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PubMed_Structured_Abstracts

Id Subject Object Predicate Lexical cue
T1 84-618 BACKGROUND denotes Friedreich ataxia (FRDA), the most common autosomal recessive ataxia disorder, is caused by a dynamic GAA repeat expansion mutation within intron 1 of FXN gene, resulting in down-regulation of frataxin expression. Studies of cell and mouse models have revealed a role for the mismatch repair (MMR) MutS-heterodimer complexes and the PMS2 component of the MutLα complex in the dynamics of intergenerational and somatic GAA repeat expansions: MSH2, MSH3 and MSH6 promote GAA repeat expansions, while PMS2 inhibits GAA repeat expansions.
T2 651-1224 RESULTS denotes To determine the potential role of the other component of the MutLα complex, MLH1, in GAA repeat instability in FRDA, we have analyzed intergenerational and somatic GAA repeat expansions from FXN transgenic mice that have been crossed with Mlh1 deficient mice. We find that loss of Mlh1 activity reduces both intergenerational and somatic GAA repeat expansions. However, we also find that loss of either Mlh1 or Pms2 reduces FXN transcription, suggesting different mechanisms of action for Mlh1 and Pms2 on GAA repeat expansion dynamics and regulation of FXN transcription.
T3 1251-1474 CONCLUSIONS denotes Both MutLα components, PMS2 and MLH1, have now been shown to modify the molecular phenotype of FRDA. We propose that upregulation of MLH1 or PMS2 could be potential FRDA therapeutic approaches to increase FXN transcription.

c_corpus

Id Subject Object Predicate Lexical cue
T1 0-4 PR:000023324 denotes MutL
T2 0-4 PR:Q93T05 denotes MutL
T3 0-4 PR:P23367 denotes MutL
T6 53-70 D005621 denotes Friedreich ataxia
T7 53-70 D005621 denotes Friedreich ataxia
T8 53-70 C565561 denotes Friedreich ataxia
T13 84-101 D005621 denotes Friedreich ataxia
T14 84-101 D005621 denotes Friedreich ataxia
T15 84-101 C565561 denotes Friedreich ataxia
T19 103-107 PR:000007710 denotes FRDA
T20 103-107 PR:000022686 denotes FRDA
T21 103-107 PR:P00363 denotes FRDA
T22 103-107 PR:Q16595 denotes FRDA
T23 103-107 PR:O35943 denotes FRDA
T18 103-107 C565561 denotes FRDA
T24 146-152 D001259 denotes ataxia
T25 146-152 D001259 denotes ataxia
T26 186-189 PR:Q6P7A9 denotes GAA
T27 186-189 PR:000007752 denotes GAA
T28 186-189 PR:P10253 denotes GAA
T29 186-189 PR:P70699 denotes GAA
T31 186-189 PR:Q9MYM4 denotes GAA
T30 186-189 CHEBI:144460 denotes GAA
T32 190-196 SO:0001068 denotes repeat
T33 207-215 SO:0000109 denotes mutation
T34 223-229 SO:0000188 denotes intron
T35 223-229 SO:0001627 denotes intron
T36 235-238 PR:000007710 denotes FXN
T37 235-238 Q8HXX9 denotes FXN
T38 235-238 Q9TY03 denotes FXN
T39 235-238 Q05B87 denotes FXN
T40 235-238 PR:D3ZYW7 denotes FXN
T41 235-238 Q54C45 denotes FXN
T42 235-238 D3ZYW7 denotes FXN
T43 235-238 Q9ZR07 denotes FXN
T44 235-238 B0YLW8 denotes FXN
T45 235-238 O35943 denotes FXN
T46 235-238 Q16595 denotes FXN
T47 235-238 PR:Q54C45 denotes FXN
T48 235-238 PR:Q16595 denotes FXN
T49 235-238 PR:O35943 denotes FXN
T50 235-238 Q8SWI3 denotes FXN
T51 239-243 SO:0000704 denotes gene
T52 263-273 GO:0065007 denotes regulation
T53 277-285 B0YLW8 denotes frataxin
T54 277-285 C098527 denotes frataxin
T55 277-285 C098527 denotes frataxin
T56 318-323 10090 denotes mouse
T57 318-323 D051379 denotes mouse
T58 360-375 GO:0006298 denotes mismatch repair
T59 377-380 GO:0006298 denotes MMR
T60 377-380 CVCL_E779 denotes MMR
T61 377-380 P22897 denotes MMR
T62 377-380 PR:000002972 denotes MMR
T63 377-380 Q61830 denotes MMR
T64 382-386 PR:000023326 denotes MutS
T65 382-386 PR:P23909 denotes MutS
T66 382-386 PR:Q2FYZ9 denotes MutS
T67 417-420 CHEBI:53396 denotes PMS
T70 417-420 CHEBI:53430 denotes PMS
T72 417-420 CHEBI:8055 denotes PMS
T73 417-421 PR:P54279 denotes PMS2
T74 417-421 PR:F1NQJ3 denotes PMS2
T75 417-421 PR:P38920 denotes PMS2
T76 417-421 PR:000012914 denotes PMS2
T77 417-421 PR:P54278 denotes PMS2
T78 439-443 PR:000023324 denotes MutL
T79 439-443 PR:Q93T05 denotes MutL
T80 439-443 PR:P23367 denotes MutL
T81 502-505 PR:Q6P7A9 denotes GAA
T82 502-505 PR:000007752 denotes GAA
T83 502-505 PR:P10253 denotes GAA
T84 502-505 PR:P70699 denotes GAA
T86 502-505 PR:Q9MYM4 denotes GAA
T85 502-505 CHEBI:144460 denotes GAA
T87 506-512 SO:0001068 denotes repeat
T89 525-528 CHEBI:16768 denotes MSH
T93 525-528 D009074 denotes MSH
T94 525-528 D009074 denotes MSH
T95 525-529 PR:000010666 denotes MSH2
T96 525-529 PR:P25847 denotes MSH2
T97 525-529 PR:P43246 denotes MSH2
T98 525-529 P22711 denotes MSH2
T99 525-529 PR:P22711 denotes MSH2
T100 525-529 PR:P54275 denotes MSH2
T101 525-529 PR:O74773 denotes MSH2
T102 525-529 PR:P43247 denotes MSH2
T103 525-529 PR:Q553L4 denotes MSH2
T104 525-529 PR:O24617 denotes MSH2
T106 531-534 CHEBI:16768 denotes MSH
T110 531-534 D009074 denotes MSH
T111 531-534 D009074 denotes MSH
T112 531-535 PR:O65607 denotes MSH3
T113 531-535 PR:000010667 denotes MSH3
T114 531-535 PR:Q59Y41 denotes MSH3
T115 531-535 PR:P25336 denotes MSH3
T116 531-535 PR:P20585 denotes MSH3
T117 531-535 PR:P26359 denotes MSH3
T118 531-535 PR:P13705 denotes MSH3
T119 531-535 PR:Q1ZXH0 denotes MSH3
T121 540-543 CHEBI:16768 denotes MSH
T125 540-543 D009074 denotes MSH
T126 540-543 D009074 denotes MSH
T127 540-544 PR:P52701 denotes MSH6
T128 540-544 PR:P54276 denotes MSH6
T129 540-544 PR:Q9VUM0 denotes MSH6
T130 540-544 PR:Q55GU9 denotes MSH6
T131 540-544 PR:O04716 denotes MSH6
T132 540-544 PR:Q03834 denotes MSH6
T133 540-544 PR:O74502 denotes MSH6
T134 540-544 PR:000010670 denotes MSH6
T135 553-556 PR:Q6P7A9 denotes GAA
T136 553-556 PR:000007752 denotes GAA
T137 553-556 PR:P10253 denotes GAA
T138 553-556 PR:P70699 denotes GAA
T140 553-556 PR:Q9MYM4 denotes GAA
T139 553-556 CHEBI:144460 denotes GAA
T141 557-563 SO:0001068 denotes repeat
T142 582-585 CHEBI:53396 denotes PMS
T145 582-585 CHEBI:53430 denotes PMS
T147 582-585 CHEBI:8055 denotes PMS
T148 582-586 PR:P54279 denotes PMS2
T149 582-586 PR:F1NQJ3 denotes PMS2
T150 582-586 PR:P38920 denotes PMS2
T151 582-586 PR:000012914 denotes PMS2
T152 582-586 PR:P54278 denotes PMS2
T153 596-599 PR:Q6P7A9 denotes GAA
T154 596-599 PR:000007752 denotes GAA
T155 596-599 PR:P10253 denotes GAA
T156 596-599 PR:P70699 denotes GAA
T158 596-599 PR:Q9MYM4 denotes GAA
T157 596-599 CHEBI:144460 denotes GAA
T159 600-606 SO:0001068 denotes repeat
T160 713-717 PR:000023324 denotes MutL
T161 713-717 PR:Q93T05 denotes MutL
T162 713-717 PR:P23367 denotes MutL
T166 728-732 CVCL_G669 denotes MLH1
T163 728-732 PR:Q9ZRV4 denotes MLH1
T164 728-732 PR:P38920 denotes MLH1
T165 728-732 PR:Q54KD8 denotes MLH1
T167 728-732 PR:Q9JK91 denotes MLH1
T168 728-732 PR:P97679 denotes MLH1
T169 728-732 PR:Q9P7W6 denotes MLH1
T170 728-732 PR:000010442 denotes MLH1
T171 728-732 PR:P40692 denotes MLH1
T172 737-740 PR:Q6P7A9 denotes GAA
T173 737-740 PR:000007752 denotes GAA
T174 737-740 PR:P10253 denotes GAA
T175 737-740 PR:P70699 denotes GAA
T177 737-740 PR:Q9MYM4 denotes GAA
T176 737-740 CHEBI:144460 denotes GAA
T178 741-747 SO:0001068 denotes repeat
T180 763-767 PR:000007710 denotes FRDA
T181 763-767 PR:000022686 denotes FRDA
T182 763-767 PR:P00363 denotes FRDA
T183 763-767 PR:Q16595 denotes FRDA
T184 763-767 PR:O35943 denotes FRDA
T179 763-767 C565561 denotes FRDA
T185 816-819 PR:Q6P7A9 denotes GAA
T186 816-819 PR:000007752 denotes GAA
T187 816-819 PR:P10253 denotes GAA
T188 816-819 PR:P70699 denotes GAA
T190 816-819 PR:Q9MYM4 denotes GAA
T189 816-819 CHEBI:144460 denotes GAA
T191 820-826 SO:0001068 denotes repeat
T192 843-846 PR:000007710 denotes FXN
T193 843-846 Q8HXX9 denotes FXN
T194 843-846 Q9TY03 denotes FXN
T195 843-846 Q05B87 denotes FXN
T196 843-846 PR:D3ZYW7 denotes FXN
T197 843-846 Q54C45 denotes FXN
T198 843-846 D3ZYW7 denotes FXN
T199 843-846 Q9ZR07 denotes FXN
T200 843-846 B0YLW8 denotes FXN
T201 843-846 O35943 denotes FXN
T202 843-846 Q16595 denotes FXN
T203 843-846 PR:Q54C45 denotes FXN
T204 843-846 PR:Q16595 denotes FXN
T205 843-846 PR:O35943 denotes FXN
T206 843-846 Q8SWI3 denotes FXN
T207 847-857 SO:0000781 denotes transgenic
T208 847-862 10090 denotes transgenic mice
T209 847-862 D008822 denotes transgenic mice
T210 858-862 PR:000005054 denotes mice
T212 858-862 O89094 denotes mice
T217 891-895 CVCL_G669 denotes Mlh1
T214 891-895 PR:Q9ZRV4 denotes Mlh1
T215 891-895 PR:P38920 denotes Mlh1
T216 891-895 PR:Q54KD8 denotes Mlh1
T218 891-895 PR:Q9JK91 denotes Mlh1
T219 891-895 PR:P97679 denotes Mlh1
T220 891-895 PR:Q9P7W6 denotes Mlh1
T221 891-895 PR:000010442 denotes Mlh1
T222 891-895 PR:P40692 denotes Mlh1
T223 906-910 PR:000005054 denotes mice
T225 906-910 O89094 denotes mice
T224 906-910 D051379 denotes mice
T226 906-910 10095 denotes mice
T227 933-937 PR:Q9ZRV4 denotes Mlh1
T228 933-937 PR:P38920 denotes Mlh1
T229 933-937 PR:Q54KD8 denotes Mlh1
T231 933-937 PR:Q9JK91 denotes Mlh1
T232 933-937 PR:P97679 denotes Mlh1
T233 933-937 PR:Q9P7W6 denotes Mlh1
T234 933-937 PR:000010442 denotes Mlh1
T235 933-937 PR:P40692 denotes Mlh1
T230 933-937 CVCL_G669 denotes Mlh1
T236 990-993 PR:Q6P7A9 denotes GAA
T237 990-993 PR:000007752 denotes GAA
T238 990-993 PR:P10253 denotes GAA
T239 990-993 PR:P70699 denotes GAA
T241 990-993 PR:Q9MYM4 denotes GAA
T240 990-993 CHEBI:144460 denotes GAA
T242 994-1000 SO:0001068 denotes repeat
T243 1055-1059 PR:Q9ZRV4 denotes Mlh1
T244 1055-1059 PR:P38920 denotes Mlh1
T245 1055-1059 PR:Q54KD8 denotes Mlh1
T247 1055-1059 PR:Q9JK91 denotes Mlh1
T248 1055-1059 PR:P97679 denotes Mlh1
T249 1055-1059 PR:Q9P7W6 denotes Mlh1
T250 1055-1059 PR:000010442 denotes Mlh1
T251 1055-1059 PR:P40692 denotes Mlh1
T246 1055-1059 CVCL_G669 denotes Mlh1
T252 1063-1066 CHEBI:53396 denotes Pms
T255 1063-1066 CHEBI:53430 denotes Pms
T257 1063-1066 CHEBI:8055 denotes Pms
T258 1063-1067 PR:P54279 denotes Pms2
T259 1063-1067 PR:F1NQJ3 denotes Pms2
T260 1063-1067 PR:P38920 denotes Pms2
T261 1063-1067 PR:000012914 denotes Pms2
T262 1063-1067 PR:P54278 denotes Pms2
T263 1076-1079 PR:000007710 denotes FXN
T264 1076-1079 Q8HXX9 denotes FXN
T265 1076-1079 Q9TY03 denotes FXN
T266 1076-1079 Q05B87 denotes FXN
T267 1076-1079 PR:D3ZYW7 denotes FXN
T268 1076-1079 Q54C45 denotes FXN
T269 1076-1079 D3ZYW7 denotes FXN
T270 1076-1079 Q9ZR07 denotes FXN
T271 1076-1079 B0YLW8 denotes FXN
T272 1076-1079 O35943 denotes FXN
T273 1076-1079 Q16595 denotes FXN
T274 1076-1079 PR:Q54C45 denotes FXN
T275 1076-1079 PR:Q16595 denotes FXN
T276 1076-1079 PR:O35943 denotes FXN
T277 1076-1079 Q8SWI3 denotes FXN
T278 1080-1093 GO:0006351 denotes transcription
T279 1141-1145 PR:Q9ZRV4 denotes Mlh1
T280 1141-1145 PR:P38920 denotes Mlh1
T281 1141-1145 PR:Q54KD8 denotes Mlh1
T283 1141-1145 PR:Q9JK91 denotes Mlh1
T284 1141-1145 PR:P97679 denotes Mlh1
T285 1141-1145 PR:Q9P7W6 denotes Mlh1
T286 1141-1145 PR:000010442 denotes Mlh1
T287 1141-1145 PR:P40692 denotes Mlh1
T282 1141-1145 CVCL_G669 denotes Mlh1
T288 1150-1153 CHEBI:53396 denotes Pms
T291 1150-1153 CHEBI:53430 denotes Pms
T293 1150-1153 CHEBI:8055 denotes Pms
T294 1150-1154 PR:P54279 denotes Pms2
T295 1150-1154 PR:F1NQJ3 denotes Pms2
T296 1150-1154 PR:P38920 denotes Pms2
T297 1150-1154 PR:000012914 denotes Pms2
T298 1150-1154 PR:P54278 denotes Pms2
T299 1158-1161 PR:Q6P7A9 denotes GAA
T300 1158-1161 PR:000007752 denotes GAA
T301 1158-1161 PR:P10253 denotes GAA
T302 1158-1161 PR:P70699 denotes GAA
T304 1158-1161 PR:Q9MYM4 denotes GAA
T303 1158-1161 CHEBI:144460 denotes GAA
T305 1162-1168 SO:0001068 denotes repeat
T306 1192-1202 GO:0065007 denotes regulation
T307 1206-1209 PR:000007710 denotes FXN
T308 1206-1209 Q8HXX9 denotes FXN
T309 1206-1209 Q9TY03 denotes FXN
T310 1206-1209 Q05B87 denotes FXN
T311 1206-1209 PR:D3ZYW7 denotes FXN
T312 1206-1209 Q54C45 denotes FXN
T313 1206-1209 D3ZYW7 denotes FXN
T314 1206-1209 Q9ZR07 denotes FXN
T315 1206-1209 B0YLW8 denotes FXN
T316 1206-1209 O35943 denotes FXN
T317 1206-1209 Q16595 denotes FXN
T318 1206-1209 PR:Q54C45 denotes FXN
T319 1206-1209 PR:Q16595 denotes FXN
T320 1206-1209 PR:O35943 denotes FXN
T321 1206-1209 Q8SWI3 denotes FXN
T322 1210-1223 GO:0006351 denotes transcription
T323 1256-1260 PR:000023324 denotes MutL
T324 1256-1260 PR:Q93T05 denotes MutL
T325 1256-1260 PR:P23367 denotes MutL
T326 1274-1277 CHEBI:53396 denotes PMS
T329 1274-1277 CHEBI:53430 denotes PMS
T331 1274-1277 CHEBI:8055 denotes PMS
T332 1274-1278 PR:P54279 denotes PMS2
T333 1274-1278 PR:F1NQJ3 denotes PMS2
T334 1274-1278 PR:P38920 denotes PMS2
T335 1274-1278 PR:000012914 denotes PMS2
T336 1274-1278 PR:P54278 denotes PMS2
T337 1283-1287 PR:Q9ZRV4 denotes MLH1
T338 1283-1287 PR:P38920 denotes MLH1
T339 1283-1287 PR:Q54KD8 denotes MLH1
T341 1283-1287 PR:Q9JK91 denotes MLH1
T342 1283-1287 PR:P97679 denotes MLH1
T343 1283-1287 PR:Q9P7W6 denotes MLH1
T344 1283-1287 PR:000010442 denotes MLH1
T345 1283-1287 PR:P40692 denotes MLH1
T340 1283-1287 CVCL_G669 denotes MLH1
T347 1346-1350 PR:000007710 denotes FRDA
T348 1346-1350 PR:000022686 denotes FRDA
T349 1346-1350 PR:P00363 denotes FRDA
T350 1346-1350 PR:Q16595 denotes FRDA
T351 1346-1350 PR:O35943 denotes FRDA
T346 1346-1350 C565561 denotes FRDA
T352 1384-1388 PR:Q9ZRV4 denotes MLH1
T353 1384-1388 PR:P38920 denotes MLH1
T354 1384-1388 PR:Q54KD8 denotes MLH1
T356 1384-1388 PR:Q9JK91 denotes MLH1
T357 1384-1388 PR:P97679 denotes MLH1
T358 1384-1388 PR:Q9P7W6 denotes MLH1
T359 1384-1388 PR:000010442 denotes MLH1
T360 1384-1388 PR:P40692 denotes MLH1
T355 1384-1388 CVCL_G669 denotes MLH1
T361 1392-1395 CHEBI:53396 denotes PMS
T364 1392-1395 CHEBI:53430 denotes PMS
T366 1392-1395 CHEBI:8055 denotes PMS
T367 1392-1396 PR:P54279 denotes PMS2
T368 1392-1396 PR:F1NQJ3 denotes PMS2
T369 1392-1396 PR:P38920 denotes PMS2
T370 1392-1396 PR:000012914 denotes PMS2
T371 1392-1396 PR:P54278 denotes PMS2
T373 1416-1420 PR:000007710 denotes FRDA
T374 1416-1420 PR:000022686 denotes FRDA
T375 1416-1420 PR:P00363 denotes FRDA
T376 1416-1420 PR:Q16595 denotes FRDA
T377 1416-1420 PR:O35943 denotes FRDA
T372 1416-1420 C565561 denotes FRDA
T378 1456-1459 PR:000007710 denotes FXN
T379 1456-1459 Q8HXX9 denotes FXN
T380 1456-1459 Q9TY03 denotes FXN
T381 1456-1459 Q05B87 denotes FXN
T382 1456-1459 PR:D3ZYW7 denotes FXN
T383 1456-1459 Q54C45 denotes FXN
T384 1456-1459 D3ZYW7 denotes FXN
T385 1456-1459 Q9ZR07 denotes FXN
T386 1456-1459 B0YLW8 denotes FXN
T387 1456-1459 O35943 denotes FXN
T388 1456-1459 Q16595 denotes FXN
T389 1456-1459 PR:Q54C45 denotes FXN
T390 1456-1459 PR:Q16595 denotes FXN
T391 1456-1459 PR:O35943 denotes FXN
T392 1456-1459 Q8SWI3 denotes FXN
T393 1460-1473 GO:0006351 denotes transcription

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 95-101 HP_0001251 denotes ataxia
T2 126-145 HP_0000007 denotes autosomal recessive
T3 146-152 HP_0001251 denotes ataxia

Allie

Id Subject Object Predicate Lexical cue
SS1_24971578_2_0 84-101 expanded denotes Friedreich ataxia
SS2_24971578_2_0 103-107 abbr denotes FRDA
SS1_24971578_3_0 360-375 expanded denotes mismatch repair
SS2_24971578_3_0 377-380 abbr denotes MMR
AE1_24971578_2_0 SS1_24971578_2_0 SS2_24971578_2_0 abbreviatedTo Friedreich ataxia,FRDA
AE1_24971578_3_0 SS1_24971578_3_0 SS2_24971578_3_0 abbreviatedTo mismatch repair,MMR

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
24971578-1#102#105#gene2548 186-189 gene2548 denotes GAA
24971578-1#151#154#gene2395 235-238 gene2395 denotes FXN
24971578-1#193#201#gene2395 277-285 gene2395 denotes frataxin
24971578-1#0#17#diseaseC0016719 84-101 diseaseC0016719 denotes Friedreich ataxia
24971578-3#86#89#gene2548 737-740 gene2548 denotes GAA
24971578-3#112#116#diseaseC1856689 763-767 diseaseC1856689 denotes FRDA
24971578-7#32#36#gene4292 1384-1388 gene4292 denotes MLH1
24971578-7#40#44#gene5395 1392-1396 gene5395 denotes PMS2
24971578-7#104#107#gene2395 1456-1459 gene2395 denotes FXN
24971578-7#64#68#diseaseC1856689 1416-1420 diseaseC1856689 denotes FRDA
102#105#gene25480#17#diseaseC0016719 24971578-1#102#105#gene2548 24971578-1#0#17#diseaseC0016719 associated_with GAA,Friedreich ataxia
151#154#gene23950#17#diseaseC0016719 24971578-1#151#154#gene2395 24971578-1#0#17#diseaseC0016719 associated_with FXN,Friedreich ataxia
193#201#gene23950#17#diseaseC0016719 24971578-1#193#201#gene2395 24971578-1#0#17#diseaseC0016719 associated_with frataxin,Friedreich ataxia
86#89#gene2548112#116#diseaseC1856689 24971578-3#86#89#gene2548 24971578-3#112#116#diseaseC1856689 associated_with GAA,FRDA
32#36#gene429264#68#diseaseC1856689 24971578-7#32#36#gene4292 24971578-7#64#68#diseaseC1856689 associated_with MLH1,FRDA
40#44#gene539564#68#diseaseC1856689 24971578-7#40#44#gene5395 24971578-7#64#68#diseaseC1856689 associated_with PMS2,FRDA
104#107#gene239564#68#diseaseC1856689 24971578-7#104#107#gene2395 24971578-7#64#68#diseaseC1856689 associated_with FXN,FRDA