APP, amyloid beta precursor protein, 351

N. diseases: 485; N. variants: 114
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.400 Biomarker disease BEFREE Unexpectedly, the antibodies to the carboxyl terminus of beta APP labeled amyloid-containing senile plaques in AD brain. 3140239 1988
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.400 AlteredExpression disease BEFREE Overexpression of amyloid precursor protein A4 (beta-amyloid) immunoreactivity in genetically transformed cells: implications for a cellular model of Alzheimer amyloidosis. 2563163 1989
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.400 GeneticVariation disease BEFREE Whereas in Down's syndrome, over-expression of the gene coding for PreA4 is likely to be responsible for the premature development of cerebral amyloidosis, a similar mechanism is yet to be demonstrated in Alzheimer's disease. 2569883 1989
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.400 Biomarker disease BEFREE The amyloid forming beta-peptide of Alzheimer's disease is synthesized as part of a larger integral membrane precursor protein (beta APP) of which three alternatively spliced versions of 695, 751, and 770 amino acids have been described. 1968460 1990
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.400 Biomarker disease BEFREE Cellular and animal models have been developed to study the nature of APP processing and the biological and behavioral consequences of beta/A4 amyloidosis. 1627458 1992
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.400 GeneticVariation disease BEFREE Evidence suggests that generation of such fibrils may be involved in the etiology of this disease, since mutations in the coding region of the beta/A4 amyloid precursor protein (APP) gene segregate with familial cerebral amyloidoses, including familial Alzheimer's disease. 1574806 1992
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.400 GeneticVariation disease BEFREE Studies of the beta-amyloid precursor protein (APP), which gives rise to beta-amyloid, are rapidly leading to a better understanding of the biochemical basis of the disease--a prerequisite for rational drug development. 8140621 1994
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.400 AlteredExpression disease BEFREE The relative amount of amyloid-containing fragments increased dramatically during expression of the clinical mutants, while it decreased strongly when the mouse form of APP was expressed. 7588622 1995
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.400 Biomarker disease BEFREE Artifactual strain-specific signs of incipient brain amyloidosis in APP transgenic mice. 8744403 1996
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.400 Biomarker disease BEFREE One of them is beta-APP, the precursor of the beta-amyloid found in the characteristic neuritic plaques present in the brains of AD patients. 8901624 1996
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.400 Biomarker disease BEFREE This result will provide a model to investigate the beta APP processing mechanism in vivo and a clue to generate possible A beta amyloidosis in animal brains. 8964522 1996
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.400 Biomarker disease BEFREE An important gap in our understanding of the pathogenesis of the amyloidoses is the identification of the cellular events that lead from synthesis of an amyloid precursor protein to its conversion to the amyloid fiber subunit. 10524281 1999
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.400 GeneticVariation disease BEFREE Presentation of amyloidosis in carriers of the codon 692 mutation in the amyloid precursor protein gene (APP692). 11004129 2000
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.400 GeneticVariation disease BEFREE Differential expression of the amyloid precursor protein gene (APP) may be important in the development of amyloidosis in Alzheimer's disease (AD) and experimentally in the brain's response to injury. 10675649 2000
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.400 Biomarker disease BEFREE Evidence for seeding of beta -amyloid by intracerebral infusion of Alzheimer brain extracts in beta -amyloid precursor protein-transgenic mice. 10804202 2000
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.400 Biomarker disease BEFREE These mutations alter the processing of the amyloid precursor protein (APP) by increasing the production of the fibrillogenic amyloid fragment, Abeta1-42/43. 10607841 2000
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.400 Biomarker disease BEFREE Insulin has also been implicated in processing of beta-amyloid and amyloid precursor protein (APP). 10818510 2000
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.400 GeneticVariation disease BEFREE The discovery of nonbeta-amyloid (Abeta), plaque-like deposits composed of a 100-kd protein (AMY) in sporadic AD (SAD) brains prompted us to determine whether these plaques (AMY plaques) also occur in AD due to mutations of the presenilin-1 (PS-1), presenilin-2 (PS-2), or the amyloid precursor protein (APP) genes. 10636133 2000
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.400 Biomarker disease BEFREE Thus, APP transgenic mice can serve as models to investigate genetic influences on the amount and timing of cerebral amyloidosis, the morphology of amyloid plaques, and the vulnerability of specific neuroanatomical regions to A beta deposition. 11193147 2000
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.400 Biomarker disease BEFREE The beta-site of beta-amyloid precursor protein cleaving enzyme (BACE) cleaves the beta-amyloid (Abeta) precursor protein at the N-terminal end of Abeta, allowing for the production of Abeta by C-terminal gamma-secretase cleavage. 11684351 2001
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.400 GeneticVariation disease BEFREE Mutations in the amyloid precursor protein (APP) gene result in elevated production and deposition of the 42 amino acid beta-amyloid (Abeta1-42) peptide and early-onset Alzheimer's disease (AD). 11741394 2001
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.400 Biomarker disease BEFREE The lower titer of serum anti-Abeta42 peptide antibodies in AD patients may reflect the reported specific impairment of helper T cell activity for B cells that produce anti-amyloid-beta42 peptide antibodies in APP-transgenic mice. 12086704 2002
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.400 GeneticVariation disease BEFREE Mutations in the beta-amyloid (Abeta) sequence of the amyloid precursor protein gene (APP) present with variable disease phenotypes. 12505425 2002
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.400 Biomarker disease BEFREE Non-amyloid beta (Abeta) component of Alzheimer's disease (AD) amyloid (NAC) coexists with Abeta protein in senile plaques. 12124431 2002
CUI: C0002726
Disease: Amyloidosis
Amyloidosis
0.400 GeneticVariation disease BEFREE Mutations in the Abeta-encoding region of the amyloid precursor protein (APP) gene are frequently associated with very severe forms of vascular Abeta deposition, sometimes also accompanied by AD pathology. 12163376 2002