PubMed:10097173 JSONTXT

{"project":"PMID_GLOBAL","denotations":[{"id":"T1","span":{"begin":38,"end":45},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T2","span":{"begin":168,"end":187},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T3","span":{"begin":221,"end":228},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T4","span":{"begin":320,"end":339},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T5","span":{"begin":341,"end":343},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T8","span":{"begin":382,"end":384},"obj":"DiseaseOrPhenotypicFeature"},{"id":"T11","span":{"begin":927,"end":929},"obj":"DiseaseOrPhenotypicFeature"}],"attributes":[{"id":"A1","pred":"mondo_id","subj":"T1","obj":"0019065"},{"id":"A2","pred":"mondo_id","subj":"T2","obj":"0004975"},{"id":"A3","pred":"mondo_id","subj":"T3","obj":"0019065"},{"id":"A4","pred":"mondo_id","subj":"T4","obj":"0004975"},{"id":"A5","pred":"mondo_id","subj":"T5","obj":"0004975"},{"id":"A6","pred":"mondo_id","subj":"T5","obj":"0007088"},{"id":"A7","pred":"mondo_id","subj":"T5","obj":"0011913"},{"id":"A8","pred":"mondo_id","subj":"T8","obj":"0004975"},{"id":"A9","pred":"mondo_id","subj":"T8","obj":"0007088"},{"id":"A10","pred":"mondo_id","subj":"T8","obj":"0011913"},{"id":"A11","pred":"mondo_id","subj":"T11","obj":"0004975"},{"id":"A12","pred":"mondo_id","subj":"T11","obj":"0007088"},{"id":"A13","pred":"mondo_id","subj":"T11","obj":"0011913"}],"text":"Unusual phenotypic alteration of beta amyloid precursor protein (betaAPP) maturation by a new Val-715 --\u003e Met betaAPP-770 mutation responsible for probable early-onset Alzheimer's disease.\nWe have identified a novel beta amyloid precursor protein (betaAPP) mutation (V715M-betaAPP770) that cosegregates with early-onset Alzheimer's disease (AD) in a pedigree. Unlike other familial AD-linked betaAPP mutations reported to date, overexpression of V715M-betaAPP in human HEK293 cells and murine neurons reduces total Abeta production and increases the recovery of the physiologically secreted product, APPalpha. V715M-betaAPP significantly reduces Abeta40 secretion without affecting Abeta42 production in HEK293 cells. However, a marked increase in N-terminally truncated Abeta ending at position 42 (x-42Abeta) is observed, whereas its counterpart x-40Abeta is not affected. These results suggest that, in some cases, familial AD may be associated with a reduction in the overall production of Abeta but may be caused by increased production of truncated forms of Abeta ending at the 42 position."}

{"project":"DisGeNET5_variant_disease","denotations":[{"id":"10097173-0#94#109#geners63750734","span":{"begin":94,"end":109},"obj":"geners63750734"},{"id":"10097173-0#156#187#diseaseC0750901","span":{"begin":156,"end":187},"obj":"diseaseC0750901"}],"relations":[{"id":"94#109#geners63750734156#187#diseaseC0750901","pred":"associated_with","subj":"10097173-0#94#109#geners63750734","obj":"10097173-0#156#187#diseaseC0750901"}],"text":"Unusual phenotypic alteration of beta amyloid precursor protein (betaAPP) maturation by a new Val-715 --\u003e Met betaAPP-770 mutation responsible for probable early-onset Alzheimer's disease.\nWe have identified a novel beta amyloid precursor protein (betaAPP) mutation (V715M-betaAPP770) that cosegregates with early-onset Alzheimer's disease (AD) in a pedigree. Unlike other familial AD-linked betaAPP mutations reported to date, overexpression of V715M-betaAPP in human HEK293 cells and murine neurons reduces total Abeta production and increases the recovery of the physiologically secreted product, APPalpha. V715M-betaAPP significantly reduces Abeta40 secretion without affecting Abeta42 production in HEK293 cells. However, a marked increase in N-terminally truncated Abeta ending at position 42 (x-42Abeta) is observed, whereas its counterpart x-40Abeta is not affected. These results suggest that, in some cases, familial AD may be associated with a reduction in the overall production of Abeta but may be caused by increased production of truncated forms of Abeta ending at the 42 position."}

{"project":"DisGeNET5_gene_disease","denotations":[{"id":"10097173-0#33#63#gene351","span":{"begin":33,"end":63},"obj":"gene351"},{"id":"10097173-0#65#72#gene351","span":{"begin":65,"end":72},"obj":"gene351"},{"id":"10097173-0#110#117#gene351","span":{"begin":110,"end":117},"obj":"gene351"},{"id":"10097173-0#156#187#diseaseC0750901","span":{"begin":156,"end":187},"obj":"diseaseC0750901"}],"relations":[{"id":"33#63#gene351156#187#diseaseC0750901","pred":"associated_with","subj":"10097173-0#33#63#gene351","obj":"10097173-0#156#187#diseaseC0750901"},{"id":"65#72#gene351156#187#diseaseC0750901","pred":"associated_with","subj":"10097173-0#65#72#gene351","obj":"10097173-0#156#187#diseaseC0750901"},{"id":"110#117#gene351156#187#diseaseC0750901","pred":"associated_with","subj":"10097173-0#110#117#gene351","obj":"10097173-0#156#187#diseaseC0750901"}],"text":"Unusual phenotypic alteration of beta amyloid precursor protein (betaAPP) maturation by a new Val-715 --\u003e Met betaAPP-770 mutation responsible for probable early-onset Alzheimer's disease.\nWe have identified a novel beta amyloid precursor protein (betaAPP) mutation (V715M-betaAPP770) that cosegregates with early-onset Alzheimer's disease (AD) in a pedigree. Unlike other familial AD-linked betaAPP mutations reported to date, overexpression of V715M-betaAPP in human HEK293 cells and murine neurons reduces total Abeta production and increases the recovery of the physiologically secreted product, APPalpha. V715M-betaAPP significantly reduces Abeta40 secretion without affecting Abeta42 production in HEK293 cells. However, a marked increase in N-terminally truncated Abeta ending at position 42 (x-42Abeta) is observed, whereas its counterpart x-40Abeta is not affected. These results suggest that, in some cases, familial AD may be associated with a reduction in the overall production of Abeta but may be caused by increased production of truncated forms of Abeta ending at the 42 position."}

{"project":"PubmedHPO","denotations":[{"id":"T1","span":{"begin":221,"end":228},"obj":"HP_0011034"},{"id":"T2","span":{"begin":320,"end":339},"obj":"HP_0002511"}],"text":"Unusual phenotypic alteration of beta amyloid precursor protein (betaAPP) maturation by a new Val-715 --\u003e Met betaAPP-770 mutation responsible for probable early-onset Alzheimer's disease.\nWe have identified a novel beta amyloid precursor protein (betaAPP) mutation (V715M-betaAPP770) that cosegregates with early-onset Alzheimer's disease (AD) in a pedigree. Unlike other familial AD-linked betaAPP mutations reported to date, overexpression of V715M-betaAPP in human HEK293 cells and murine neurons reduces total Abeta production and increases the recovery of the physiologically secreted product, APPalpha. V715M-betaAPP significantly reduces Abeta40 secretion without affecting Abeta42 production in HEK293 cells. However, a marked increase in N-terminally truncated Abeta ending at position 42 (x-42Abeta) is observed, whereas its counterpart x-40Abeta is not affected. These results suggest that, in some cases, familial AD may be associated with a reduction in the overall production of Abeta but may be caused by increased production of truncated forms of Abeta ending at the 42 position."}