Down Syndrome
|
0.050 |
AlteredExpression
|
disease |
LHGDN |
Western blot analysis revealed no difference between DS and control in BACE-2 protein levels in the intracellular compartment.
|
12895444 |
2003 |
Down Syndrome
|
0.050 |
AlteredExpression
|
disease |
BEFREE |
Western blot analysis revealed no difference between DS and control in BACE-2 protein levels in the intracellular compartment.
|
12895444 |
2003 |
Complete Trisomy 21 Syndrome
|
0.050 |
AlteredExpression
|
disease |
BEFREE |
Western blot analysis revealed no difference between DS and control in BACE-2 protein levels in the intracellular compartment.
|
12895444 |
2003 |
Presenile dementia
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
We looked into our cohort of 67 DS cases with dementia for the effect of BACE2 variants in age of onset of dementia.
|
24462566 |
2014 |
Dementia
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
We looked into our cohort of 67 DS cases with dementia for the effect of BACE2 variants in age of onset of dementia.
|
24462566 |
2014 |
Alzheimer Disease, Late Onset
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
We have tested, in a two-stage association study, whether allelic or haplotype variation of the beta-amyloid cleaving enzyme-2 (BACE2) locus on chromosome 21q affects the risk of late-onset AD.
|
16023140 |
2005 |
Alzheimer's Disease
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
We conclude that sequence variation in the BACE1 or BACE 2 gene is not a significant risk factor for AD; however, a combination of a specific BACE1 allele and APOE epsilon 4 may increase the risk for Alzheimer disease over and above that attributed to APOE epsilon 4 alone.
|
12707937 |
2003 |
Malignant Neoplasms
|
0.010 |
AlteredExpression
|
group |
BEFREE |
Up-regulation of ALP56 gene transcription was observed in both adenomas and cancers compared to normal mucosa.
|
12802606 |
2004 |
Alzheimer's Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
To elucidate the involvement of BACE2 in AD pathogenesis, we compared BACE2 and BACE1 gene regulation and their functions in Abeta generation.
|
15857888 |
2005 |
Diabetes Mellitus, Non-Insulin-Dependent
|
0.030 |
Biomarker
|
disease |
BEFREE |
Thus, BACE2 inhibition may be useful to recover insulin secretion in hIAPP-INS1E defective cells and may be proposed as a therapeutic target for T2D.
|
25342134 |
2015 |
Breast Carcinoma
|
0.030 |
Biomarker
|
disease |
BEFREE |
Thus ALP56 as well as cathepsin D may be a useful target molecule in breast cancer treatment.
|
12611455 |
2003 |
Malignant neoplasm of breast
|
0.020 |
Biomarker
|
disease |
BEFREE |
Thus ALP56 as well as cathepsin D may be a useful target molecule in breast cancer treatment.
|
12611455 |
2003 |
Endothelial dysfunction
|
0.010 |
Biomarker
|
phenotype |
BEFREE |
This study aims to define possible longitudinal predictive mRNA markers involved in the main pathogenic pathways of PE: inflammation [macrophage migration inhibitory factor (MIF)], hypoxia and oxidative stress [hypoxia inducible factor 1-α subunit (HIF1A) and β-site APP-cleaving enzyme-2 (BACE2)] and endothelial dysfunction [endoglin (ENG), fms-related tyrosine kinase-1 (FLT1) and vascular endothelial growth factor (VEGF)].
|
25460285 |
2015 |
Alzheimer Disease, Early Onset
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
This activity appears highly increased by the presence (N-terminally to Asp-1) of a double-mutation (KM-->NL) found in several Swedish families affected by early onset Alzheimer's disease.
|
9098524 |
1997 |
Diabetes Mellitus, Non-Insulin-Dependent
|
0.030 |
Biomarker
|
disease |
BEFREE |
These results suggest a potential therapeutic role for BACE2 in type 2 diabetes-associated hyperamylinaemia.
|
26840340 |
2016 |
Alzheimer Disease, Late Onset
|
0.020 |
GeneticVariation
|
disease |
BEFREE |
These findings suggest that genetic variation at the BACE2 locus modifies AD risk for those individuals who don't carry the ε4 variant of APOE.
|
31270419 |
2019 |
Alzheimer's Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Therefore, BACE2 contributes to AD pathogenesis as a conditional β-secretase and could be a preventive and therapeutic target for AD without the side effects of BACE1 inhibition.
|
30626751 |
2019 |
Alzheimer's Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
The β-amyloid cleaving enzymes 1 and 2 (BACE1 and BACE2) have been regarded as the prospective targets for clinically treating Alzheimer's disease (AD) in the last two decades.
|
31545898 |
2019 |
Alzheimer's Disease
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
The proteins BACE1 and BACE2 and beta-secretase activity in normal and Alzheimer's disease brain.
|
17511655 |
2007 |
Hypopigmentation disorder
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
The potential liabilities of inhibiting BACE2 chronically have only recently begun to emerge as BACE2 impacts the processing of the premelanosome protein (PMEL17) and disrupts melanosome morphology resulting in a depigmentation phenotype.
|
29613789 |
2018 |
Hirschsprung Disease
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
The patients had a significant excess of rare protein-altering variants in genes previously associated with Hirschsprung disease and in the β-secretase 2 gene (BACE2) (P = 2.9 × 10<sup>-6</sup>).
|
30217742 |
2018 |
Varicosity
|
0.010 |
Biomarker
|
disease |
BEFREE |
The odds ratios in subjects CCSVI were 0.6 (0.2-2.2) for CEAP 1, 0.9 (0.2-4.5) for CEAP 2, and 1.0 (0.6-1.9) for family history of varicose veins.
|
25081746 |
2015 |
Chronic cerebrospinal venous insufficiency
|
0.010 |
Biomarker
|
disease |
BEFREE |
The odds ratios in subjects CCSVI were 0.6 (0.2-2.2) for CEAP 1, 0.9 (0.2-4.5) for CEAP 2, and 1.0 (0.6-1.9) for family history of varicose veins.
|
25081746 |
2015 |
Tumor Progression
|
0.010 |
Biomarker
|
phenotype |
BEFREE |
The function for this gene, designated ALP56 (aspartic-like protease 56 kDa), in tumor progression is suggested by the homology of the encoded protein to aspartic proteases, such as cathepsin D. The amino acid residues in two catalytic domains of this family are highly conserved in those domains of ALP56.
|
10838186 |
2000 |
Anemia, Diamond-Blackfan, 2
|
0.010 |
GeneticVariation
|
disease |
BEFREE |
The D2N.B6N-Ahrb1 expresses B6 alleles for all markers within the critical region, whereas the D2.B6N-Asp1b expresses the B6 allele only at the Asp1 locus.
|
10656108 |
1998 |