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PubMed:24269732 JSONTXT

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PubMed_ArguminSci

Id Subject Object Predicate Lexical cue
T1 109-121 DRI_Background denotes The neuronal
T2 144-273 DRI_Background denotes (NCLs, Batten disease) are inherited neurodegenerative lysosomal storage diseases caused by mutations in several different genes.
T3 274-391 DRI_Challenge denotes Mutations in CLN5 cause a variant late-infantile human disease and some cases of juvenile and adult clinical disease.
T4 392-470 DRI_Background denotes NCLs also occur in animals, and a flock of New Zealand Borderdale sheep with a
T5 488-534 DRI_Background denotes mutation has been developed for model studies.
T6 535-757 DRI_Background denotes Dissociated mixed neural cells from CLN5-deficient foetal sheep brains contained no obvious storage bodies at plating but these accumulated rapidly in culture, mainly in microglial cells and also in neurons and astrocytes.
T7 758-904 DRI_Background denotes Accumulation was very obvious after a week, as monitored by fluorescent microscopy and immunostaining for subunit c of mitochondrial ATP synthase.
T8 905-1154 DRI_Background denotes Photography at intervals revealed the dynamic nature of the cultures and a flow of storage bodies between cells, specifically the phagocytosis of storage-body containing cells by microglia and incorporation of the storage bodies into the host cells.
T9 1155-1205 DRI_Background denotes No storage was observed in cultured control cells.
T10 1206-1379 DRI_Background denotes Transduction of cell cultures with a lentiviral vector expressing a C-terminal Myc tagged CLN5 resulted in secretion of post-translationally glycosylated and processed CLN5.
T11 1380-1519 DRI_Outcome denotes Transduction of CLN5-deficient cultures with this construct rapidly reversed storage body accumulation, to less than half in only six days.
T12 1520-1703 DRI_Background denotes These results show that storage body accumulation is reversible with enzyme correction and support the use of these cultures for testing of therapeutics prior to whole animal studies.

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 877-890 HP_0001427 denotes mitochondrial

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
24269732-1#36#39#gene4691 145-148 gene4691 denotes NCL
24269732-1#4#34#diseaseC0027877 113-143 diseaseC0027877 denotes neuronal ceroid lipofuscinoses
36#39#gene46914#34#diseaseC0027877 24269732-1#36#39#gene4691 24269732-1#4#34#diseaseC0027877 associated_with NCL,neuronal ceroid lipofuscinoses