
PMC:539297 / 162-580
Annnotations
craft-ca-core-dev
{"project":"craft-ca-core-dev","denotations":[{"id":"T65","span":{"begin":118,"end":122},"obj":"PR:000005591"},{"id":"T66","span":{"begin":155,"end":163},"obj":"PR:000005591"},{"id":"T67","span":{"begin":196,"end":209},"obj":"GO:0005739"},{"id":"T68","span":{"begin":196,"end":233},"obj":"PR:000022190"},{"id":"T69","span":{"begin":257,"end":260},"obj":"UBERON:0001017"},{"id":"T70","span":{"begin":257,"end":268},"obj":"CL:0000117"},{"id":"T71","span":{"begin":294,"end":298},"obj":"PR:000005591"},{"id":"T72","span":{"begin":314,"end":318},"obj":"NCBITaxon:10088"},{"id":"T73","span":{"begin":362,"end":369},"obj":"GO:0010467"},{"id":"T74","span":{"begin":377,"end":385},"obj":"PR:000005591"}],"text":"Background\nJNCL is a recessively inherited, childhood-onset neurodegenerative disease most-commonly caused by a ~1 kb CLN3 mutation. The resulting loss of battenin activity leads to deposition of mitochondrial ATP synthase, subunit c and a specific loss of CNS neurons. We previously generated Cln3Δex7/8 knock-in mice, which replicate the common JNCL mutation, express mutant battenin and display JNCL-like pathology."}
craft-sa-dev
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is a recessively inherited, childhood-onset neurodegenerative disease most-commonly caused by a ~1 kb CLN3 mutation. The resulting loss of battenin activity leads to deposition of mitochondrial ATP synthase, subunit c and a specific loss of CNS neurons. We previously generated Cln3Δex7/8 knock-in mice, which replicate the common JNCL mutation, express mutant battenin and display JNCL-like pathology."}
craft-ca-core-ex-dev
{"project":"craft-ca-core-ex-dev","denotations":[{"id":"T110","span":{"begin":44,"end":53},"obj":"UBERON_EXT:childhood"},{"id":"T111","span":{"begin":116,"end":117},"obj":"CHEBI_SO_EXT:base"},{"id":"T112","span":{"begin":118,"end":122},"obj":"PR_EXT:000005591"},{"id":"T113","span":{"begin":123,"end":131},"obj":"SO_EXT:sequence_alteration_entity_or_process"},{"id":"T114","span":{"begin":155,"end":163},"obj":"PR_EXT:000005591"},{"id":"T115","span":{"begin":196,"end":209},"obj":"GO:0005739"},{"id":"T116","span":{"begin":196,"end":233},"obj":"PR_EXT:000022190"},{"id":"T117","span":{"begin":210,"end":213},"obj":"CHEBI_EXT:ATP"},{"id":"T118","span":{"begin":257,"end":260},"obj":"UBERON:0001017"},{"id":"T119","span":{"begin":257,"end":268},"obj":"CL:0000117"},{"id":"T120","span":{"begin":294,"end":298},"obj":"PR_EXT:000005591"},{"id":"T121","span":{"begin":314,"end":318},"obj":"NCBITaxon:10088"},{"id":"T122","span":{"begin":352,"end":360},"obj":"SO_EXT:sequence_alteration_entity_or_process"},{"id":"T123","span":{"begin":362,"end":369},"obj":"GO:0010467"},{"id":"T124","span":{"begin":370,"end":376},"obj":"SO_EXT:sequence_altered_entity_or_alteration_process"},{"id":"T125","span":{"begin":377,"end":385},"obj":"PR_EXT:000005591"}],"text":"Background\nJNCL is a recessively inherited, childhood-onset neurodegenerative disease most-commonly caused by a ~1 kb CLN3 mutation. The resulting loss of battenin activity leads to deposition of mitochondrial ATP synthase, subunit c and a specific loss of CNS neurons. We previously generated Cln3Δex7/8 knock-in mice, which replicate the common JNCL mutation, express mutant battenin and display JNCL-like pathology."}