149#gene23400170#191#diseaseC0242422 | 26251043-9#142#149#gene23400 | 26251043-9#170#191#diseaseC0242422 | associated_with | ATP13A2,parkinsonian syndrome |
| 142#149#gene23400193#213#diseaseC1847640 | 26251043-9#142#149#gene23400 | 26251043-9#193#213#diseaseC1847640 | associated_with | ATP13A2,Kufor-Rakeb syndrome |
| 254#259#gene120892170#191#diseaseC0242422 | 26251043-9#254#259#gene120892 | 26251043-9#170#191#diseaseC0242422 | associated_with | LRRK2,parkinsonian syndrome |
| 254#259#gene120892193#213#diseaseC1847640 | 26251043-9#254#259#gene120892 | 26251043-9#193#213#diseaseC1847640 | associated_with | LRRK2,Kufor-Rakeb syndrome |
| 254#259#gene120892170#191#diseaseC0242422 | 26251043-9#254#259#gene120892 | 26251043-9#170#191#diseaseC0242422 | associated_with | LRRK2,parkinsonian syndrome |
| 254#259#gene120892193#213#diseaseC1847640 | 26251043-9#254#259#gene120892 | 26251043-9#193#213#diseaseC1847640 | associated_with | LRRK2,Kufor-Rakeb syndrome |