DCTN4, dynactin subunit 4, 51164

N. diseases: 253; N. variants: 4
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.040 Biomarker disease BEFREE Although p62 facilitates the association of ubiquitinated proteins with autophagosomes, its knockdown in neuroblastoma cells blocked the buildup of ubiquitin conjugates in perinuclear aggresomes and of sumoylated proteins in nuclear inclusions but did not reduce the degradation of ubiquitinated proteins. 29535191 2018
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.040 GeneticVariation disease BEFREE In this work the role of p62 in energy metabolism was studied in fibroblasts from FTD patients carrying two independent pathogenic mutations in the p62 gene, and in a p62-knock-down (p62 KD) human dopaminergic neuroblastoma cell line (SH-SY5Y). 28490746 2017
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.040 Biomarker disease BEFREE We found a significant increase in the expression of p62/SQSTM1 mRNA and protein following mitophagy induction in human neuroblastoma SH-SY5Y cells. p62 protein not only accumulated on mitochondria, but was also greatly increased in the cytosol. 26509433 2016
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.040 AlteredExpression disease BEFREE 6-OHDA treatment failed to suppress mTOR/S6K phosphorylation and to increase LC3 conversion, p62 degradation and cytoplasmatic acidification in neuroblastoma cells in which AMPK expression was downregulated by RNA interference. 22917563 2012