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PubMed:23408434 JSONTXT

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sentences

Id Subject Object Predicate Lexical cue
T1 0-122 Sentence denotes Neuronatin-mediated aberrant calcium signaling and endoplasmic reticulum stress underlie neuropathology in Lafora disease.
T2 123-368 Sentence denotes Lafora disease (LD) is a teenage-onset inherited progressive myoclonus epilepsy characterized by the accumulations of intracellular inclusions called Lafora bodies and caused by mutations in protein phosphatase laforin or ubiquitin ligase malin.
T3 369-474 Sentence denotes But how the loss of function of either laforin or malin causes disease pathogenesis is poorly understood.
T4 475-575 Sentence denotes Recently, neuronatin was identified as a novel substrate of malin that regulates glycogen synthesis.
T5 576-739 Sentence denotes Here we demonstrate that the level of neuronatin is significantly up-regulated in the skin biopsy sample of LD patients having mutations in both malin and laforin.
T6 740-858 Sentence denotes Neuronatin is highly expressed in human fetal brain with gradual decrease in expression in developing and adult brain.
T7 859-1002 Sentence denotes However, in adult brain, neuronatin is predominantly expressed in parvalbumin-positive GABAergic interneurons and localized in their processes.
T8 1003-1210 Sentence denotes The level of neuronatin is increased and accumulated as insoluble aggregates in the cortical area of LD brain biopsy samples, and there is also a dramatic loss of parvalbumin-positive GABAergic interneurons.
T9 1211-1423 Sentence denotes Ectopic expression of neuronatin in cultured neuronal cells results in increased intracellular Ca(2+), endoplasmic reticulum stress, proteasomal dysfunction, and cell death that can be partially rescued by malin.
T10 1424-1565 Sentence denotes These findings suggest that the neuronatin-induced aberrant Ca(2+) signaling and endoplasmic reticulum stress might underlie LD pathogenesis.

Glycosmos6-MAT

Id Subject Object Predicate Lexical cue
T1 662-666 http://purl.obolibrary.org/obo/MAT_0000284 denotes skin
T2 786-791 http://purl.obolibrary.org/obo/MAT_0000098 denotes brain
T3 852-857 http://purl.obolibrary.org/obo/MAT_0000098 denotes brain
T4 877-882 http://purl.obolibrary.org/obo/MAT_0000098 denotes brain
T5 1107-1112 http://purl.obolibrary.org/obo/MAT_0000098 denotes brain

DisGeNET

Id Subject Object Predicate Lexical cue
T0 0-10 gene:4826 denotes Neuronatin
T1 107-121 disease:C0751783 denotes Lafora disease
T2 0-10 gene:4826 denotes Neuronatin
T3 73-79 disease:C3825627 denotes stress
T4 334-341 gene:7957 denotes laforin
T5 139-141 disease:C0751783 denotes LD
T6 334-341 gene:7957 denotes laforin
T7 123-137 disease:C0751783 denotes Lafora disease
T8 614-624 gene:4826 denotes neuronatin
T9 684-686 disease:C0751783 denotes LD
T10 1016-1026 gene:4826 denotes neuronatin
T11 1104-1106 disease:C0751783 denotes LD
T12 1166-1177 gene:5816 denotes parvalbumin
T13 1104-1106 disease:C0751783 denotes LD
T14 1233-1243 gene:4826 denotes neuronatin
T15 1336-1342 disease:C3825627 denotes stress
T16 1456-1466 gene:4826 denotes neuronatin
T17 1549-1551 disease:C0751783 denotes LD
T18 1456-1466 gene:4826 denotes neuronatin
T19 1527-1533 disease:C3825627 denotes stress
R1 T0 T1 associated_with Neuronatin,Lafora disease
R2 T2 T3 associated_with Neuronatin,stress
R3 T4 T5 associated_with laforin,LD
R4 T6 T7 associated_with laforin,Lafora disease
R5 T8 T9 associated_with neuronatin,LD
R6 T10 T11 associated_with neuronatin,LD
R7 T12 T13 associated_with parvalbumin,LD
R8 T14 T15 associated_with neuronatin,stress
R9 T16 T17 associated_with neuronatin,LD
R10 T18 T19 associated_with neuronatin,stress

Allie

Id Subject Object Predicate Lexical cue
SS1_23408434_1_0 123-137 expanded denotes Lafora disease
SS2_23408434_1_0 139-141 abbr denotes LD
AE1_23408434_1_0 SS1_23408434_1_0 SS2_23408434_1_0 abbreviatedTo Lafora disease,LD

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 184-193 HP_0001336 denotes myoclonus
T2 273-286 HP_0100318 denotes Lafora bodies

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
23408434-0#0#10#gene4826 0-10 gene4826 denotes Neuronatin
23408434-0#107#121#diseaseC0751783 107-121 diseaseC0751783 denotes Lafora disease
23408434-1#211#218#gene7957 334-341 gene7957 denotes laforin
23408434-1#0#14#diseaseC0751783 123-137 diseaseC0751783 denotes Lafora disease
23408434-1#16#18#diseaseC0751783 139-141 diseaseC0751783 denotes LD
23408434-1#49#79#diseaseC0751778 172-202 diseaseC0751778 denotes progressive myoclonus epilepsy
23408434-7#163#174#gene5816 1166-1177 gene5816 denotes parvalbumin
23408434-7#101#103#diseaseC0751783 1104-1106 diseaseC0751783 denotes LD
23408434-8#22#32#gene4826 1233-1243 gene4826 denotes neuronatin
23408434-8#145#156#diseaseC3887505 1356-1367 diseaseC3887505 denotes dysfunction
0#10#gene4826107#121#diseaseC0751783 23408434-0#0#10#gene4826 23408434-0#107#121#diseaseC0751783 associated_with Neuronatin,Lafora disease
211#218#gene79570#14#diseaseC0751783 23408434-1#211#218#gene7957 23408434-1#0#14#diseaseC0751783 associated_with laforin,Lafora disease
211#218#gene795716#18#diseaseC0751783 23408434-1#211#218#gene7957 23408434-1#16#18#diseaseC0751783 associated_with laforin,LD
211#218#gene795749#79#diseaseC0751778 23408434-1#211#218#gene7957 23408434-1#49#79#diseaseC0751778 associated_with laforin,progressive myoclonus epilepsy
163#174#gene5816101#103#diseaseC0751783 23408434-7#163#174#gene5816 23408434-7#101#103#diseaseC0751783 associated_with parvalbumin,LD
22#32#gene4826145#156#diseaseC3887505 23408434-8#22#32#gene4826 23408434-8#145#156#diseaseC3887505 associated_with neuronatin,dysfunction

CHEMDNER-training-test

Id Subject Object Predicate Lexical cue
T1 1306-1312 FORMULA denotes Ca(2+)
T2 1484-1490 FORMULA denotes Ca(2+)
T1 29-36 SYSTEMATIC denotes calcium

Anatomy-MAT

Id Subject Object Predicate Lexical cue mat_id
T1 662-666 Body_part denotes skin http://purl.obolibrary.org/obo/MAT_0000284
T2 786-791 Body_part denotes brain http://purl.obolibrary.org/obo/MAT_0000098
T3 852-857 Body_part denotes brain http://purl.obolibrary.org/obo/MAT_0000098
T4 877-882 Body_part denotes brain http://purl.obolibrary.org/obo/MAT_0000098
T5 1107-1112 Body_part denotes brain http://purl.obolibrary.org/obo/MAT_0000098

HP-phenotype

Id Subject Object Predicate Lexical cue hp_id
T1 184-193 Phenotype denotes myoclonus HP:0001336
T2 194-202 Phenotype denotes epilepsy HP:0001250
T3 273-286 Phenotype denotes Lafora bodies HP:0100318

mondo_disease

Id Subject Object Predicate Lexical cue mondo_id
T1 107-121 Disease denotes Lafora disease http://purl.obolibrary.org/obo/MONDO_0009697
T2 123-137 Disease denotes Lafora disease http://purl.obolibrary.org/obo/MONDO_0009697
T3 139-141 Disease denotes LD http://purl.obolibrary.org/obo/MONDO_0009697
T4 172-202 Disease denotes progressive myoclonus epilepsy http://purl.obolibrary.org/obo/MONDO_0020074
T5 684-686 Disease denotes LD http://purl.obolibrary.org/obo/MONDO_0009697
T6 1104-1106 Disease denotes LD http://purl.obolibrary.org/obo/MONDO_0009697
T7 1549-1551 Disease denotes LD http://purl.obolibrary.org/obo/MONDO_0009697

NCBITAXON

Id Subject Object Predicate Lexical cue db_id
T1 774-779 OrganismTaxon denotes human 9606

Anatomy-UBERON

Id Subject Object Predicate Lexical cue uberon_id
T1 63-72 Body_part denotes reticulum http://purl.obolibrary.org/obo/UBERON_0007361
T2 241-254 Body_part denotes intracellular http://purl.obolibrary.org/obo/GO_0005622
T3 662-666 Body_part denotes skin http://purl.obolibrary.org/obo/UBERON_0000014|http://purl.obolibrary.org/obo/UBERON_0001003|http://purl.obolibrary.org/obo/UBERON_0002097|http://purl.obolibrary.org/obo/UBERON_0002199
T7 786-791 Body_part denotes brain http://purl.obolibrary.org/obo/UBERON_0000955|http://purl.obolibrary.org/obo/UBERON_6110636
T9 852-857 Body_part denotes brain http://purl.obolibrary.org/obo/UBERON_0000955|http://purl.obolibrary.org/obo/UBERON_6110636
T11 877-882 Body_part denotes brain http://purl.obolibrary.org/obo/UBERON_0000955|http://purl.obolibrary.org/obo/UBERON_6110636
T13 946-968 Body_part denotes GABAergic interneurons http://purl.obolibrary.org/obo/CL_0011005
T14 1107-1112 Body_part denotes brain http://purl.obolibrary.org/obo/UBERON_0000955|http://purl.obolibrary.org/obo/UBERON_6110636
T16 1187-1209 Body_part denotes GABAergic interneurons http://purl.obolibrary.org/obo/CL_0011005
T17 1292-1305 Body_part denotes intracellular http://purl.obolibrary.org/obo/GO_0005622
T18 1326-1335 Body_part denotes reticulum http://purl.obolibrary.org/obo/UBERON_0007361
T19 1517-1526 Body_part denotes reticulum http://purl.obolibrary.org/obo/UBERON_0007361

CL-cell

Id Subject Object Predicate Lexical cue cl_id
T1 946-968 Cell denotes GABAergic interneurons http://purl.obolibrary.org/obo/CL:0011005
T2 1187-1209 Cell denotes GABAergic interneurons http://purl.obolibrary.org/obo/CL:0011005
T3 1256-1264 Cell denotes neuronal http://purl.obolibrary.org/obo/CL:0000540