Alzheimer Disease, Early Onset
|
0.500 |
Biomarker
|
disease |
BEFREE |
Mutations in presenilin 1 (PSEN1), presenilin 2 (PSEN2), and amyloid precursor protein (APP) are major genetic causes of early-onset Alzheimer's disease (EOAD).
|
30797548 |
2020 |
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 |
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 |
GeneticVariation
|
disease |
BEFREE |
The "Australian" (L723P) mutation located in the C-termini of APP TM domain is associated with autosomal-dominant, early onset Alzheimer's disease.
|
31180641 |
2019 |
Alzheimer Disease, Early Onset
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
The identification of amyloid-β precursor protein (APP) pathogenic mutations in familial early onset Alzheimer's disease (AD), along with knowledge that amyloid-β (Aβ) was the principle protein component of senile plaques, led to the establishment of the amyloid cascade hypothesis.
|
30760863 |
2019 |
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 |
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 |
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 |
BEFREE |
CRISPR/Cas9 Mediated Disruption of the Swedish APP Allele as a Therapeutic Approach for Early-Onset Alzheimer's Disease.
|
29858078 |
2018 |
Alzheimer Disease, Early Onset
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Autosomal dominant early-onset Alzheimer's disease (EOAD) is genetically heterogeneous and has been associated with mutations in 3 different genes, coding for amyloid precursor protein (APP), presenilin 1 (PSEN1), and presenilin 2 (PSEN2).
|
30104866 |
2018 |
Alzheimer Disease, Early Onset
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the amyloid precursor protein (<i>APP</i>) gene were the first to be recognized as the cause of AD.
|
30510423 |
2018 |
Alzheimer Disease, Early Onset
|
0.500 |
Biomarker
|
disease |
BEFREE |
Triplication of APP, a gene on chromosome 21, is sufficient to cause early-onset Alzheimer's disease in the absence of Down syndrome.
|
29945247 |
2018 |
Alzheimer Disease, Early Onset
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Abbreviations: Alzheimer's disease (AD); Late-onset Alzheimer's disease (LOAD); Early-onset Alzheimer's disease (EOAD); Shugoshin-1 (Sgo1); Chromosome Instability (CIN); apolipoprotein (Apoe); Central nervous system (CNS); Amyloid precursor protein (APP); N-methyl-d-aspartate (NMDA); Hazard ratio (HR); Cyclin-dependent kinase (CDK); Chronic Atrial Intestinal Dysrhythmia (CAID); beta-secretase 1 (BACE); phosphor-Histone H3 (p-H3); Research and development (R&D); Non-steroidal anti-inflammatory drugs (NSAIDs); Brain blood barrier (BBB).
|
30231670 |
2018 |
Alzheimer Disease, Early Onset
|
0.500 |
Biomarker
|
disease |
CTD_human |
High performance plasma amyloid-β biomarkers for Alzheimer's disease.
|
29420472 |
2018 |
Alzheimer Disease, Early Onset
|
0.500 |
Biomarker
|
disease |
CTD_human |
Quantitative Genetics Validates Previous Genetic Variants and Identifies Novel Genetic Players Influencing Alzheimer's Disease Cerebrospinal Fluid Biomarkers.
|
30320580 |
2018 |
Alzheimer Disease, Early Onset
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
A minority of patients with sporadic early-onset Alzheimer's disease (AD) exhibit de novo germ line mutations in the autosomal dominant genes such as APP, PSEN1, or PSEN2.
|
30114415 |
2018 |
Alzheimer Disease, Early Onset
|
0.500 |
Biomarker
|
disease |
BEFREE |
The appearance of APP-dependent endosome anomalies in DS beginning in infancy and evolving into the full range of AD-related endosomal-lysosomal deficits provides a unique opportunity to characterize the earliest pathobiology of AD preceding the classical neuropathological hallmarks.
|
28988799 |
2018 |
Alzheimer Disease, Early Onset
|
0.500 |
Biomarker
|
disease |
BEFREE |
Taken together, these results identify an unrecognized physiological function of APP in promoting OB survival and bone formation, implicate APPswe acting as a dominant negative factor, and reveal a potential clinical value of NAC in treatment of AD-associated osteoporotic deficits.
|
30349052 |
2018 |
Alzheimer Disease, Early Onset
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
Predictors for a dementia gene mutation based on gene-panel next-generation sequencing of a large dementia referral series.
|
30279455 |
2018 |
Alzheimer Disease, Early Onset
|
0.500 |
GeneticVariation
|
disease |
CLINVAR |
APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases.
|
28350801 |
2017 |
Alzheimer Disease, Early Onset
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
Clinical characterization of an APP mutation (V717I) in five Han Chinese families with early-onset Alzheimer's disease.
|
27838006 |
2017 |
Alzheimer Disease, Early Onset
|
0.500 |
Biomarker
|
disease |
CTD_human |
Oral administration of methysticin improves cognitive deficits in a mouse model of Alzheimer's disease.
|
28448946 |
2017 |
Alzheimer Disease, Early Onset
|
0.500 |
GeneticVariation
|
disease |
BEFREE |
We conducted a comprehensive screening of rare coding variants in an African American cohort to identify novel pathogenic mutations within the early-onset Alzheimer's disease (EOAD) genes (APP, PSEN1, and PSEN2) in this understudied population.
|
28106563 |
2017 |
Alzheimer Disease, Early Onset
|
0.500 |
Biomarker
|
disease |
BEFREE |
In this case-control study, whole-exome sequencing (WES) was performed in 51 non-Hispanic white (NHW) patients with EOAD (age at onset <65 years) and 19 Caribbean Hispanic families previously screened as negative for established APP, PSEN1, and PSEN2 causal variants.
|
28738127 |
2017 |
Alzheimer Disease, Early Onset
|
0.500 |
Biomarker
|
disease |
BEFREE |
Taken together the findings in this rare patient with PT21 confirm the obligatory role of APP in the clinical, biochemical, and neuropathological findings of AD in DS.
|
27983553 |
2017 |