|
Cystic Fibrosis
|
0.540 |
GeneticVariation
|
disease |
BEFREE |
Our observations reinforce that DCTN4 missense variants, especially p.Tyr263Cys, may be involved in the pathogenesis of CPA in male CF.
|
25763772 |
2016 |
|
Cystic Fibrosis
|
0.540 |
GeneticVariation
|
disease |
BEFREE |
For a fixed sample size, sequencing of individuals sampled from the tails of a phenotype distribution (i.e., extreme phenotypes design) maximizes power and this approach was recently validated empirically with the discovery of variants in DCTN4 that influence the natural history of P. aeruginosa airway infection in persons with cystic fibrosis (CF; MIM219700).
|
26047157 |
2015 |
|
Cystic Fibrosis
|
0.540 |
Biomarker
|
disease |
BEFREE |
Taken together, these results suggest that G3BP1, p62 and USP10 could be therapeutic targets for ubiquitinated protein aggregation disorders, including PD and CF.
|
31501480 |
2019 |
|
Cystic Fibrosis
|
0.540 |
GeneticVariation
|
disease |
BEFREE |
As part of the National Heart, Lung, and Blood Institute (NHLBI) Exome Sequencing Project (ESP), we used an extreme phenotype study design to discover that variants in DCTN4, encoding a dynactin protein, are associated with time to first P. aeruginosa airway infection, chronic P. aeruginosa infection and mucoid P. aeruginosa in individuals with cystic fibrosis.
|
22772370 |
2012 |
|
Pseudomonas aeruginosa infection
|
0.320 |
Biomarker
|
disease |
BEFREE |
Exome sequencing of extreme phenotypes identifies DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis.
|
22772370 |
2012 |
|
Pseudomonas aeruginosa infection
|
0.320 |
Biomarker
|
disease |
BEFREE |
DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis.
|
25763772 |
2016 |
|
Cholangiocarcinoma
|
0.120 |
AlteredExpression
|
disease |
BEFREE |
In addition one of two patients with cholangiocarcinoma expressed p62 in malignant bile duct epithelial cells. p62 expression was also detected in scattered cells in cirrhotic nodules in contrast to uniform expression in all cells in HCC nodules.
|
11549587 |
2001 |
|
Cholangiocarcinoma
|
0.120 |
AlteredExpression
|
disease |
BEFREE |
Of 63 cholangiocarcinomas, 59 (95%) expressed p62 c-myc, 47 (75%) expressed p21 c-ras, and 46 (73%) expressed p190 c-erbB-2.
|
2574140 |
1989 |
|
Immunologic Deficiency Syndromes
|
0.110 |
Biomarker
|
group |
BEFREE |
Consistently, genetic ablation of p62 suppressed breast cancer metastasis in both zebrafish embryo and immunodeficient mouse models, as well as decreased tumourigenicity in vivo.
|
28968743 |
2017 |
|
Pulmonary Fibrosis
|
0.110 |
Biomarker
|
disease |
BEFREE |
In this study, we aimed to determine expressions of autophagy-related markers Beclin 1, microtubule-associated protein light chain 3 (LC3), and p62 in PQ-poisoned lungs and to explore the role of autophagy in pulmonary fibrosis induced by PQ.
|
30977401 |
2019 |
|
Alzheimer's Disease
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Furthermore, the levels of p62 also significantly decreased, and the cathepsin D levels increased, accompanied by increased turnover of Aβ and APP in Se-yeast-treated AD mice.
|
30043821 |
2018 |
|
Alzheimer's Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
p62, also known as sequestosome1, is a shuttle protein transporting polyubiquitinated proteins for both the proteasomal and lysosomal degradation. p62 is an integral component of inclusions in brains of various neurodegenerative disorders, including Alzheimer disease (AD) neurofibrillary tangles (NFTs) and Lewy bodies in Parkinson disease.
|
19557423 |
2009 |
|
Alzheimer's Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Mutant ubiquitin and p62 immunoreactivity in cases of combined multiple system atrophy and Alzheimer's disease.
|
17237936 |
2007 |
|
Alzheimer's Disease
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Using a gene therapy approach, here we show that increasing brain p62 expression rescues cognitive deficits in APP/PS1 mice, a widely used animal model of AD.
|
27573878 |
2017 |
|
Alzheimer's Disease
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Recent studies have demonstrated that the p62 gene expression and cytoplasmic p62 protein levels are significantly reduced in the frontal cortex of AD patients.
|
22138392 |
2012 |
|
Alzheimer's Disease
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
The integrative approach uncovered novel miRNA-gene networks (e.g., miR-146 and miR-34 regulating p62 and Beclin1 in autophagy) that might give new insights into the complex regulatory mechanisms of gene expression in AD and cancer.
|
31608105 |
2019 |
|
Alzheimer's Disease
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
We found that the 8-month-old AD animals presented significantly higher deposition of Aβ(1-42) and expression of TFEB and its targeted proteins, such as LAMP-1 and cathepsin D, and autophagy-associated LC3-II and p62 in brain tissues than in others.
|
26368054 |
2015 |
|
Alzheimer's Disease
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Altogether, our results reveal that oxidative damage to the p62 promoter correlates with decreased expression of p62 and may contribute to age-associated neurodegenerative disease such as AD and others.
|
19071211 |
2009 |
|
Alzheimer's Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
Furthermore, p62 has recently been detected as a component of intracytoplasmic protein aggregates (inclusion bodies), which are hallmarks of a variety of chronic degenerative disorders, such as Parkinson's disease and Alzheimer's disease, but also of steatohepatitis.
|
15926199 |
2005 |
|
Alzheimer's Disease
|
0.100 |
Biomarker
|
disease |
BEFREE |
We performed immunohistochemical tests for the presence of S403-phos-p62 in postmortem brain of neurodegenerative disease cases, and found accumulations in amyotrophic lateral sclerosis and Alzheimer's disease tissues.
|
26302676 |
2016 |
|
Alzheimer's Disease
|
0.100 |
AlteredExpression
|
disease |
BEFREE |
Recently we reported that declined SQSTM1/p62 expression in Alzheimer disease brain was age-correlated with oxidative damage to the p62 promoter.
|
19481605 |
2009 |
|
Amyotrophic Lateral Sclerosis
|
0.100 |
Biomarker
|
disease |
BEFREE |
TBK1 is known to bind to and phosphorylate a number of proteins involved in innate immunity and autophagy, including optineurin (OPTN) and p62 (SQSTM1/sequestosome), both of which have also been implicated in ALS.
|
25700176 |
2015 |
|
Amyotrophic Lateral Sclerosis
|
0.100 |
Biomarker
|
disease |
BEFREE |
We performed a systematic review on 42 pathological studies to assess the pooled prevalence rates and density (a measure of the number of inclusions per brain region) of (phosphorylated)-TDP-43, p62 and DRP neuronal inclusions in seven brain regions and the spinal cord of 261 C9ORF72-positive patients with amyotrophic lateral sclerosis (ALS), frontotemporal dementia (FTD) and ALS-FTD.
|
26373655 |
2016 |
|
Amyotrophic Lateral Sclerosis
|
0.100 |
Biomarker
|
disease |
BEFREE |
Our results suggest a difference in HR23B aggregation and co-localization pattern with DPRs, pTDP-43 and p62 between different brain areas from C9FTD/ALS cases.
|
30867060 |
2019 |
|
Amyotrophic Lateral Sclerosis
|
0.100 |
Biomarker
|
disease |
BEFREE |
The multifunctional protein p62 is associated with neuropathological inclusions in several neurodegenerative disorders, including frontotemporal lobar degeneration, amyotrophic lateral sclerosis and Alzheimer's disease (AD).
|
27573878 |
2017 |