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PubMed:11087738 JSONTXT

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sentences

Id Subject Object Predicate Lexical cue
T1 0-181 Sentence denotes A 7-kDa prion protein (PrP) fragment, an integral component of the PrP region required for infectivity, is the major amyloid protein in Gerstmann-Sträussler-Scheinker disease A117V.
T2 182-318 Sentence denotes Gerstmann-Sträussler-Scheinker disease (GSS) is a cerebral amyloidosis associated with mutations in the prion protein (PrP) gene (PRNP).
T3 319-537 Sentence denotes The aim of this study was to characterize amyloid peptides purified from brain tissue of a patient with the A117V mutation who was Met/Val heterozygous at codon 129, Val(129) being in coupling phase with mutant Val117.
T4 538-626 Sentence denotes The major peptide extracted from amyloid fibrils was a approximately 7-kDa PrP fragment.
T5 627-798 Sentence denotes Sequence analysis and mass spectrometry showed that this fragment had ragged N and C termini, starting mainly at Gly88 and Gly90 and ending with Arg148, Glu152, or Asn153.
T6 799-919 Sentence denotes Only Val was present at positions 117 and 129, indicating that the amyloid protein originated from mutant PrP molecules.
T7 920-1086 Sentence denotes In addition to the approximately 7-kDa peptides, the amyloid fraction contained N- and C-terminal PrP fragments corresponding to residues 23-41, 191-205, and 217-228.
T8 1087-1267 Sentence denotes Fibrillogenesis in vitro with synthetic peptides corresponding to PrP fragments extracted from brain tissue showed that peptide PrP-(85-148) readily assembled into amyloid fibrils.
T9 1268-1415 Sentence denotes Peptide PrP-(191-205) also formed fibrillary structures although with different morphology, whereas peptides PrP-(23-41) and PrP-(217-228) did not.
T10 1416-1563 Sentence denotes These findings suggest that the processing of mutant PrP isoforms associated with Gerstmann-Sträussler-Scheinker disease may occur extracellularly.
T11 1564-1867 Sentence denotes It is conceivable that full-length PrP and/or large PrP peptides are deposited in the extracellular compartment, partially degraded by proteases and further digested by tissue endopeptidases, originating a approximately 7-kDa protease-resistant core that is similar in patients with different mutations.
T12 1868-1976 Sentence denotes Furthermore, the present data suggest that C-terminal fragments of PrP may participate in amyloid formation.

Glycosmos6-MAT

Id Subject Object Predicate Lexical cue
T1 392-397 http://purl.obolibrary.org/obo/MAT_0000098 denotes brain
T2 1182-1187 http://purl.obolibrary.org/obo/MAT_0000098 denotes brain

DisGeNET5_variant_disease

Id Subject Object Predicate Lexical cue
11087738-0#175#180#geners74315402 175-180 geners74315402 denotes A117V
11087738-0#136#174#diseaseC0017495 136-174 diseaseC0017495 denotes Gerstmann-Sträussler-Scheinker disease
11087738-2#108#113#geners74315402 427-432 geners74315402 denotes A117V
11087738-2#42#49#diseaseC0002726 361-368 diseaseC0002726 denotes amyloid
175#180#geners74315402136#174#diseaseC0017495 11087738-0#175#180#geners74315402 11087738-0#136#174#diseaseC0017495 associated_with A117V,Gerstmann-Sträussler-Scheinker disease
108#113#geners7431540242#49#diseaseC0002726 11087738-2#108#113#geners74315402 11087738-2#42#49#diseaseC0002726 associated_with A117V,amyloid

DisGeNET5_gene_disease

Id Subject Object Predicate Lexical cue
11087738-0#8#21#gene5621 8-21 gene5621 denotes prion protein
11087738-0#23#26#gene5621 23-26 gene5621 denotes PrP
11087738-0#67#70#gene5621 67-70 gene5621 denotes PrP
11087738-0#136#174#diseaseC0017495 136-174 diseaseC0017495 denotes Gerstmann-Sträussler-Scheinker disease
11087738-11#67#70#gene5621 1935-1938 gene5621 denotes PrP
11087738-11#90#97#diseaseC0002726 1958-1965 diseaseC0002726 denotes amyloid
8#21#gene5621136#174#diseaseC0017495 11087738-0#8#21#gene5621 11087738-0#136#174#diseaseC0017495 associated_with prion protein,Gerstmann-Sträussler-Scheinker disease
23#26#gene5621136#174#diseaseC0017495 11087738-0#23#26#gene5621 11087738-0#136#174#diseaseC0017495 associated_with PrP,Gerstmann-Sträussler-Scheinker disease
67#70#gene5621136#174#diseaseC0017495 11087738-0#67#70#gene5621 11087738-0#136#174#diseaseC0017495 associated_with PrP,Gerstmann-Sträussler-Scheinker disease
67#70#gene562190#97#diseaseC0002726 11087738-11#67#70#gene5621 11087738-11#90#97#diseaseC0002726 associated_with PrP,amyloid

PubCasesHPO

Id Subject Object Predicate Lexical cue
AB1 241-252 HP:0011034 denotes amyloidosis

DisGeNET

Id Subject Object Predicate Lexical cue
T0 8-21 gene:5621 denotes prion protein
T1 136-174 disease:C0017495 denotes Gerstmann-Sträussler-Scheinker disease
T2 23-26 gene:5621 denotes PrP
T3 136-174 disease:C0017495 denotes Gerstmann-Sträussler-Scheinker disease
T4 67-70 gene:5621 denotes PrP
T5 136-174 disease:C0017495 denotes Gerstmann-Sträussler-Scheinker disease
R1 T0 T1 associated_with prion protein,Gerstmann-Sträussler-Scheinker disease
R2 T2 T3 associated_with PrP,Gerstmann-Sträussler-Scheinker disease
R3 T4 T5 associated_with PrP,Gerstmann-Sträussler-Scheinker disease

mondo_disease

Id Subject Object Predicate Lexical cue mondo_id
T1 117-124 Disease denotes amyloid http://purl.obolibrary.org/obo/MONDO_0019065
T2 136-174 Disease denotes Gerstmann-Sträussler-Scheinker disease http://purl.obolibrary.org/obo/MONDO_0007656
T3 182-220 Disease denotes Gerstmann-Sträussler-Scheinker disease http://purl.obolibrary.org/obo/MONDO_0007656
T4 222-225 Disease denotes GSS http://purl.obolibrary.org/obo/MONDO_0007656
T5 241-252 Disease denotes amyloidosis http://purl.obolibrary.org/obo/MONDO_0019065
T6 361-368 Disease denotes amyloid http://purl.obolibrary.org/obo/MONDO_0019065
T7 571-578 Disease denotes amyloid http://purl.obolibrary.org/obo/MONDO_0019065
T8 866-873 Disease denotes amyloid http://purl.obolibrary.org/obo/MONDO_0019065
T9 973-980 Disease denotes amyloid http://purl.obolibrary.org/obo/MONDO_0019065
T10 1251-1258 Disease denotes amyloid http://purl.obolibrary.org/obo/MONDO_0019065
T11 1498-1536 Disease denotes Gerstmann-Sträussler-Scheinker disease http://purl.obolibrary.org/obo/MONDO_0007656
T12 1958-1965 Disease denotes amyloid http://purl.obolibrary.org/obo/MONDO_0019065

Anatomy-MAT

Id Subject Object Predicate Lexical cue mat_id
T1 392-397 Body_part denotes brain http://purl.obolibrary.org/obo/MAT_0000098
T2 1182-1187 Body_part denotes brain http://purl.obolibrary.org/obo/MAT_0000098

HP-phenotype

Id Subject Object Predicate Lexical cue hp_id
T1 241-252 Phenotype denotes amyloidosis HP:0011034

NCBITAXON

Id Subject Object Predicate Lexical cue db_id
T1 410-417 OrganismTaxon denotes patient 9606

Anatomy-UBERON

Id Subject Object Predicate Lexical cue uberon_id
T1 392-397 Body_part denotes brain http://purl.obolibrary.org/obo/UBERON_0000955|http://purl.obolibrary.org/obo/UBERON_6110636
T3 398-404 Body_part denotes tissue http://purl.obolibrary.org/obo/UBERON_0000479
T4 1182-1187 Body_part denotes brain http://purl.obolibrary.org/obo/UBERON_0000955|http://purl.obolibrary.org/obo/UBERON_6110636
T6 1188-1194 Body_part denotes tissue http://purl.obolibrary.org/obo/UBERON_0000479
T7 1547-1562 Body_part denotes extracellularly http://purl.obolibrary.org/obo/GO_0005576
T8 1650-1663 Body_part denotes extracellular http://purl.obolibrary.org/obo/GO_0005576
T9 1733-1739 Body_part denotes tissue http://purl.obolibrary.org/obo/UBERON_0000479