|
STRIATONIGRAL DEGENERATION, INFANTILE (disorder)
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Familial infantile bilateral striatal necrosis: clinical features and response to biotin treatment.
|
12374138 |
2002 |
|
STRIATONIGRAL DEGENERATION, INFANTILE (disorder)
|
0.710 |
GeneticVariation
|
disease |
BEFREE |
Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis.
|
16786527 |
2006 |
|
STRIATONIGRAL DEGENERATION, INFANTILE (disorder)
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis.
|
16786527 |
2006 |
|
STRIATONIGRAL DEGENERATION, INFANTILE (disorder)
|
0.710 |
CausalMutation
|
disease |
CLINVAR |
|
|
|
|
STRIATONIGRAL DEGENERATION, INFANTILE (disorder)
|
0.710 |
GeneticVariation
|
disease |
UNIPROT |
Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis.
|
16786527 |
2006 |
|
STRIATONIGRAL DEGENERATION, INFANTILE (disorder)
|
0.710 |
Biomarker
|
disease |
CTD_human |
|
|
|
|
STRIATONIGRAL DEGENERATION, INFANTILE (disorder)
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Infantile bilateral striatal necrosis maps to chromosome 19q.
|
14718703 |
2004 |
|
STRIATONIGRAL DEGENERATION, INFANTILE (disorder)
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis.
|
16786527 |
2006 |
|
STRIATONIGRAL DEGENERATION, INFANTILE (disorder)
|
0.710 |
GermlineCausalMutation
|
disease |
ORPHANET |
|
|
|
|
STRIATONIGRAL DEGENERATION, INFANTILE (disorder)
|
0.710 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
|
27604308 |
2016 |
|
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 |
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 |
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 |
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 |
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 |
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 |
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 |
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 |
Recently we reported that declined SQSTM1/p62 expression in Alzheimer disease brain was age-correlated with oxidative damage to the p62 promoter.
|
19481605 |
2009 |
|
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 |
|
Amyotrophic Lateral Sclerosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Mutations in the gene encoding p62 in Japanese patients with amyotrophic lateral sclerosis.
|
23303844 |
2013 |
|
Amyotrophic Lateral Sclerosis
|
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 |
|
Amyotrophic Lateral Sclerosis
|
0.100 |
GeneticVariation
|
disease |
BEFREE |
Accumulating evidence suggests that heterozygous mutations in the SQSTM1 gene, which encodes p62 protein, are associated with amyotrophic lateral sclerosis (ALS).
|
23812289 |
2013 |
|
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 |