Alzheimer Disease, Early Onset
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the presenilin (PS) genes are linked to the development of early-onset Alzheimer's disease by a gain-of-function mechanism that alters proteolytic processing of the amyloid precursor protein (APP).
|
15601622 |
2005 |
Alzheimer Disease, Early Onset
|
0.500 |
Biomarker
|
disease |
BEFREE |
Dominant missense mutations in the amyloid β (Aβ) precursor protein (APP) gene have been implicated in early onset Alzheimer disease.
|
27422356 |
2016 |
Alzheimer Disease, Early Onset
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Identification of PSEN1 and APP gene mutations in Korean patients with early-onset Alzheimer's disease.
|
18437002 |
2008 |
Alzheimer Disease, Early Onset
|
0.500 |
Biomarker
|
disease |
BEFREE |
Missense mutations in the genes coding for APP and for the polytopic membrane proteins presenilin (PS) 1 and PS2 have been linked to familial forms of early-onset Alzheimer's disease.
|
10026204 |
1999 |
Alzheimer Disease, Early Onset
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Familial forms of CAA are because of mutations in the gene encoding the beta-amyloid precursor protein (APP) and duplications of this gene can cause early-onset Alzheimer's disease associated with CAA.
|
21463452 |
2011 |
Alzheimer Disease, Early Onset
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in amyloid precursor protein (APP) and presenilin (PSEN) genes are known to cause familial early-onset Alzheimer's disease (AD), which account for around 5% of AD cases.
|
18403054 |
2009 |
Alzheimer Disease, Early Onset
|
0.500 |
Biomarker
|
disease |
CTD_human |
Synchrotron-based infrared and X-ray imaging shows focalized accumulation of Cu and Zn co-localized with beta-amyloid deposits in Alzheimer's disease.
|
16325427 |
2006 |
Alzheimer Disease, Early Onset
|
0.500 |
AlteredExpression
|
disease |
BEFREE |
Taken together, we propose that the expression of APP-swe modulates global gene expression directed to AD pathogenesis.
|
21034535 |
2010 |
Alzheimer Disease, Early Onset
|
0.500 |
Biomarker
|
disease |
CTD_human |
Peroxisomal proliferation protects from beta-amyloid neurodegeneration.
|
16204253 |
2005 |
Alzheimer Disease, Early Onset
|
0.500 |
Biomarker
|
disease |
CTD_human |
Metalloenzyme-like activity of Alzheimer's disease beta-amyloid. Cu-dependent catalytic conversion of dopamine, cholesterol, and biological reducing agents to neurotoxic H(2)O(2).
|
12192006 |
2002 |
Alzheimer Disease, Early Onset
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A subset of early-onset Alzheimer's disease is inherited as an autosomal-dominant trait and is associated with mutations in the genes encoding β-amyloid precursor protein, presenilin 1, or presenilin 2.
|
29175279 |
2018 |
Alzheimer Disease, Early Onset
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
To determine the spectrum of mutations in a group consisting of 40 Polish patients with clinically diagnosed familial EOAD and 1 patient with mild cognitive impairment (MCI) and family history of AD, we performed a screening for mutations in the presenilin 1 (PSEN1), presenilin 2 (PSEN2) and amyloid precursor protein (APP) genes.
|
14769392 |
2003 |
Alzheimer Disease, Early Onset
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Novel amyloid precursor protein mutation, Val669Leu ("Seoul APP"), in a Korean patient with early-onset Alzheimer's disease.
|
31623876 |
2019 |
Alzheimer Disease, Early Onset
|
0.500 |
Biomarker
|
disease |
BEFREE |
Collectively, these data reveal an important role for APP in the amyloidogenic aspects of AD but challenge the idea that increased APP levels are solely responsible for increasing specific phosphorylated forms of tau or enhanced neuronal cell death in Down syndrome-associated AD pathogenesis.
|
29861166 |
2018 |
Alzheimer Disease, Early Onset
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
To clarify the respective contribution of the amyloid precursor protein and PSEN mutations to autosomal dominant AD and to determine its contribution to sporadic and familial nonautosomal dominant early-onset AD and familial late-onset AD in a referral-based Spanish population.
|
12433263 |
2002 |
Alzheimer Disease, Early Onset
|
0.500 |
Biomarker
|
disease |
CTD_human |
Copper reduction by copper binding proteins and its relation to neurodegenerative diseases.
|
12572668 |
2003 |
Alzheimer Disease, Early Onset
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Pathogenic variants in the autosomal dominant genes PSEN1, PSEN2, or APP, APOE4 alleles, and rare variants within TREM2, SORL1, and ABCA7 contribute to early-onset Alzheimer's disease (EOAD).
|
31381512 |
2019 |
Alzheimer Disease, Early Onset
|
0.500 |
Biomarker
|
disease |
CTD_human |
Abeta peptides as one of the crucial volume transmission signals in the trophic units and their interactions with homocysteine. Physiological implications and relevance for Alzheimer's disease.
|
16969627 |
2007 |
Alzheimer Disease, Early Onset
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Early-onset Alzheimer disease caused by a new mutation (V717L) in the amyloid precursor protein gene.
|
10867787 |
2000 |
Alzheimer Disease, Early Onset
|
0.500 |
Biomarker
|
disease |
CTD_human |
Vitamin E protects nerve cells from amyloid beta protein toxicity.
|
1497677 |
1992 |
Alzheimer Disease, Early Onset
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Four mutations involving amino acid substitutions in exons 16 and 17 of the amyloid precursor protein (APP) gene, have been identified which co-segregate with the disease in some families multiply affected by early onset Alzheimer's disease.
|
1365885 |
1992 |
Alzheimer Disease, Early Onset
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the <i>APP, PSEN1</i>, and <i>PSEN2</i> genes cause early onset Alzheimer's disease (EOAD) that follows a Mendelian inheritance pattern.
|
29740579 |
2018 |
Alzheimer Disease, Early Onset
|
0.500 |
Biomarker
|
disease |
CTD_human |
A recessive mutation in the APP gene with dominant-negative effect on amyloidogenesis.
|
19286555 |
2009 |
Alzheimer Disease, Early Onset
|
0.500 |
Biomarker
|
disease |
BEFREE |
Swedish double mutation (KM670/671NL) of amyloid precursor protein (APP) is reported to increase toxic amyloid β (Aβ) production via aberrant cleavage at the β-secretase site and thereby cause early-onset Alzheimer's disease (AD).
|
24964199 |
2014 |
Alzheimer Disease, Early Onset
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
In cases of early onset Alzheimer's disease mutations of the presenilin genes (PSEN 1 and PSEN 2) and APP can be found.
|
12754354 |
2003 |