PMC:539297 / 3037-3705 JSONTXT

{"project":"craft-ca-core-dev","denotations":[{"id":"T564","span":{"begin":33,"end":41},"obj":"PR:000005591"},{"id":"T565","span":{"begin":78,"end":89},"obj":"SO:0000704"},{"id":"T566","span":{"begin":103,"end":108},"obj":"NCBITaxon:10088"},{"id":"T567","span":{"begin":116,"end":120},"obj":"PR:000005591"},{"id":"T568","span":{"begin":136,"end":140},"obj":"NCBITaxon:10088"},{"id":"T569","span":{"begin":183,"end":190},"obj":"GO:0010467"},{"id":"T570","span":{"begin":214,"end":222},"obj":"PR:000005591"},{"id":"T571","span":{"begin":223,"end":230},"obj":"SO:0001060"},{"id":"T572","span":{"begin":255,"end":265},"obj":"GO:0042571"},{"id":"T573","span":{"begin":310,"end":314},"obj":"PR:000005591"},{"id":"T574","span":{"begin":330,"end":334},"obj":"NCBITaxon:10088"},{"id":"T575","span":{"begin":381,"end":390},"obj":"UBERON:0012101"},{"id":"T576","span":{"begin":385,"end":390},"obj":"GO:0007567"},{"id":"T577","span":{"begin":400,"end":409},"obj":"PR:000022190"},{"id":"T578","span":{"begin":459,"end":467},"obj":"CL:0000540"},{"id":"T579","span":{"begin":590,"end":603},"obj":"GO:0005739"},{"id":"T580","span":{"begin":590,"end":613},"obj":"PR:000022190"},{"id":"T581","span":{"begin":656,"end":659},"obj":"UBERON:0001017"},{"id":"T582","span":{"begin":656,"end":667},"obj":"CL:0000117"}],"text":"To explore JNCL pathogenesis and battenin function, we previously generated a genetically precise JNCL mouse model. Cln3Δex7/8 knock-in mice harbor the ~1 kb common JNCL mutation and express a non-truncated mutant battenin isoform that is detectable with antibodies recognizing C-terminal epitopes. Homozygous Cln3Δex7/8 knock-in mice exhibit a progressive JNCL-like disease, with perinatal onset of subunit c deposition in many cell types and later onset of neuronal dysfunction and behavioral deficits [12]. These findings suggest that the major JNCL defect leads to abnormal turnover of mitochondrial subunit c, in a manner that selectively compromises CNS neurons."}

{"project":"craft-sa-dev","denotations":[{"id":"T948","span":{"begin":0,"end":2},"obj":"TO"},{"id":"T949","span":{"begin":3,"end":10},"obj":"VB"},{"id":"T950","span":{"begin":66,"end":75},"obj":"VBD"},{"id":"T951","span":{"begin":11,"end":15},"obj":"NN"},{"id":"T952","span":{"begin":16,"end":28},"obj":"NN"},{"id":"T953","span":{"begin":29,"end":32},"obj":"CC"},{"id":"T954","span":{"begin":33,"end":41},"obj":"NN"},{"id":"T955","span":{"begin":42,"end":50},"obj":"NN"},{"id":"T956","span":{"begin":50,"end":52},"obj":","},{"id":"T957","span":{"begin":52,"end":54},"obj":"PRP"},{"id":"T958","span":{"begin":55,"end":65},"obj":"RB"},{"id":"T959","span":{"begin":76,"end":77},"obj":"DT"},{"id":"T960","span":{"begin":109,"end":114},"obj":"NN"},{"id":"T961","span":{"begin":78,"end":89},"obj":"RB"},{"id":"T962","span":{"begin":90,"end":97},"obj":"JJ"},{"id":"T963","span":{"begin":98,"end":102},"obj":"NN"},{"id":"T964","span":{"begin":103,"end":108},"obj":"NN"},{"id":"T965","span":{"begin":114,"end":115},"obj":"."},{"id":"T966","span":{"begin":115,"end":298},"obj":"sentence"},{"id":"T967","span":{"begin":116,"end":124},"obj":"NN"},{"id":"T968","span":{"begin":136,"end":140},"obj":"NNS"},{"id":"T969","span":{"begin":124,"end":125},"obj":"HYPH"},{"id":"T970","span":{"begin":125,"end":126},"obj":"CD"},{"id":"T971","span":{"begin":127,"end":132},"obj":"VB"},{"id":"T972","span":{"begin":132,"end":133},"obj":"HYPH"},{"id":"T973","span":{"begin":133,"end":135},"obj":"RP"},{"id":"T974","span":{"begin":141,"end":147},"obj":"VBP"},{"id":"T975","span":{"begin":148,"end":151},"obj":"DT"},{"id":"T976","span":{"begin":170,"end":178},"obj":"NN"},{"id":"T977","span":{"begin":152,"end":153},"obj":"SYM"},{"id":"T978","span":{"begin":153,"end":154},"obj":"CD"},{"id":"T979","span":{"begin":155,"end":157},"obj":"NN"},{"id":"T980","span":{"begin":158,"end":164},"obj":"JJ"},{"id":"T981","span":{"begin":165,"end":169},"obj":"NN"},{"id":"T982","span":{"begin":179,"end":182},"obj":"CC"},{"id":"T983","span":{"begin":183,"end":190},"obj":"VBP"},{"id":"T984","span":{"begin":191,"end":192},"obj":"DT"},{"id":"T985","span":{"begin":223,"end":230},"obj":"NN"},{"id":"T986","span":{"begin":193,"end":206},"obj":"JJ"},{"id":"T987","span":{"begin":207,"end":213},"obj":"NN"},{"id":"T988","span":{"begin":214,"end":222},"obj":"NN"},{"id":"T989","span":{"begin":231,"end":235},"obj":"WDT"},{"id":"T990","span":{"begin":236,"end":238},"obj":"VBZ"},{"id":"T991","span":{"begin":239,"end":249},"obj":"JJ"},{"id":"T992","span":{"begin":250,"end":254},"obj":"IN"},{"id":"T993","span":{"begin":255,"end":265},"obj":"NNS"},{"id":"T994","span":{"begin":266,"end":277},"obj":"VBG"},{"id":"T995","span":{"begin":278,"end":279},"obj":"NN"},{"id":"T996","span":{"begin":280,"end":288},"obj":"JJ"},{"id":"T997","span":{"begin":279,"end":280},"obj":"HYPH"},{"id":"T998","span":{"begin":289,"end":297},"obj":"NNS"},{"id":"T999","span":{"begin":297,"end":298},"obj":"."},{"id":"T1000","span":{"begin":298,"end":509},"obj":"sentence"},{"id":"T1001","span":{"begin":299,"end":309},"obj":"JJ"},{"id":"T1002","span":{"begin":330,"end":334},"obj":"NNS"},{"id":"T1003","span":{"begin":310,"end":318},"obj":"NN"},{"id":"T1004","span":{"begin":318,"end":319},"obj":"HYPH"},{"id":"T1005","span":{"begin":319,"end":320},"obj":"CD"},{"id":"T1006","span":{"begin":321,"end":326},"obj":"VB"},{"id":"T1007","span":{"begin":326,"end":327},"obj":"HYPH"},{"id":"T1008","span":{"begin":327,"end":329},"obj":"RP"},{"id":"T1009","span":{"begin":335,"end":342},"obj":"VBP"},{"id":"T1010","span":{"begin":343,"end":344},"obj":"DT"},{"id":"T1011","span":{"begin":367,"end":374},"obj":"NN"},{"id":"T1012","span":{"begin":345,"end":356},"obj":"JJ"},{"id":"T1013","span":{"begin":357,"end":361},"obj":"NN"},{"id":"T1014","span":{"begin":362,"end":366},"obj":"JJ"},{"id":"T1015","span":{"begin":361,"end":362},"obj":"HYPH"},{"id":"T1016","span":{"begin":374,"end":376},"obj":","},{"id":"T1017","span":{"begin":376,"end":380},"obj":"IN"},{"id":"T1018","span":{"begin":381,"end":390},"obj":"JJ"},{"id":"T1019","span":{"begin":391,"end":396},"obj":"NN"},{"id":"T1020","span":{"begin":397,"end":399},"obj":"IN"},{"id":"T1021","span":{"begin":400,"end":407},"obj":"NN"},{"id":"T1022","span":{"begin":408,"end":409},"obj":"NN"},{"id":"T1023","span":{"begin":410,"end":420},"obj":"NN"},{"id":"T1024","span":{"begin":421,"end":423},"obj":"IN"},{"id":"T1025","span":{"begin":424,"end":428},"obj":"JJ"},{"id":"T1026","span":{"begin":434,"end":439},"obj":"NNS"},{"id":"T1027","span":{"begin":429,"end":433},"obj":"NN"},{"id":"T1028","span":{"begin":440,"end":443},"obj":"CC"},{"id":"T1029","span":{"begin":444,"end":449},"obj":"JJ"},{"id":"T1030","span":{"begin":450,"end":455},"obj":"NN"},{"id":"T1031","span":{"begin":456,"end":458},"obj":"IN"},{"id":"T1032","span":{"begin":459,"end":467},"obj":"JJ"},{"id":"T1033","span":{"begin":468,"end":479},"obj":"NN"},{"id":"T1034","span":{"begin":480,"end":483},"obj":"CC"},{"id":"T1035","span":{"begin":484,"end":494},"obj":"JJ"},{"id":"T1061","span":{"begin":620,"end":626},"obj":"NN"},{"id":"T1036","span":{"begin":495,"end":503},"obj":"NNS"},{"id":"T1037","span":{"begin":504,"end":505},"obj":"-LRB-"},{"id":"T1038","span":{"begin":505,"end":507},"obj":"CD"},{"id":"T1039","span":{"begin":507,"end":508},"obj":"-RRB-"},{"id":"T1040","span":{"begin":508,"end":509},"obj":"."},{"id":"T1041","span":{"begin":509,"end":668},"obj":"sentence"},{"id":"T1042","span":{"begin":510,"end":515},"obj":"DT"},{"id":"T1043","span":{"begin":516,"end":524},"obj":"NNS"},{"id":"T1044","span":{"begin":525,"end":532},"obj":"VBP"},{"id":"T1045","span":{"begin":533,"end":537},"obj":"IN"},{"id":"T1046","span":{"begin":560,"end":565},"obj":"VBZ"},{"id":"T1047","span":{"begin":538,"end":541},"obj":"DT"},{"id":"T1048","span":{"begin":553,"end":559},"obj":"NN"},{"id":"T1049","span":{"begin":542,"end":547},"obj":"JJ"},{"id":"T1050","span":{"begin":548,"end":552},"obj":"NN"},{"id":"T1051","span":{"begin":566,"end":568},"obj":"IN"},{"id":"T1052","span":{"begin":569,"end":577},"obj":"JJ"},{"id":"T1053","span":{"begin":578,"end":586},"obj":"NN"},{"id":"T1054","span":{"begin":587,"end":589},"obj":"IN"},{"id":"T1055","span":{"begin":590,"end":603},"obj":"JJ"},{"id":"T1056","span":{"begin":612,"end":613},"obj":"NN"},{"id":"T1057","span":{"begin":604,"end":611},"obj":"NN"},{"id":"T1058","span":{"begin":613,"end":615},"obj":","},{"id":"T1059","span":{"begin":615,"end":617},"obj":"IN"},{"id":"T1060","span":{"begin":618,"end":619},"obj":"DT"},{"id":"T1062","span":{"begin":627,"end":631},"obj":"WDT"},{"id":"T1063","span":{"begin":644,"end":655},"obj":"VBZ"},{"id":"T1064","span":{"begin":632,"end":643},"obj":"RB"},{"id":"T1065","span":{"begin":656,"end":659},"obj":"NN"},{"id":"T1066","span":{"begin":660,"end":667},"obj":"NNS"},{"id":"T1067","span":{"begin":667,"end":668},"obj":"."}],"relations":[{"id":"R504","pred":"aux","subj":"T948","obj":"T949"},{"id":"R505","pred":"advcl","subj":"T949","obj":"T950"},{"id":"R506","pred":"compound","subj":"T951","obj":"T952"},{"id":"R507","pred":"dobj","subj":"T952","obj":"T949"},{"id":"R508","pred":"cc","subj":"T953","obj":"T952"},{"id":"R509","pred":"compound","subj":"T954","obj":"T955"},{"id":"R510","pred":"conj","subj":"T955","obj":"T952"},{"id":"R511","pred":"punct","subj":"T956","obj":"T950"},{"id":"R512","pred":"nsubj","subj":"T957","obj":"T950"},{"id":"R513","pred":"advmod","subj":"T958","obj":"T950"},{"id":"R514","pred":"det","subj":"T959","obj":"T960"},{"id":"R516","pred":"advmod","subj":"T961","obj":"T962"},{"id":"R517","pred":"amod","subj":"T962","obj":"T960"},{"id":"R518","pred":"compound","subj":"T963","obj":"T960"},{"id":"R519","pred":"compound","subj":"T964","obj":"T960"},{"id":"R520","pred":"punct","subj":"T965","obj":"T950"},{"id":"R521","pred":"nmod","subj":"T967","obj":"T968"},{"id":"R522","pred":"nsubj","subj":"T968","obj":"T974"},{"id":"R523","pred":"punct","subj":"T969","obj":"T967"},{"id":"R524","pred":"nummod","subj":"T970","obj":"T967"},{"id":"R525","pred":"amod","subj":"T971","obj":"T968"},{"id":"R526","pred":"punct","subj":"T972","obj":"T971"},{"id":"R527","pred":"prt","subj":"T973","obj":"T971"},{"id":"R528","pred":"det","subj":"T975","obj":"T976"},{"id":"R529","pred":"dobj","subj":"T976","obj":"T974"},{"id":"R530","pred":"punct","subj":"T977","obj":"T978"},{"id":"R531","pred":"nummod","subj":"T978","obj":"T979"},{"id":"R532","pred":"nmod","subj":"T979","obj":"T976"},{"id":"R533","pred":"amod","subj":"T980","obj":"T976"},{"id":"R534","pred":"compound","subj":"T981","obj":"T976"},{"id":"R535","pred":"cc","subj":"T982","obj":"T974"},{"id":"R536","pred":"conj","subj":"T983","obj":"T974"},{"id":"R537","pred":"det","subj":"T984","obj":"T985"},{"id":"R538","pred":"dobj","subj":"T985","obj":"T983"},{"id":"R539","pred":"amod","subj":"T986","obj":"T985"},{"id":"R540","pred":"compound","subj":"T987","obj":"T988"},{"id":"R541","pred":"compound","subj":"T988","obj":"T985"},{"id":"R542","pred":"dep","subj":"T989","obj":"T990"},{"id":"R543","pred":"relcl","subj":"T990","obj":"T985"},{"id":"R544","pred":"acomp","subj":"T991","obj":"T990"},{"id":"R545","pred":"prep","subj":"T992","obj":"T990"},{"id":"R546","pred":"pobj","subj":"T993","obj":"T992"},{"id":"R547","pred":"acl","subj":"T994","obj":"T993"},{"id":"R548","pred":"npadvmod","subj":"T995","obj":"T996"},{"id":"R549","pred":"amod","subj":"T996","obj":"T998"},{"id":"R550","pred":"punct","subj":"T997","obj":"T996"},{"id":"R551","pred":"dobj","subj":"T998","obj":"T994"},{"id":"R552","pred":"punct","subj":"T999","obj":"T974"},{"id":"R553","pred":"amod","subj":"T1001","obj":"T1002"},{"id":"R554","pred":"nsubj","subj":"T1002","obj":"T1009"},{"id":"R555","pred":"nmod","subj":"T1003","obj":"T1002"},{"id":"R556","pred":"punct","subj":"T1004","obj":"T1003"},{"id":"R557","pred":"nummod","subj":"T1005","obj":"T1003"},{"id":"R558","pred":"amod","subj":"T1006","obj":"T1002"},{"id":"R559","pred":"punct","subj":"T1007","obj":"T1006"},{"id":"R560","pred":"prt","subj":"T1008","obj":"T1006"},{"id":"R561","pred":"det","subj":"T1010","obj":"T1011"},{"id":"R563","pred":"amod","subj":"T1012","obj":"T1011"},{"id":"R564","pred":"npadvmod","subj":"T1013","obj":"T1014"},{"id":"R565","pred":"amod","subj":"T1014","obj":"T1011"},{"id":"R566","pred":"punct","subj":"T1015","obj":"T1014"},{"id":"R567","pred":"punct","subj":"T1016","obj":"T1011"},{"id":"R568","pred":"prep","subj":"T1017","obj":"T1011"},{"id":"R569","pred":"amod","subj":"T1018","obj":"T1019"},{"id":"R570","pred":"pobj","subj":"T1019","obj":"T1017"},{"id":"R571","pred":"prep","subj":"T1020","obj":"T1019"},{"id":"R572","pred":"compound","subj":"T1021","obj":"T1022"},{"id":"R573","pred":"compound","subj":"T1022","obj":"T1023"},{"id":"R574","pred":"pobj","subj":"T1023","obj":"T1020"},{"id":"R575","pred":"prep","subj":"T1024","obj":"T1023"},{"id":"R576","pred":"amod","subj":"T1025","obj":"T1026"},{"id":"R577","pred":"pobj","subj":"T1026","obj":"T1024"},{"id":"R578","pred":"compound","subj":"T1027","obj":"T1026"},{"id":"R579","pred":"cc","subj":"T1028","obj":"T1019"},{"id":"R580","pred":"amod","subj":"T1029","obj":"T1030"},{"id":"R581","pred":"conj","subj":"T1030","obj":"T1019"},{"id":"R582","pred":"prep","subj":"T1031","obj":"T1030"},{"id":"R583","pred":"amod","subj":"T1032","obj":"T1033"},{"id":"R584","pred":"pobj","subj":"T1033","obj":"T1031"},{"id":"R585","pred":"cc","subj":"T1034","obj":"T1033"},{"id":"R586","pred":"amod","subj":"T1035","obj":"T1036"},{"id":"R587","pred":"conj","subj":"T1036","obj":"T1033"},{"id":"R588","pred":"punct","subj":"T1037","obj":"T1038"},{"id":"R589","pred":"parataxis","subj":"T1038","obj":"T1009"},{"id":"R590","pred":"punct","subj":"T1039","obj":"T1038"},{"id":"R591","pred":"punct","subj":"T1040","obj":"T1009"},{"id":"R592","pred":"det","subj":"T1042","obj":"T1043"},{"id":"R593","pred":"nsubj","subj":"T1043","obj":"T1044"},{"id":"R594","pred":"mark","subj":"T1045","obj":"T1046"},{"id":"R596","pred":"det","subj":"T1047","obj":"T1048"},{"id":"R597","pred":"nsubj","subj":"T1048","obj":"T1046"},{"id":"R598","pred":"amod","subj":"T1049","obj":"T1048"},{"id":"R599","pred":"compound","subj":"T1050","obj":"T1048"},{"id":"R600","pred":"prep","subj":"T1051","obj":"T1046"},{"id":"R601","pred":"amod","subj":"T1052","obj":"T1053"},{"id":"R602","pred":"pobj","subj":"T1053","obj":"T1051"},{"id":"R603","pred":"prep","subj":"T1054","obj":"T1053"},{"id":"R604","pred":"amod","subj":"T1055","obj":"T1056"},{"id":"R605","pred":"pobj","subj":"T1056","obj":"T1054"},{"id":"R606","pred":"compound","subj":"T1057","obj":"T1056"},{"id":"R607","pred":"punct","subj":"T1058","obj":"T1046"},{"id":"R608","pred":"prep","subj":"T1059","obj":"T1046"},{"id":"R609","pred":"det","subj":"T1060","obj":"T1061"},{"id":"R610","pred":"pobj","subj":"T1061","obj":"T1059"},{"id":"R611","pred":"dep","subj":"T1062","obj":"T1063"},{"id":"R612","pred":"relcl","subj":"T1063","obj":"T1061"},{"id":"R613","pred":"advmod","subj":"T1064","obj":"T1063"},{"id":"R614","pred":"compound","subj":"T1065","obj":"T1066"},{"id":"R615","pred":"dobj","subj":"T1066","obj":"T1063"},{"id":"R616","pred":"punct","subj":"T1067","obj":"T1044"},{"id":"R515","pred":"dobj","subj":"T960","obj":"T950"},{"id":"R562","pred":"dobj","subj":"T1011","obj":"T1009"},{"id":"R595","pred":"ccomp","subj":"T1046","obj":"T1044"}],"text":"To explore JNCL pathogenesis and battenin function, we previously generated a genetically precise JNCL mouse model. Cln3Δex7/8 knock-in mice harbor the ~1 kb common JNCL mutation and express a non-truncated mutant battenin isoform that is detectable with antibodies recognizing C-terminal epitopes. Homozygous Cln3Δex7/8 knock-in mice exhibit a progressive JNCL-like disease, with perinatal onset of subunit c deposition in many cell types and later onset of neuronal dysfunction and behavioral deficits [12]. These findings suggest that the major JNCL defect leads to abnormal turnover of mitochondrial subunit c, in a manner that selectively compromises CNS neurons."}

{"project":"craft-ca-core-ex-dev","denotations":[{"id":"T649","span":{"begin":33,"end":41},"obj":"PR_EXT:000005591"},{"id":"T650","span":{"begin":78,"end":89},"obj":"SO_EXT:0000704"},{"id":"T651","span":{"begin":103,"end":108},"obj":"NCBITaxon:10088"},{"id":"T652","span":{"begin":116,"end":120},"obj":"PR_EXT:000005591"},{"id":"T653","span":{"begin":136,"end":140},"obj":"NCBITaxon:10088"},{"id":"T654","span":{"begin":156,"end":157},"obj":"CHEBI_SO_EXT:base"},{"id":"T655","span":{"begin":170,"end":178},"obj":"SO_EXT:sequence_alteration_entity_or_process"},{"id":"T656","span":{"begin":183,"end":190},"obj":"GO:0010467"},{"id":"T657","span":{"begin":197,"end":206},"obj":"SO_EXT:sequence_truncation_process"},{"id":"T658","span":{"begin":207,"end":213},"obj":"SO_EXT:sequence_altered_entity_or_alteration_process"},{"id":"T659","span":{"begin":214,"end":222},"obj":"PR_EXT:000005591"},{"id":"T660","span":{"begin":223,"end":230},"obj":"SO_EXT:0001060"},{"id":"T661","span":{"begin":255,"end":265},"obj":"GO:0042571"},{"id":"T662","span":{"begin":278,"end":288},"obj":"CHEBI_SO_EXT:C_terminus_or_C_terminal_region"},{"id":"T663","span":{"begin":289,"end":297},"obj":"CHEBI_SO_EXT:epitope"},{"id":"T664","span":{"begin":310,"end":314},"obj":"PR_EXT:000005591"},{"id":"T665","span":{"begin":330,"end":334},"obj":"NCBITaxon:10088"},{"id":"T666","span":{"begin":381,"end":390},"obj":"UBERON:0012101"},{"id":"T667","span":{"begin":385,"end":390},"obj":"GO:0007567"},{"id":"T668","span":{"begin":400,"end":409},"obj":"PR_EXT:000022190"},{"id":"T669","span":{"begin":429,"end":433},"obj":"CL_GO_EXT:cell"},{"id":"T670","span":{"begin":459,"end":467},"obj":"CL:0000540"},{"id":"T671","span":{"begin":484,"end":494},"obj":"GO_PATO_EXT:biological_behavior"},{"id":"T672","span":{"begin":590,"end":603},"obj":"GO:0005739"},{"id":"T673","span":{"begin":590,"end":613},"obj":"PR_EXT:000022190"},{"id":"T674","span":{"begin":656,"end":659},"obj":"UBERON:0001017"},{"id":"T675","span":{"begin":656,"end":667},"obj":"CL:0000117"}],"text":"To explore JNCL pathogenesis and battenin function, we previously generated a genetically precise JNCL mouse model. Cln3Δex7/8 knock-in mice harbor the ~1 kb common JNCL mutation and express a non-truncated mutant battenin isoform that is detectable with antibodies recognizing C-terminal epitopes. Homozygous Cln3Δex7/8 knock-in mice exhibit a progressive JNCL-like disease, with perinatal onset of subunit c deposition in many cell types and later onset of neuronal dysfunction and behavioral deficits [12]. These findings suggest that the major JNCL defect leads to abnormal turnover of mitochondrial subunit c, in a manner that selectively compromises CNS neurons."}

{"project":"2_test","denotations":[{"id":"15588329-12374761-12950142","span":{"begin":505,"end":507},"obj":"12374761"}],"text":"To explore JNCL pathogenesis and battenin function, we previously generated a genetically precise JNCL mouse model. Cln3Δex7/8 knock-in mice harbor the ~1 kb common JNCL mutation and express a non-truncated mutant battenin isoform that is detectable with antibodies recognizing C-terminal epitopes. Homozygous Cln3Δex7/8 knock-in mice exhibit a progressive JNCL-like disease, with perinatal onset of subunit c deposition in many cell types and later onset of neuronal dysfunction and behavioral deficits [12]. These findings suggest that the major JNCL defect leads to abnormal turnover of mitochondrial subunit c, in a manner that selectively compromises CNS neurons."}