Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
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0.070 | GeneticVariation | disease | BEFREE | Here we report that a non-KIR domain FTLD-associated variant of p62 (p.R110C), affecting a residue close to the N-terminal PB1 oligomerisation domain, also reduces Keap1-p62 binding in cellulo and thereby reduces Nrf2 activity in reporter assays. | 30954537 | 2019 | ||||
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0.070 | 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 | ||||
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0.070 | Biomarker | disease | BEFREE | Frontotemporal lobar degeneration (FTLD) and motor neurone disease are linked by the possession of a hexanucleotide repeat expansion in C9ORF72, and both show neuronal cytoplasmic inclusions within cerebellar and hippocampal neurones which are TDP-43 negative but immunoreactive for p62 and dipeptide repeat proteins (DPR), these being generated by a non-ATG RAN translation of the expanded region of the gene. | 25185840 | 2015 | ||||
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0.070 | Biomarker | disease | BEFREE | We conclude that DPR are a major component of p62 positive inclusions in FTLD and MND. | 24252525 | 2013 | ||||
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0.070 | Biomarker | disease | BEFREE | Here we immunoprecipitated endogenous p62 in the cerebral cortex from patients with frontotemporal lobar degeneration with TDP-43 inclusions (FTLD-TDP) and found that p62 coimmunoprecipitated several proteins, including TDP-43, which is a major disease protein in FTLD-TDP. | 22674379 | 2012 | ||||
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0.070 | Biomarker | disease | BEFREE | Neuropathological examination in six cases with C9ORF72 mutation from the frontotemporal lobar degeneration series identified histomorphological features consistent with either type A or B TAR DNA-binding protein-43 deposition; however, p62-positive (in excess of TAR DNA-binding protein-43 positive) neuronal cytoplasmic inclusions in hippocampus and cerebellum were a consistent feature of these cases, in contrast to the similar frequency of p62 and TAR DNA-binding protein-43 deposition in 53 control cases with frontotemporal lobar degeneration-TAR DNA-binding protein. | 22366791 | 2012 | ||||
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0.070 | Biomarker | disease | BEFREE | Additional studies are warranted in order to better investigate the role of p62 in the pathogenesis of both FTLD and ALS. | 22972638 | 2012 |