PMC:1892049 / 0-802 JSONTXT

{"project":"craft-ca-core-ex-dev","denotations":[{"id":"T822","span":{"begin":0,"end":8},"obj":"SO_EXT:sequence_deletion_entity_or_process"},{"id":"T823","span":{"begin":12,"end":17},"obj":"PR_EXT:000009158"},{"id":"T824","span":{"begin":38,"end":42},"obj":"NCBITaxon:10088"},{"id":"T825","span":{"begin":47,"end":62},"obj":"UBERON:0014643"},{"id":"T826","span":{"begin":76,"end":82},"obj":"NCBITaxon:9606"},{"id":"T827","span":{"begin":143,"end":152},"obj":"GO:0030849"},{"id":"T828","span":{"begin":163,"end":171},"obj":"GO_EXT:biological_movement_or_translocation_process"},{"id":"T829","span":{"begin":184,"end":188},"obj":"NCBITaxon:10088"},{"id":"T830","span":{"begin":266,"end":273},"obj":"SO_EXT:0000704"},{"id":"T831","span":{"begin":343,"end":349},"obj":"NCBITaxon:9606"},{"id":"T832","span":{"begin":355,"end":363},"obj":"SO_EXT:sequence_alteration_entity_or_process"},{"id":"T833","span":{"begin":403,"end":411},"obj":"SO_EXT:biological_sequence"},{"id":"T834","span":{"begin":479,"end":487},"obj":"SO:0001817"},{"id":"T835","span":{"begin":491,"end":493},"obj":"SO_EXT:0000028"},{"id":"T836","span":{"begin":494,"end":502},"obj":"SO_EXT:sequence_deletion_entity_or_process"},{"id":"T837","span":{"begin":506,"end":511},"obj":"PR_EXT:000009158"},{"id":"T838","span":{"begin":513,"end":518},"obj":"PR_EXT:000009158"},{"id":"T839","span":{"begin":528,"end":536},"obj":"SO_EXT:sequence_coding_function"},{"id":"T840","span":{"begin":537,"end":564},"obj":"CHEBI_EXT:1D_myo_inositol_1_4_5_trisphosphate"},{"id":"T841","span":{"begin":537,"end":573},"obj":"GO_EXT:0005220"},{"id":"T842","span":{"begin":537,"end":575},"obj":"PR_EXT:000009158"},{"id":"T843","span":{"begin":611,"end":616},"obj":"PR_EXT:000009158"},{"id":"T844","span":{"begin":617,"end":625},"obj":"SO_EXT:sequence_alteration_entity_or_process"},{"id":"T845","span":{"begin":629,"end":633},"obj":"NCBITaxon:10088"},{"id":"T846","span":{"begin":701,"end":709},"obj":"SO:0001817"},{"id":"T847","span":{"begin":710,"end":718},"obj":"SO_EXT:sequence_deletion_entity_or_process"},{"id":"T848","span":{"begin":726,"end":731},"obj":"PR_EXT:000009158"},{"id":"T849","span":{"begin":782,"end":787},"obj":"PR_EXT:000009158"},{"id":"T850","span":{"begin":788,"end":798},"obj":"GO:0010467"}],"text":"Deletion at ITPR1 Underlies Ataxia in Mice and Spinocerebellar Ataxia 15 in Humans\nITPR1 Deletion Causes Ataxia\n\nAbstract\nWe observed a severe autosomal recessive movement disorder in mice used within our laboratory. We pursued a series of experiments to define the genetic lesion underlying this disorder and to identify a cognate disease in humans with mutation at the same locus. Through linkage and sequence analysis we show here that this disorder is caused by a homozygous in-frame 18-bp deletion in Itpr1 (Itpr1Δ18/Δ18), encoding inositol 1,4,5-triphosphate receptor 1. A previously reported spontaneous Itpr1 mutation in mice causes a phenotype identical to that observed here. In both models in-frame deletion within Itpr1 leads to a decrease in the normally high level of Itpr1 expression in "}

{"project":"craft-ca-core-dev","denotations":[{"id":"T788","span":{"begin":12,"end":17},"obj":"PR:000009158"},{"id":"T789","span":{"begin":38,"end":42},"obj":"NCBITaxon:10088"},{"id":"T790","span":{"begin":47,"end":62},"obj":"UBERON:0014643"},{"id":"T791","span":{"begin":76,"end":82},"obj":"NCBITaxon:9606"},{"id":"T792","span":{"begin":143,"end":152},"obj":"GO:0030849"},{"id":"T793","span":{"begin":184,"end":188},"obj":"NCBITaxon:10088"},{"id":"T794","span":{"begin":266,"end":273},"obj":"SO:0000704"},{"id":"T795","span":{"begin":343,"end":349},"obj":"NCBITaxon:9606"},{"id":"T796","span":{"begin":479,"end":487},"obj":"SO:0001817"},{"id":"T797","span":{"begin":491,"end":493},"obj":"SO:0000028"},{"id":"T798","span":{"begin":506,"end":511},"obj":"PR:000009158"},{"id":"T799","span":{"begin":513,"end":518},"obj":"PR:000009158"},{"id":"T800","span":{"begin":537,"end":575},"obj":"PR:000009158"},{"id":"T801","span":{"begin":611,"end":616},"obj":"PR:000009158"},{"id":"T802","span":{"begin":629,"end":633},"obj":"NCBITaxon:10088"},{"id":"T803","span":{"begin":701,"end":709},"obj":"SO:0001817"},{"id":"T804","span":{"begin":726,"end":731},"obj":"PR:000009158"},{"id":"T805","span":{"begin":782,"end":787},"obj":"PR:000009158"},{"id":"T806","span":{"begin":788,"end":798},"obj":"GO:0010467"}],"text":"Deletion at ITPR1 Underlies Ataxia in Mice and Spinocerebellar Ataxia 15 in Humans\nITPR1 Deletion Causes Ataxia\n\nAbstract\nWe observed a severe autosomal recessive movement disorder in mice used within our laboratory. We pursued a series of experiments to define the genetic lesion underlying this disorder and to identify a cognate disease in humans with mutation at the same locus. Through linkage and sequence analysis we show here that this disorder is caused by a homozygous in-frame 18-bp deletion in Itpr1 (Itpr1Δ18/Δ18), encoding inositol 1,4,5-triphosphate receptor 1. A previously reported spontaneous Itpr1 mutation in mice causes a phenotype identical to that observed here. In both models in-frame deletion within Itpr1 leads to a decrease in the normally high level of Itpr1 expression in "}

{"project":"craft-sa-dev","denotations":[{"id":"T871","span":{"begin":0,"end":8},"obj":"NN"},{"id":"T872","span":{"begin":18,"end":27},"obj":"VBZ"},{"id":"T873","span":{"begin":0,"end":82},"obj":"sentence"},{"id":"T874","span":{"begin":9,"end":11},"obj":"IN"},{"id":"T875","span":{"begin":12,"end":17},"obj":"NNP"},{"id":"T876","span":{"begin":28,"end":34},"obj":"NN"},{"id":"T877","span":{"begin":35,"end":37},"obj":"IN"},{"id":"T878","span":{"begin":38,"end":42},"obj":"NNS"},{"id":"T879","span":{"begin":43,"end":46},"obj":"CC"},{"id":"T880","span":{"begin":47,"end":62},"obj":"JJ"},{"id":"T881","span":{"begin":63,"end":69},"obj":"NN"},{"id":"T882","span":{"begin":70,"end":72},"obj":"CD"},{"id":"T883","span":{"begin":73,"end":75},"obj":"IN"},{"id":"T884","span":{"begin":76,"end":82},"obj":"NNS"},{"id":"T887","span":{"begin":82,"end":216},"obj":"sentence"},{"id":"T888","span":{"begin":122,"end":124},"obj":"PRP"},{"id":"T889","span":{"begin":125,"end":133},"obj":"VBD"},{"id":"T890","span":{"begin":134,"end":135},"obj":"DT"},{"id":"T891","span":{"begin":172,"end":180},"obj":"NN"},{"id":"T892","span":{"begin":136,"end":142},"obj":"JJ"},{"id":"T893","span":{"begin":143,"end":152},"obj":"JJ"},{"id":"T894","span":{"begin":153,"end":162},"obj":"JJ"},{"id":"T895","span":{"begin":163,"end":171},"obj":"NN"},{"id":"T896","span":{"begin":181,"end":183},"obj":"IN"},{"id":"T897","span":{"begin":184,"end":188},"obj":"NNS"},{"id":"T898","span":{"begin":189,"end":193},"obj":"VBN"},{"id":"T899","span":{"begin":194,"end":200},"obj":"IN"},{"id":"T900","span":{"begin":201,"end":204},"obj":"PRP$"},{"id":"T901","span":{"begin":205,"end":215},"obj":"NN"},{"id":"T902","span":{"begin":215,"end":216},"obj":"."},{"id":"T903","span":{"begin":216,"end":382},"obj":"sentence"},{"id":"T904","span":{"begin":217,"end":219},"obj":"PRP"},{"id":"T905","span":{"begin":220,"end":227},"obj":"VBD"},{"id":"T906","span":{"begin":228,"end":229},"obj":"DT"},{"id":"T907","span":{"begin":230,"end":236},"obj":"NN"},{"id":"T908","span":{"begin":237,"end":239},"obj":"IN"},{"id":"T909","span":{"begin":240,"end":251},"obj":"NNS"},{"id":"T910","span":{"begin":252,"end":254},"obj":"TO"},{"id":"T911","span":{"begin":255,"end":261},"obj":"VB"},{"id":"T912","span":{"begin":262,"end":265},"obj":"DT"},{"id":"T913","span":{"begin":274,"end":280},"obj":"NN"},{"id":"T914","span":{"begin":266,"end":273},"obj":"JJ"},{"id":"T915","span":{"begin":281,"end":291},"obj":"VBG"},{"id":"T916","span":{"begin":292,"end":296},"obj":"DT"},{"id":"T917","span":{"begin":297,"end":305},"obj":"NN"},{"id":"T918","span":{"begin":306,"end":309},"obj":"CC"},{"id":"T919","span":{"begin":310,"end":312},"obj":"TO"},{"id":"T920","span":{"begin":313,"end":321},"obj":"VB"},{"id":"T921","span":{"begin":322,"end":323},"obj":"DT"},{"id":"T922","span":{"begin":332,"end":339},"obj":"NN"},{"id":"T923","span":{"begin":324,"end":331},"obj":"JJ"},{"id":"T924","span":{"begin":340,"end":342},"obj":"IN"},{"id":"T925","span":{"begin":343,"end":349},"obj":"NNS"},{"id":"T926","span":{"begin":350,"end":354},"obj":"IN"},{"id":"T927","span":{"begin":355,"end":363},"obj":"NN"},{"id":"T928","span":{"begin":364,"end":366},"obj":"IN"},{"id":"T929","span":{"begin":367,"end":370},"obj":"DT"},{"id":"T930","span":{"begin":376,"end":381},"obj":"NN"},{"id":"T931","span":{"begin":371,"end":375},"obj":"JJ"},{"id":"T932","span":{"begin":381,"end":382},"obj":"."},{"id":"T933","span":{"begin":382,"end":576},"obj":"sentence"},{"id":"T934","span":{"begin":383,"end":390},"obj":"IN"},{"id":"T935","span":{"begin":424,"end":428},"obj":"VBP"},{"id":"T936","span":{"begin":391,"end":398},"obj":"NN"},{"id":"T937","span":{"begin":412,"end":420},"obj":"NN"},{"id":"T938","span":{"begin":399,"end":402},"obj":"CC"},{"id":"T939","span":{"begin":403,"end":411},"obj":"NN"},{"id":"T940","span":{"begin":421,"end":423},"obj":"PRP"},{"id":"T941","span":{"begin":429,"end":433},"obj":"RB"},{"id":"T942","span":{"begin":434,"end":438},"obj":"IN"},{"id":"T943","span":{"begin":456,"end":462},"obj":"VBN"},{"id":"T944","span":{"begin":439,"end":443},"obj":"DT"},{"id":"T945","span":{"begin":444,"end":452},"obj":"NN"},{"id":"T946","span":{"begin":453,"end":455},"obj":"VBZ"},{"id":"T947","span":{"begin":463,"end":465},"obj":"IN"},{"id":"T948","span":{"begin":466,"end":467},"obj":"DT"},{"id":"T949","span":{"begin":494,"end":502},"obj":"NN"},{"id":"T950","span":{"begin":468,"end":478},"obj":"JJ"},{"id":"T951","span":{"begin":479,"end":481},"obj":"IN"},{"id":"T952","span":{"begin":481,"end":482},"obj":"HYPH"},{"id":"T953","span":{"begin":482,"end":487},"obj":"NN"},{"id":"T954","span":{"begin":488,"end":490},"obj":"CD"},{"id":"T955","span":{"begin":491,"end":493},"obj":"NN"},{"id":"T956","span":{"begin":490,"end":491},"obj":"HYPH"},{"id":"T957","span":{"begin":503,"end":505},"obj":"IN"},{"id":"T958","span":{"begin":506,"end":511},"obj":"NN"},{"id":"T959","span":{"begin":512,"end":513},"obj":"-LRB-"},{"id":"T960","span":{"begin":522,"end":525},"obj":"NN"},{"id":"T961","span":{"begin":513,"end":518},"obj":"NN"},{"id":"T962","span":{"begin":518,"end":521},"obj":"NN"},{"id":"T963","span":{"begin":521,"end":522},"obj":"HYPH"},{"id":"T964","span":{"begin":525,"end":526},"obj":"-RRB-"},{"id":"T965","span":{"begin":526,"end":528},"obj":","},{"id":"T966","span":{"begin":528,"end":536},"obj":"VBG"},{"id":"T967","span":{"begin":537,"end":545},"obj":"NN"},{"id":"T968","span":{"begin":565,"end":573},"obj":"NN"},{"id":"T969","span":{"begin":546,"end":547},"obj":"CD"},{"id":"T970","span":{"begin":550,"end":551},"obj":"CD"},{"id":"T971","span":{"begin":547,"end":548},"obj":","},{"id":"T972","span":{"begin":548,"end":549},"obj":"CD"},{"id":"T973","span":{"begin":549,"end":550},"obj":","},{"id":"T974","span":{"begin":552,"end":564},"obj":"NN"},{"id":"T975","span":{"begin":551,"end":552},"obj":"HYPH"},{"id":"T976","span":{"begin":574,"end":575},"obj":"CD"},{"id":"T977","span":{"begin":575,"end":576},"obj":"."},{"id":"T978","span":{"begin":576,"end":685},"obj":"sentence"},{"id":"T979","span":{"begin":577,"end":578},"obj":"DT"},{"id":"T980","span":{"begin":617,"end":625},"obj":"NN"},{"id":"T981","span":{"begin":579,"end":589},"obj":"RB"},{"id":"T982","span":{"begin":590,"end":598},"obj":"VBN"},{"id":"T983","span":{"begin":599,"end":610},"obj":"JJ"},{"id":"T984","span":{"begin":611,"end":616},"obj":"NN"},{"id":"T985","span":{"begin":634,"end":640},"obj":"VBZ"},{"id":"T986","span":{"begin":626,"end":628},"obj":"IN"},{"id":"T987","span":{"begin":629,"end":633},"obj":"NNS"},{"id":"T988","span":{"begin":641,"end":642},"obj":"DT"},{"id":"T989","span":{"begin":643,"end":652},"obj":"NN"},{"id":"T990","span":{"begin":653,"end":662},"obj":"JJ"},{"id":"T991","span":{"begin":663,"end":665},"obj":"IN"},{"id":"T992","span":{"begin":666,"end":670},"obj":"DT"},{"id":"T993","span":{"begin":671,"end":679},"obj":"VBN"},{"id":"T994","span":{"begin":680,"end":684},"obj":"RB"},{"id":"T995","span":{"begin":684,"end":685},"obj":"."},{"id":"T997","span":{"begin":686,"end":688},"obj":"IN"},{"id":"T998","span":{"begin":732,"end":737},"obj":"VBZ"},{"id":"T999","span":{"begin":689,"end":693},"obj":"DT"},{"id":"T1000","span":{"begin":694,"end":700},"obj":"NNS"},{"id":"T1001","span":{"begin":701,"end":703},"obj":"IN"},{"id":"T1002","span":{"begin":704,"end":709},"obj":"NN"},{"id":"T1003","span":{"begin":703,"end":704},"obj":"HYPH"},{"id":"T1004","span":{"begin":710,"end":718},"obj":"NN"},{"id":"T1005","span":{"begin":719,"end":725},"obj":"IN"},{"id":"T1006","span":{"begin":726,"end":731},"obj":"NN"},{"id":"T1007","span":{"begin":738,"end":740},"obj":"IN"},{"id":"T1008","span":{"begin":741,"end":742},"obj":"DT"},{"id":"T1009","span":{"begin":743,"end":751},"obj":"NN"},{"id":"T1010","span":{"begin":752,"end":754},"obj":"IN"},{"id":"T1011","span":{"begin":755,"end":758},"obj":"DT"},{"id":"T1012","span":{"begin":773,"end":778},"obj":"NN"},{"id":"T1013","span":{"begin":759,"end":767},"obj":"RB"},{"id":"T1014","span":{"begin":768,"end":772},"obj":"JJ"},{"id":"T1015","span":{"begin":779,"end":781},"obj":"IN"},{"id":"T1016","span":{"begin":782,"end":787},"obj":"NN"},{"id":"T1017","span":{"begin":788,"end":798},"obj":"NN"},{"id":"T1018","span":{"begin":799,"end":801},"obj":"IN"}],"relations":[{"id":"R66","pred":"det","subj":"T944","obj":"T945"},{"id":"R3","pred":"nsubj","subj":"T871","obj":"T872"},{"id":"R4","pred":"prep","subj":"T874","obj":"T871"},{"id":"R5","pred":"pobj","subj":"T875","obj":"T874"},{"id":"R6","pred":"dobj","subj":"T876","obj":"T872"},{"id":"R7","pred":"prep","subj":"T877","obj":"T876"},{"id":"R8","pred":"pobj","subj":"T878","obj":"T877"},{"id":"R9","pred":"cc","subj":"T879","obj":"T876"},{"id":"R10","pred":"amod","subj":"T880","obj":"T881"},{"id":"R11","pred":"conj","subj":"T881","obj":"T876"},{"id":"R12","pred":"nummod","subj":"T882","obj":"T881"},{"id":"R13","pred":"prep","subj":"T883","obj":"T881"},{"id":"R14","pred":"pobj","subj":"T884","obj":"T883"},{"id":"R15","pred":"nsubj","subj":"T888","obj":"T889"},{"id":"R16","pred":"det","subj":"T890","obj":"T891"},{"id":"R17","pred":"dobj","subj":"T891","obj":"T889"},{"id":"R18","pred":"amod","subj":"T892","obj":"T891"},{"id":"R19","pred":"amod","subj":"T893","obj":"T891"},{"id":"R20","pred":"amod","subj":"T894","obj":"T891"},{"id":"R21","pred":"compound","subj":"T895","obj":"T891"},{"id":"R22","pred":"prep","subj":"T896","obj":"T889"},{"id":"R23","pred":"pobj","subj":"T897","obj":"T896"},{"id":"R24","pred":"acl","subj":"T898","obj":"T897"},{"id":"R25","pred":"prep","subj":"T899","obj":"T898"},{"id":"R26","pred":"poss","subj":"T900","obj":"T901"},{"id":"R27","pred":"pobj","subj":"T901","obj":"T899"},{"id":"R28","pred":"punct","subj":"T902","obj":"T889"},{"id":"R29","pred":"nsubj","subj":"T904","obj":"T905"},{"id":"R30","pred":"det","subj":"T906","obj":"T907"},{"id":"R31","pred":"dobj","subj":"T907","obj":"T905"},{"id":"R32","pred":"prep","subj":"T908","obj":"T907"},{"id":"R33","pred":"pobj","subj":"T909","obj":"T908"},{"id":"R34","pred":"aux","subj":"T910","obj":"T911"},{"id":"R35","pred":"advcl","subj":"T911","obj":"T905"},{"id":"R36","pred":"det","subj":"T912","obj":"T913"},{"id":"R37","pred":"dobj","subj":"T913","obj":"T911"},{"id":"R38","pred":"amod","subj":"T914","obj":"T913"},{"id":"R39","pred":"acl","subj":"T915","obj":"T913"},{"id":"R40","pred":"det","subj":"T916","obj":"T917"},{"id":"R41","pred":"dobj","subj":"T917","obj":"T915"},{"id":"R42","pred":"cc","subj":"T918","obj":"T911"},{"id":"R43","pred":"aux","subj":"T919","obj":"T920"},{"id":"R44","pred":"conj","subj":"T920","obj":"T911"},{"id":"R45","pred":"det","subj":"T921","obj":"T922"},{"id":"R46","pred":"dobj","subj":"T922","obj":"T920"},{"id":"R47","pred":"amod","subj":"T923","obj":"T922"},{"id":"R48","pred":"prep","subj":"T924","obj":"T920"},{"id":"R49","pred":"pobj","subj":"T925","obj":"T924"},{"id":"R50","pred":"prep","subj":"T926","obj":"T925"},{"id":"R51","pred":"pobj","subj":"T927","obj":"T926"},{"id":"R52","pred":"prep","subj":"T928","obj":"T927"},{"id":"R53","pred":"det","subj":"T929","obj":"T930"},{"id":"R54","pred":"pobj","subj":"T930","obj":"T928"},{"id":"R55","pred":"amod","subj":"T931","obj":"T930"},{"id":"R56","pred":"punct","subj":"T932","obj":"T905"},{"id":"R57","pred":"prep","subj":"T934","obj":"T935"},{"id":"R58","pred":"nmod","subj":"T936","obj":"T937"},{"id":"R60","pred":"cc","subj":"T938","obj":"T936"},{"id":"R61","pred":"conj","subj":"T939","obj":"T936"},{"id":"R62","pred":"nsubj","subj":"T940","obj":"T935"},{"id":"R63","pred":"advmod","subj":"T941","obj":"T935"},{"id":"R64","pred":"mark","subj":"T942","obj":"T943"},{"id":"R65","pred":"ccomp","subj":"T943","obj":"T935"},{"id":"R67","pred":"nsubjpass","subj":"T945","obj":"T943"},{"id":"R68","pred":"auxpass","subj":"T946","obj":"T943"},{"id":"R69","pred":"agent","subj":"T947","obj":"T943"},{"id":"R70","pred":"det","subj":"T948","obj":"T949"},{"id":"R71","pred":"pobj","subj":"T949","obj":"T947"},{"id":"R72","pred":"amod","subj":"T950","obj":"T949"},{"id":"R73","pred":"nmod","subj":"T951","obj":"T949"},{"id":"R74","pred":"punct","subj":"T952","obj":"T951"},{"id":"R75","pred":"pobj","subj":"T953","obj":"T951"},{"id":"R76","pred":"nummod","subj":"T954","obj":"T955"},{"id":"R77","pred":"compound","subj":"T955","obj":"T949"},{"id":"R78","pred":"punct","subj":"T956","obj":"T955"},{"id":"R79","pred":"prep","subj":"T957","obj":"T949"},{"id":"R80","pred":"pobj","subj":"T958","obj":"T957"},{"id":"R81","pred":"punct","subj":"T959","obj":"T960"},{"id":"R82","pred":"parataxis","subj":"T960","obj":"T958"},{"id":"R83","pred":"compound","subj":"T961","obj":"T960"},{"id":"R84","pred":"compound","subj":"T962","obj":"T960"},{"id":"R85","pred":"punct","subj":"T963","obj":"T960"},{"id":"R86","pred":"punct","subj":"T964","obj":"T960"},{"id":"R87","pred":"punct","subj":"T965","obj":"T949"},{"id":"R88","pred":"acl","subj":"T966","obj":"T949"},{"id":"R89","pred":"nmod","subj":"T967","obj":"T968"},{"id":"R90","pred":"dobj","subj":"T968","obj":"T966"},{"id":"R91","pred":"nummod","subj":"T969","obj":"T970"},{"id":"R93","pred":"punct","subj":"T971","obj":"T970"},{"id":"R94","pred":"nummod","subj":"T972","obj":"T970"},{"id":"R95","pred":"punct","subj":"T973","obj":"T970"},{"id":"R96","pred":"compound","subj":"T974","obj":"T968"},{"id":"R97","pred":"punct","subj":"T975","obj":"T974"},{"id":"R98","pred":"nummod","subj":"T976","obj":"T968"},{"id":"R99","pred":"punct","subj":"T977","obj":"T935"},{"id":"R100","pred":"det","subj":"T979","obj":"T980"},{"id":"R101","pred":"nsubj","subj":"T980","obj":"T985"},{"id":"R102","pred":"advmod","subj":"T981","obj":"T982"},{"id":"R103","pred":"amod","subj":"T982","obj":"T980"},{"id":"R104","pred":"amod","subj":"T983","obj":"T980"},{"id":"R105","pred":"compound","subj":"T984","obj":"T980"},{"id":"R106","pred":"prep","subj":"T986","obj":"T980"},{"id":"R107","pred":"pobj","subj":"T987","obj":"T986"},{"id":"R108","pred":"det","subj":"T988","obj":"T989"},{"id":"R109","pred":"dobj","subj":"T989","obj":"T985"},{"id":"R110","pred":"amod","subj":"T990","obj":"T989"},{"id":"R111","pred":"prep","subj":"T991","obj":"T990"},{"id":"R112","pred":"pobj","subj":"T992","obj":"T991"},{"id":"R113","pred":"acl","subj":"T993","obj":"T992"},{"id":"R114","pred":"advmod","subj":"T994","obj":"T993"},{"id":"R115","pred":"punct","subj":"T995","obj":"T985"},{"id":"R116","pred":"prep","subj":"T997","obj":"T998"},{"id":"R117","pred":"det","subj":"T999","obj":"T1000"},{"id":"R118","pred":"pobj","subj":"T1000","obj":"T997"},{"id":"R119","pred":"nmod","subj":"T1001","obj":"T1002"},{"id":"R120","pred":"compound","subj":"T1002","obj":"T1004"},{"id":"R121","pred":"punct","subj":"T1003","obj":"T1002"},{"id":"R122","pred":"nsubj","subj":"T1004","obj":"T998"},{"id":"R123","pred":"prep","subj":"T1005","obj":"T1004"},{"id":"R124","pred":"pobj","subj":"T1006","obj":"T1005"},{"id":"R125","pred":"prep","subj":"T1007","obj":"T998"},{"id":"R126","pred":"det","subj":"T1008","obj":"T1009"},{"id":"R127","pred":"pobj","subj":"T1009","obj":"T1007"},{"id":"R128","pred":"prep","subj":"T1010","obj":"T1009"},{"id":"R129","pred":"det","subj":"T1011","obj":"T1012"},{"id":"R131","pred":"advmod","subj":"T1013","obj":"T1014"},{"id":"R132","pred":"amod","subj":"T1014","obj":"T1012"},{"id":"R133","pred":"prep","subj":"T1015","obj":"T1012"},{"id":"R134","pred":"compound","subj":"T1016","obj":"T1017"},{"id":"R135","pred":"pobj","subj":"T1017","obj":"T1015"},{"id":"R136","pred":"prep","subj":"T1018","obj":"T1017"},{"id":"R59","pred":"pobj","subj":"T937","obj":"T934"},{"id":"R92","pred":"nummod","subj":"T970","obj":"T974"},{"id":"R130","pred":"pobj","subj":"T1012","obj":"T1010"}],"text":"Deletion at ITPR1 Underlies Ataxia in Mice and Spinocerebellar Ataxia 15 in Humans\nITPR1 Deletion Causes Ataxia\n\nAbstract\nWe observed a severe autosomal recessive movement disorder in mice used within our laboratory. We pursued a series of experiments to define the genetic lesion underlying this disorder and to identify a cognate disease in humans with mutation at the same locus. Through linkage and sequence analysis we show here that this disorder is caused by a homozygous in-frame 18-bp deletion in Itpr1 (Itpr1Δ18/Δ18), encoding inositol 1,4,5-triphosphate receptor 1. A previously reported spontaneous Itpr1 mutation in mice causes a phenotype identical to that observed here. In both models in-frame deletion within Itpr1 leads to a decrease in the normally high level of Itpr1 expression in "}

{"project":"Biotea","denotations":[{"id":"T510","span":{"begin":63,"end":69},"obj":"http://purl.bioontology.org/ontology/OMIM/MTHU036349"},{"id":"T513","span":{"begin":28,"end":34},"obj":"http://purl.obolibrary.org/obo/SYMP_0000005"},{"id":"T514","span":{"begin":63,"end":69},"obj":"http://purl.obolibrary.org/obo/SYMP_0000005"},{"id":"T517","span":{"begin":28,"end":34},"obj":"http://purl.bioontology.org/ontology/MEDDRA/10003591"},{"id":"T518","span":{"begin":63,"end":69},"obj":"http://purl.bioontology.org/ontology/MEDDRA/10003591"},{"id":"T521","span":{"begin":28,"end":34},"obj":"http://purl.bioontology.org/ontology/MEDLINEPLUS/C0004134"},{"id":"T522","span":{"begin":63,"end":69},"obj":"http://purl.bioontology.org/ontology/MEDLINEPLUS/C0004134"},{"id":"T525","span":{"begin":28,"end":34},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C26702"},{"id":"T526","span":{"begin":63,"end":69},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C26702"},{"id":"T529","span":{"begin":28,"end":34},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C146737"},{"id":"T530","span":{"begin":63,"end":69},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C146737"},{"id":"T533","span":{"begin":28,"end":34},"obj":"http://purl.bioontology.org/ontology/SNOMEDCT/20262006"},{"id":"T534","span":{"begin":63,"end":69},"obj":"http://purl.bioontology.org/ontology/SNOMEDCT/20262006"},{"id":"T537","span":{"begin":28,"end":34},"obj":"http://purl.bioontology.org/ontology/MESH/D001259"},{"id":"T538","span":{"begin":63,"end":69},"obj":"http://purl.bioontology.org/ontology/MESH/D001259"},{"id":"T541","span":{"begin":38,"end":42},"obj":"http://purl.obolibrary.org/obo/PR_O89094"},{"id":"T542","span":{"begin":184,"end":188},"obj":"http://purl.obolibrary.org/obo/PR_O89094"},{"id":"T543","span":{"begin":629,"end":633},"obj":"http://purl.obolibrary.org/obo/PR_O89094"},{"id":"T545","span":{"begin":38,"end":42},"obj":"http://purl.obolibrary.org/obo/PR_000005054"},{"id":"T546","span":{"begin":184,"end":188},"obj":"http://purl.obolibrary.org/obo/PR_000005054"},{"id":"T547","span":{"begin":629,"end":633},"obj":"http://purl.obolibrary.org/obo/PR_000005054"},{"id":"T549","span":{"begin":38,"end":42},"obj":"http://purl.bioontology.org/ontology/MESH/D051379"},{"id":"T550","span":{"begin":184,"end":188},"obj":"http://purl.bioontology.org/ontology/MESH/D051379"},{"id":"T551","span":{"begin":629,"end":633},"obj":"http://purl.bioontology.org/ontology/MESH/D051379"},{"id":"T553","span":{"begin":38,"end":42},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C14238"},{"id":"T554","span":{"begin":184,"end":188},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C14238"},{"id":"T555","span":{"begin":629,"end":633},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C14238"},{"id":"T557","span":{"begin":47,"end":72},"obj":"http://purl.bioontology.org/ontology/MESH/C564685"},{"id":"T559","span":{"begin":47,"end":72},"obj":"http://purl.bioontology.org/ontology/OMIM/606658"},{"id":"T564","span":{"begin":47,"end":69},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C82341"},{"id":"T566","span":{"begin":47,"end":69},"obj":"http://purl.bioontology.org/ontology/MEDDRA/10057660"},{"id":"T568","span":{"begin":47,"end":69},"obj":"http://purl.bioontology.org/ontology/OMIM/MTHU004242"},{"id":"T570","span":{"begin":47,"end":69},"obj":"http://purl.bioontology.org/ontology/SNOMEDCT/129609000"},{"id":"T572","span":{"begin":76,"end":82},"obj":"http://purl.bioontology.org/ontology/MESH/D006801"},{"id":"T573","span":{"begin":343,"end":349},"obj":"http://purl.bioontology.org/ontology/MESH/D006801"},{"id":"T575","span":{"begin":125,"end":133},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25599"},{"id":"T576","span":{"begin":671,"end":679},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25599"},{"id":"T577","span":{"begin":136,"end":142},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C121395"},{"id":"T578","span":{"begin":136,"end":142},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C122951"},{"id":"T579","span":{"begin":136,"end":142},"obj":"http://purl.bioontology.org/ontology/SNOMEDCT/24484000"},{"id":"T580","span":{"begin":136,"end":142},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C41340"},{"id":"T581","span":{"begin":136,"end":142},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C156244"},{"id":"T582","span":{"begin":136,"end":142},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C70667"},{"id":"T583","span":{"begin":143,"end":162},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C94246"},{"id":"T584","span":{"begin":143,"end":162},"obj":"http://purl.bioontology.org/ontology/SNOMEDCT/258211005"},{"id":"T585","span":{"begin":143,"end":162},"obj":"http://purl.bioontology.org/ontology/OMIM/MTHU000016"},{"id":"T586","span":{"begin":143,"end":152},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C32168"},{"id":"T588","span":{"begin":163,"end":180},"obj":"http://purl.bioontology.org/ontology/OMIM/MTHU044333"},{"id":"T589","span":{"begin":163,"end":180},"obj":"http://purl.bioontology.org/ontology/MEDDRA/10028035"},{"id":"T590","span":{"begin":163,"end":180},"obj":"http://purl.bioontology.org/ontology/SNOMEDCT/60342002"},{"id":"T591","span":{"begin":163,"end":180},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C116757"},{"id":"T592","span":{"begin":163,"end":171},"obj":"http://purl.bioontology.org/ontology/MESH/D009068"},{"id":"T593","span":{"begin":163,"end":171},"obj":"http://purl.bioontology.org/ontology/OMIM/MTHU000756"},{"id":"T594","span":{"begin":163,"end":171},"obj":"http://purl.bioontology.org/ontology/SNOMEDCT/255324009"},{"id":"T595","span":{"begin":163,"end":171},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C37994"},{"id":"T596","span":{"begin":172,"end":180},"obj":"http://purl.bioontology.org/ontology/SNOMEDCT/64572001"},{"id":"T597","span":{"begin":297,"end":305},"obj":"http://purl.bioontology.org/ontology/SNOMEDCT/64572001"},{"id":"T598","span":{"begin":332,"end":339},"obj":"http://purl.bioontology.org/ontology/SNOMEDCT/64572001"},{"id":"T599","span":{"begin":444,"end":452},"obj":"http://purl.bioontology.org/ontology/SNOMEDCT/64572001"},{"id":"T601","span":{"begin":172,"end":180},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C2991"},{"id":"T602","span":{"begin":297,"end":305},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C2991"},{"id":"T603","span":{"begin":332,"end":339},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C2991"},{"id":"T604","span":{"begin":444,"end":452},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C2991"},{"id":"T606","span":{"begin":205,"end":215},"obj":"http://purl.bioontology.org/ontology/SNOMEDCT/261904005"},{"id":"T607","span":{"begin":205,"end":215},"obj":"http://purl.bioontology.org/ontology/MESH/D007753"},{"id":"T608","span":{"begin":205,"end":215},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C37984"},{"id":"T609","span":{"begin":230,"end":236},"obj":"http://purl.bioontology.org/ontology/SNOMEDCT/13039001"},{"id":"T611","span":{"begin":230,"end":236},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25674"},{"id":"T613","span":{"begin":230,"end":236},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C69225"},{"id":"T615","span":{"begin":255,"end":261},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C142506"},{"id":"T616","span":{"begin":266,"end":273},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C15238"},{"id":"T617","span":{"begin":266,"end":273},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C17938"},{"id":"T618","span":{"begin":274,"end":280},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C71163"},{"id":"T619","span":{"begin":274,"end":280},"obj":"http://purl.bioontology.org/ontology/SNOMEDCT/52988006"},{"id":"T620","span":{"begin":274,"end":280},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C3824"},{"id":"T621","span":{"begin":281,"end":291},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C154417"},{"id":"T622","span":{"begin":332,"end":339},"obj":"http://purl.obolibrary.org/obo/OGMS_0000031"},{"id":"T623","span":{"begin":332,"end":339},"obj":"http://purl.bioontology.org/ontology/NDFRT/N0000000981"},{"id":"T624","span":{"begin":332,"end":339},"obj":"http://purl.bioontology.org/ontology/MESH/D004194"},{"id":"T625","span":{"begin":355,"end":363},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16885"},{"id":"T626","span":{"begin":617,"end":625},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16885"},{"id":"T628","span":{"begin":355,"end":363},"obj":"http://purl.bioontology.org/ontology/MESH/D009154"},{"id":"T629","span":{"begin":617,"end":625},"obj":"http://purl.bioontology.org/ontology/MESH/D009154"},{"id":"T632","span":{"begin":355,"end":363},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C45576"},{"id":"T633","span":{"begin":617,"end":625},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C45576"},{"id":"T635","span":{"begin":376,"end":381},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C45822"},{"id":"T636","span":{"begin":391,"end":398},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C94542"},{"id":"T637","span":{"begin":403,"end":420},"obj":"http://purl.bioontology.org/ontology/MESH/D017421"},{"id":"T638","span":{"begin":403,"end":420},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C17565"},{"id":"T639","span":{"begin":403,"end":411},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C43465"},{"id":"T640","span":{"begin":403,"end":411},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C89252"},{"id":"T641","span":{"begin":403,"end":411},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C13299"},{"id":"T642","span":{"begin":403,"end":411},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25673"},{"id":"T643","span":{"begin":403,"end":411},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C45374"},{"id":"T644","span":{"begin":403,"end":411},"obj":"http://purl.obolibrary.org/obo/SO_0000001"},{"id":"T646","span":{"begin":412,"end":420},"obj":"http://purl.bioontology.org/ontology/MESH/Q000032"},{"id":"T647","span":{"begin":412,"end":420},"obj":"http://purl.bioontology.org/ontology/SNOMEDCT/272389005"},{"id":"T648","span":{"begin":412,"end":420},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25391"},{"id":"T649","span":{"begin":468,"end":478},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C45826"},{"id":"T650","span":{"begin":482,"end":487},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C49963"},{"id":"T651","span":{"begin":704,"end":709},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C49963"},{"id":"T652","span":{"begin":482,"end":487},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C63552"},{"id":"T653","span":{"begin":704,"end":709},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C63552"},{"id":"T654","span":{"begin":482,"end":487},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C80261"},{"id":"T655","span":{"begin":704,"end":709},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C80261"},{"id":"T656","span":{"begin":482,"end":487},"obj":"http://purl.bioontology.org/ontology/SNOMEDCT/257297007"},{"id":"T657","span":{"begin":704,"end":709},"obj":"http://purl.bioontology.org/ontology/SNOMEDCT/257297007"},{"id":"T658","span":{"begin":506,"end":511},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C51556"},{"id":"T659","span":{"begin":611,"end":616},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C51556"},{"id":"T660","span":{"begin":726,"end":731},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C51556"},{"id":"T661","span":{"begin":782,"end":787},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C51556"},{"id":"T669","span":{"begin":506,"end":511},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C24527"},{"id":"T670","span":{"begin":611,"end":616},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C24527"},{"id":"T671","span":{"begin":726,"end":731},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C24527"},{"id":"T672","span":{"begin":782,"end":787},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C24527"},{"id":"T678","span":{"begin":506,"end":511},"obj":"http://purl.obolibrary.org/obo/PR_000009158"},{"id":"T679","span":{"begin":611,"end":616},"obj":"http://purl.obolibrary.org/obo/PR_000009158"},{"id":"T680","span":{"begin":726,"end":731},"obj":"http://purl.obolibrary.org/obo/PR_000009158"},{"id":"T681","span":{"begin":782,"end":787},"obj":"http://purl.obolibrary.org/obo/PR_000009158"},{"id":"T686","span":{"begin":528,"end":536},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C80216"},{"id":"T687","span":{"begin":537,"end":564},"obj":"http://purl.bioontology.org/ontology/MESH/D015544"},{"id":"T688","span":{"begin":537,"end":564},"obj":"http://purl.bioontology.org/ontology/NDFRT/N0000168540"},{"id":"T689","span":{"begin":537,"end":545},"obj":"http://purl.bioontology.org/ontology/NDFRT/N0000146062"},{"id":"T690","span":{"begin":537,"end":545},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C28163"},{"id":"T691","span":{"begin":537,"end":545},"obj":"http://purl.bioontology.org/ontology/NDDF/002057"},{"id":"T692","span":{"begin":537,"end":545},"obj":"http://purl.bioontology.org/ontology/NDFRT/N0000007204"},{"id":"T693","span":{"begin":537,"end":545},"obj":"http://purl.bioontology.org/ontology/MESH/D007294"},{"id":"T694","span":{"begin":537,"end":545},"obj":"http://purl.bioontology.org/ontology/SNOMEDCT/72164009"},{"id":"T695","span":{"begin":565,"end":573},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C18106"},{"id":"T696","span":{"begin":565,"end":573},"obj":"http://purl.bioontology.org/ontology/STY/T192"},{"id":"T697","span":{"begin":565,"end":573},"obj":"http://purl.bioontology.org/ontology/STY/T192"},{"id":"T698","span":{"begin":565,"end":573},"obj":"http://purl.bioontology.org/ontology/STY/T192"},{"id":"T699","span":{"begin":565,"end":573},"obj":"http://purl.bioontology.org/ontology/STY/T192"},{"id":"T700","span":{"begin":565,"end":573},"obj":"http://purl.bioontology.org/ontology/STY/T192"},{"id":"T701","span":{"begin":565,"end":573},"obj":"http://purl.bioontology.org/ontology/STY/T192"},{"id":"T702","span":{"begin":565,"end":573},"obj":"http://purl.bioontology.org/ontology/STY/T192"},{"id":"T703","span":{"begin":565,"end":573},"obj":"http://purl.bioontology.org/ontology/STY/T192"},{"id":"T704","span":{"begin":565,"end":573},"obj":"http://purl.bioontology.org/ontology/STY/T192"},{"id":"T705","span":{"begin":565,"end":573},"obj":"http://purl.bioontology.org/ontology/SNOMEDCT/116647005"},{"id":"T706","span":{"begin":590,"end":598},"obj":"http://purl.bioontology.org/ontology/SNOMEDCT/733985002"},{"id":"T707","span":{"begin":590,"end":598},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25375"},{"id":"T708","span":{"begin":599,"end":610},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C48307"},{"id":"T709","span":{"begin":599,"end":610},"obj":"http://purl.bioontology.org/ontology/SNOMEDCT/5054005"},{"id":"T710","span":{"begin":643,"end":652},"obj":"http://purl.obolibrary.org/obo/OGMS_0000023"},{"id":"T711","span":{"begin":643,"end":652},"obj":"http://purl.bioontology.org/ontology/SNOMEDCT/8116006"},{"id":"T712","span":{"begin":643,"end":652},"obj":"http://purl.bioontology.org/ontology/MESH/D010641"},{"id":"T713","span":{"begin":643,"end":652},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16977"},{"id":"T714","span":{"begin":653,"end":662},"obj":"http://purl.bioontology.org/ontology/SNOMEDCT/20323000"},{"id":"T715","span":{"begin":653,"end":662},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C49034"},{"id":"T716","span":{"begin":694,"end":700},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16866"},{"id":"T717","span":{"begin":743,"end":751},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25640"},{"id":"T718","span":{"begin":743,"end":751},"obj":"http://purl.bioontology.org/ontology/SNOMEDCT/260370003"},{"id":"T719","span":{"begin":768,"end":778},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C129474"},{"id":"T720","span":{"begin":773,"end":778},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C87192"},{"id":"T721","span":{"begin":773,"end":778},"obj":"http://purl.bioontology.org/ontology/SNOMEDCT/276625007"},{"id":"T722","span":{"begin":773,"end":778},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C25554"},{"id":"T723","span":{"begin":788,"end":798},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C80488"},{"id":"T724","span":{"begin":788,"end":798},"obj":"http://purl.bioontology.org/ontology/SNOMEDCT/706999006"},{"id":"T725","span":{"begin":788,"end":798},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C16608"},{"id":"T726","span":{"begin":788,"end":798},"obj":"http://purl.bioontology.org/ontology/SNOMEDCT/10012005"},{"id":"T489","span":{"begin":0,"end":8},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C61330"},{"id":"T490","span":{"begin":494,"end":502},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C61330"},{"id":"T491","span":{"begin":710,"end":718},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C61330"},{"id":"T493","span":{"begin":0,"end":8},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C19296"},{"id":"T494","span":{"begin":494,"end":502},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C19296"},{"id":"T495","span":{"begin":710,"end":718},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C19296"},{"id":"T497","span":{"begin":0,"end":8},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C45583"},{"id":"T498","span":{"begin":494,"end":502},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C45583"},{"id":"T499","span":{"begin":710,"end":718},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C45583"},{"id":"T501","span":{"begin":0,"end":8},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C45577"},{"id":"T502","span":{"begin":494,"end":502},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C45577"},{"id":"T503","span":{"begin":710,"end":718},"obj":"http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#C45577"},{"id":"T505","span":{"begin":0,"end":8},"obj":"http://purl.bioontology.org/ontology/SNOMEDCT/737543005"},{"id":"T506","span":{"begin":494,"end":502},"obj":"http://purl.bioontology.org/ontology/SNOMEDCT/737543005"},{"id":"T507","span":{"begin":710,"end":718},"obj":"http://purl.bioontology.org/ontology/SNOMEDCT/737543005"},{"id":"T509","span":{"begin":28,"end":34},"obj":"http://purl.bioontology.org/ontology/OMIM/MTHU036349"}],"namespaces":[{"prefix":"omim","uri":"http://purl.bioontology.org/ontology/OMIM/"},{"prefix":"pr","uri":"http://purl.obolibrary.org/obo/PR_"}],"text":"Deletion at ITPR1 Underlies Ataxia in Mice and Spinocerebellar Ataxia 15 in Humans\nITPR1 Deletion Causes Ataxia\n\nAbstract\nWe observed a severe autosomal recessive movement disorder in mice used within our laboratory. We pursued a series of experiments to define the genetic lesion underlying this disorder and to identify a cognate disease in humans with mutation at the same locus. Through linkage and sequence analysis we show here that this disorder is caused by a homozygous in-frame 18-bp deletion in Itpr1 (Itpr1Δ18/Δ18), encoding inositol 1,4,5-triphosphate receptor 1. A previously reported spontaneous Itpr1 mutation in mice causes a phenotype identical to that observed here. In both models in-frame deletion within Itpr1 leads to a decrease in the normally high level of Itpr1 expression in "}