Gene Disease Score gda Association Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 65018
Gene Symbol: PINK1
PINK1
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.400 Biomarker BEFREE Here, we investigated the role of the UPS and autophagy by applying the potassium ionophore Valinomycin in PINK1-deficient human fibroblasts and isogenic neuroblastoma cell lines generated by CRISPR/Cas9. 30375512

2019

Entrez Id: 65018
Gene Symbol: PINK1
PINK1
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.400 Biomarker BEFREE We used differentiated human dopaminergic neuroblastoma cell lines with stable PINK1 or DJ-1 knockdown to study live motility of mitochondria in neurites. 30133157

2018

Entrez Id: 65018
Gene Symbol: PINK1
PINK1
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.400 Biomarker BEFREE These abnormalities are associated with increased inflammation-induced NF-κB signaling in astrocytes, and cause enhanced death of neurons co-cultured with inflamed PINK1 <sup>-/-</sup> mixed glia and neuroblastoma cells exposed to conditioned medium from LPS/IFN-γ treated PINK1 <sup>-/-</sup> mixed glia. 29321620

2018

Entrez Id: 65018
Gene Symbol: PINK1
PINK1
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.400 Biomarker BEFREE The aim of the present study was to create a cellular model of PD using siRNA-mediated knock down of PINK1 in SH-SY5Y neuroblastoma cells The possible protective effects of curcumin, known for its many beneficial properties including antioxidant and anti-inflammatory effects, was tested on this model in the presence and absence of paraquat, an additional stressor. 27003823

2017

Entrez Id: 65018
Gene Symbol: PINK1
PINK1
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.400 GeneticVariation BEFREE Marked dysregulations of microbial defense factors Ifit3 and Rsad2 were consistently observed upon five analyses: (1) Pink1 <sup>-/-</sup> primary neurons in the first weeks after brain dissociation, (2) aged Pink1 <sup>-/-</sup> midbrain with transgenic A53T-alpha-synuclein overexpression, (3) human neuroblastoma cells with PINK1-knockdown and murine Pink1 <sup>-/-</sup> embryonal fibroblasts undergoing acute starvation, (4) triggering mitophagy in these cells with trifluoromethoxy carbonylcyanide phenylhydrazone (FCCP), and (5) subjecting them to pathogenic RNA-analogue poly(I:C). 28768533

2017

Entrez Id: 65018
Gene Symbol: PINK1
PINK1
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.400 AlteredExpression BEFREE In this study, we report that increased mitochondrial PINK1 levels observed in human neuroblastoma SH-SY5Y cells after carbonyl cyanide m-chlorophelyhydrazone (CCCP) treatment were due to de novo protein synthesis, and not just increased stabilization of full length PINK1 (FL-PINK1). 24184327

2014

Entrez Id: 65018
Gene Symbol: PINK1
PINK1
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.400 Biomarker BEFREE Here, we demonstrate that Miro1, an outer mitochondrial membrane (OMM) protein crucial for the regulation of mitochondrial trafficking and distribution, is a substrate of the PINK1/Parkin mitochondrial quality control system in human dopaminergic neuroblastoma cells. 24671417

2014

Entrez Id: 65018
Gene Symbol: PINK1
PINK1
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.400 Biomarker CTD_human The genetic landscape of high-risk neuroblastoma. 23334666

2013

Entrez Id: 65018
Gene Symbol: PINK1
PINK1
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.400 AlteredExpression BEFREE We previously reported that stable neuroblastoma SH-SY5Y cell lines with reduced expression of endogenous PINK1 exhibit mitochondrial fragmentation, increased mitochondria-derived superoxide, induction of compensatory macroautophagy/mitophagy and a low level of ongoing cell death. 21637291

2011

Entrez Id: 65018
Gene Symbol: PINK1
PINK1
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.400 GeneticVariation BEFREE To investigate the cytoprotective physiological function of PINK1, we used primary fibroblasts from three patients homozygous for G309D-PINK1 as well as SHEP neuroblastoma cells stably overexpressing GFP-tagged wild type (wt) PINK1. 20045449

2010

Entrez Id: 65018
Gene Symbol: PINK1
PINK1
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.400 Biomarker BEFREE Here, we show that Parkin, PINK1, and DJ-1 formed a complex (termed PPD complex) to promote ubiquitination and degradation of Parkin substrates, including Parkin itself and Synphilin-1 in neuroblastoma cells and human brain lysates. 19229105

2009

Entrez Id: 65018
Gene Symbol: PINK1
PINK1
CUI: C0027819
Disease: Neuroblastoma
Neuroblastoma
0.400 PosttranslationalModification BEFREE Indeed, overexpression of PINK1 protects neuroblastoma cells from undergoing neurotoxin-induced apoptosis. 17000703

2006