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PubMed:10075646 JSONTXT

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sentences

Id Subject Object Predicate Lexical cue
T1 0-145 Sentence denotes The biological and pathological function of the presenilin-1 Deltaexon 9 mutation is independent of its defect to undergo proteolytic processing.
T2 146-470 Sentence denotes The two homologous presenilins are key factors for the generation of amyloid beta-peptide (Abeta), since Alzheimer's disease (AD)-associated mutations enhance the production of the pathologically relevant 42-amino acid Abeta (Abeta42), and a gene knockout of presenilin-1 (PS1) significantly inhibits total Abeta production.
T3 471-635 Sentence denotes Presenilins undergo proteolytic processing within the domain encoded by exon 9, a process that may be closely related to their biological and pathological activity.
T4 636-806 Sentence denotes An AD-associated mutation within the PS1 gene deletes exon 9 (PS1Deltaexon9) due to a splicing error and results in the accumulation of the uncleaved full-length protein.
T5 807-1057 Sentence denotes We now demonstrate the unexpected finding that the pathological activity of PS1Deltaexon9 is independent of its lack to undergo proteolytic processing, but is rather due to a point mutation (S290C) occurring at the aberrant exon 8/10 splice junction.
T6 1058-1233 Sentence denotes Mutagenizing the cysteine residue at position 290 to the original serine residue completely inhibits the pathological activity in regard to the elevated production of Abeta42.
T7 1234-1396 Sentence denotes Like PS1Deltaexon9, the resulting presenilin variant (PS1Deltaexon9 C290S) accumulates as an uncleaved protein and fully replaces endogenous presenilin fragments.
T8 1397-1562 Sentence denotes Moreover, PS1Deltaexon9 C290S exhibits a significantly increased biological activity in a highly sensitive in vivo assay as compared with the AD-associated mutation.
T9 1563-1756 Sentence denotes Therefore not only the increased Abeta42 production but also the decreased biological function of PS1Deltaexon9 is due to a point mutation and independent of the lack of proteolytic processing.

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
10075646-3#37#40#gene5663 673-676 gene5663 denotes PS1
10075646-3#37#40#gene338399 673-676 gene338399 denotes PS1
10075646-3#3#5#diseaseC0002395 639-641 diseaseC0002395 denotes AD
37#40#gene56633#5#diseaseC0002395 10075646-3#37#40#gene5663 10075646-3#3#5#diseaseC0002395 associated_with PS1,AD
37#40#gene3383993#5#diseaseC0002395 10075646-3#37#40#gene338399 10075646-3#3#5#diseaseC0002395 associated_with PS1,AD

PubmedHPO

Id Subject Object Predicate Lexical cue
T1 215-222 HP_0011034 denotes amyloid
T2 251-270 HP_0002511 denotes Alzheimer's disease

mondo_disease

Id Subject Object Predicate Lexical cue mondo_id
T1 215-222 Disease denotes amyloid http://purl.obolibrary.org/obo/MONDO_0019065
T2 251-270 Disease denotes Alzheimer's disease http://purl.obolibrary.org/obo/MONDO_0004975
T3 272-274 Disease denotes AD http://purl.obolibrary.org/obo/MONDO_0004975
T4 639-641 Disease denotes AD http://purl.obolibrary.org/obo/MONDO_0004975
T5 1539-1541 Disease denotes AD http://purl.obolibrary.org/obo/MONDO_0004975

HP-phenotype

Id Subject Object Predicate Lexical cue hp_id
T1 251-270 Phenotype denotes Alzheimer's disease HP:0002511
T2 272-274 Phenotype denotes AD HP:0002511
T3 639-641 Phenotype denotes AD HP:0002511
T4 1487-1503 Phenotype denotes highly sensitive HP:0041092
T5 1539-1541 Phenotype denotes AD HP:0002511

Anatomy-UBERON

Id Subject Object Predicate Lexical cue uberon_id
T1 1048-1056 Body_part denotes junction http://purl.obolibrary.org/obo/UBERON_0007651