NUP62, nucleoporin 62, 23636

N. diseases: 273; N. variants: 6
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
STRIATONIGRAL DEGENERATION, INFANTILE (disorder)
0.710 GeneticVariation disease BEFREE Mutated nup62 causes autosomal recessive infantile bilateral striatal necrosis. 16786527 2006
CUI: C0002395
Disease: Alzheimer's Disease
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
CUI: C0002395
Disease: Alzheimer's Disease
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
CUI: C0002395
Disease: Alzheimer's Disease
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
CUI: C0002395
Disease: Alzheimer's Disease
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
CUI: C0002395
Disease: Alzheimer's Disease
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
CUI: C0002395
Disease: Alzheimer's Disease
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
CUI: C0002395
Disease: Alzheimer's Disease
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
CUI: C0002395
Disease: Alzheimer's Disease
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
CUI: C0002395
Disease: Alzheimer's Disease
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
CUI: C0002395
Disease: Alzheimer's Disease
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
CUI: C0002395
Disease: Alzheimer's Disease
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
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
0.100 GeneticVariation disease BEFREE Mutations in the gene encoding p62 in Japanese patients with amyotrophic lateral sclerosis. 23303844 2013
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
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
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
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
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
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
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
0.100 GeneticVariation disease BEFREE These mutations that are located in the ubiquitin-associated domain (UBA domain) of the p62 protein have already been described in Paget's disease and ALS patients carrying these mutations had both concomitant Paget's disease. 23417734 2013
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
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
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
0.100 Biomarker disease BEFREE Remarkably, despite the large degree of heterogeneity, all cases of ALS have protein aggregates in the brain and spinal cord that are immunopositive for SOD1, TDP-43, OPTN, and/or p62. 29515358 2018
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
0.100 Biomarker disease BEFREE Recently, mutations in the sequestosome 1 (SQSTM1) gene, which encodes p62 protein, have been reported in patients with ALS. 22972638 2012
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
0.100 GeneticVariation disease BEFREE SQSTM1 mutations, coding for the p62 protein, were identified as a monogenic cause of Paget disease of bone and of amyotrophic lateral sclerosis. 25114083 2015
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
0.100 Biomarker disease BEFREE Mutations in the p62 gene (also known as SQSTM1) which encodes the p62 protein have been reported in both disorders supporting the idea of an ALS/FTD continuum. 28490746 2017
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
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
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
0.100 Biomarker disease BEFREE Furthermore, we found elevated levels of high molecular weight ubiquitinated proteins and p62 in animals expressing ALS-causing genes with TBI, suggesting that TBI may lead to the defects in protein degradation pathways. 29432563 2018
CUI: C0002736
Disease: Amyotrophic Lateral Sclerosis
Amyotrophic Lateral Sclerosis
0.100 GeneticVariation disease BEFREE Previously, two ALS-FTLD-associated p62 mutant proteins within the Keap1 interacting region (KIR) of p62 were found to be associated with decreased Keap1-p62 binding and Nrf2 activation. 30954537 2019