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PubMed:25905915 JSONTXT

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PubMed_ArguminSci

Id Subject Object Predicate Lexical cue
T1 128-230 DRI_Approach denotes Cysteine string protein (CSPα) is a presynaptic J protein co-chaperone that opposes neurodegeneration.
T2 231-330 DRI_Background denotes Mutations in CSPα (i.e., Leu115 to Arg substitution or deletion (Δ) of Leu116) cause adult neuronal
T3 353-410 DRI_Background denotes (ANCL), a dominantly inherited neurodegenerative disease.
T4 411-605 DRI_Outcome denotes We have previously demonstrated that CSPα limits the expression of large conductance, calcium-activated K+ (BK) channels in neurons, which may impact synaptic excitability and neurotransmission.
T5 606-773 DRI_Outcome denotes Here we show by western blot analysis that expression of the pore-forming BKα subunit is elevated ~2.5 fold in the post-mortem cortex of a 36-year-old patient with the
T6 787-796 DRI_Outcome denotes mutation.
T7 797-934 DRI_Outcome denotes Moreover, we find that the increase in BKα subunit level is selective for ANCL and not a general feature of neurodegenerative conditions.
T8 935-1128 DRI_Background denotes While reduced levels of CSPα are found in some postmortem cortex specimens from Alzheimer's disease patients, we find no concomitant increase in BKα subunit expression in Alzheimer's specimens.
T9 1129-1247 DRI_Approach denotes Both CSPα monomer and oligomer expression are reduced in synaptosomes prepared from ANCL cortex compared with control.
T10 1248-1314 DRI_Background denotes In a cultured neuronal cell model, CSPα oligomers are short lived.
T11 1315-1551 DRI_Outcome denotes The results of this study indicate that the Leu116∆ mutation leads to elevated BKα subunit levels in human cortex and extend our initial work in rodent models demonstrating the modulation of BKα subunit levels by the same CSPα mutation.
T12 1552-1731 DRI_Challenge denotes While the precise sequence of pathogenic events still remains to be elucidated, our findings suggest that dysregulation of BK channels may contribute to neurodegeneration in ANCL.

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 212-229 HP_0002180 denotes neurodegeneration
T2 1015-1034 HP_0002511 denotes Alzheimer's disease
T3 1705-1722 HP_0002180 denotes neurodegeneration

DisGeNET5_variant_disease

Id Subject Object Predicate Lexical cue
25905915-2#25#38#geners387907043 256-269 geners387907043 denotes Leu115 to Arg
25905915-2#85#121#diseaseC0022797 316-352 diseaseC0022797 denotes adult neuronal ceroid lipofuscinosis
25905915-2#123#127#diseaseC0022797 354-358 diseaseC0022797 denotes ANCL
25905915-2#153#178#diseaseC0524851 384-409 diseaseC0524851 denotes neurodegenerative disease
25#38#geners38790704385#121#diseaseC0022797 25905915-2#25#38#geners387907043 25905915-2#85#121#diseaseC0022797 associated_with Leu115 to Arg,adult neuronal ceroid lipofuscinosis
25#38#geners387907043123#127#diseaseC0022797 25905915-2#25#38#geners387907043 25905915-2#123#127#diseaseC0022797 associated_with Leu115 to Arg,ANCL
25#38#geners387907043153#178#diseaseC0524851 25905915-2#25#38#geners387907043 25905915-2#153#178#diseaseC0524851 associated_with Leu115 to Arg,neurodegenerative disease

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
25905915-0#69#80#gene3778 69-80 gene3778 denotes BK) Channel
25905915-0#96#126#diseaseC0027877 96-126 diseaseC0027877 denotes Neuronal Ceroid Lipofuscinosis
25905915-2#13#17#gene80331 244-248 gene80331 denotes CSPα
25905915-2#153#178#diseaseC0524851 384-409 diseaseC0524851 denotes neurodegenerative disease
25905915-6#24#28#gene80331 959-963 gene80331 denotes CSPα
25905915-6#80#99#diseaseC0002395 1015-1034 diseaseC0002395 denotes Alzheimer's disease
25905915-7#5#9#gene80331 1134-1138 gene80331 denotes CSPα
25905915-7#84#88#diseaseC0022797 1213-1217 diseaseC0022797 denotes ANCL
69#80#gene377896#126#diseaseC0027877 25905915-0#69#80#gene3778 25905915-0#96#126#diseaseC0027877 associated_with BK) Channel,Neuronal Ceroid Lipofuscinosis
13#17#gene80331153#178#diseaseC0524851 25905915-2#13#17#gene80331 25905915-2#153#178#diseaseC0524851 associated_with CSPα,neurodegenerative disease
24#28#gene8033180#99#diseaseC0002395 25905915-6#24#28#gene80331 25905915-6#80#99#diseaseC0002395 associated_with CSPα,Alzheimer's disease
5#9#gene8033184#88#diseaseC0022797 25905915-7#5#9#gene80331 25905915-7#84#88#diseaseC0022797 associated_with CSPα,ANCL