Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 8878
Gene Symbol: SQSTM1
SQSTM1
0.200 GeneticVariation disease BEFREE Mutations in sequestosome 1 (<i>SQSTM1</i>) gene are associated with neurodegenerative diseases, such as frontotemporal dementia and amyotrophic lateral sclerosis. 31525130 2019
Entrez Id: 8878
Gene Symbol: SQSTM1
SQSTM1
0.200 Biomarker disease BEFREE Notably, mutations in the LIR-motif proteins p62 (SQSTM1) and optineurin (OPTN) contribute to familial forms of frontotemporal dementia and amyotrophic lateral sclerosis. 30030024 2019
Entrez Id: 8878
Gene Symbol: SQSTM1
SQSTM1
0.200 GeneticVariation disease BEFREE Our results identify a novel pathogenic <i>SQSTM1</i> S224X mutation in an atypical FTD patient accompanied with loss of SQSTM1/p62 protein expression probably due to <i>SQSTM1</i> gene haploinsufficiency. 29467647 2018
Entrez Id: 8878
Gene Symbol: SQSTM1
SQSTM1
0.200 GeneticVariation disease BEFREE An FTD-linked p62 D329G polymorphism and a rare D329H variant could not be proteolyzed by caspase-8, and these noncleavable variants failed to activate mTORC1, thereby revealing the detrimental effect of these mutations. 30514811 2018
Entrez Id: 8878
Gene Symbol: SQSTM1
SQSTM1
0.200 Biomarker 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
Entrez Id: 8878
Gene Symbol: SQSTM1
SQSTM1
0.200 GeneticVariation disease BEFREE Mutations in the sequestosome 1 (SQSTM1) gene have rarely been found in individuals with FTD. 26234378 2016
Entrez Id: 8878
Gene Symbol: SQSTM1
SQSTM1
0.200 GeneticVariation disease BEFREE Neuroimaging Correlates of Frontotemporal Dementia Associated with SQSTM1 Mutations. 27163810 2016
Entrez Id: 8878
Gene Symbol: SQSTM1
SQSTM1
0.200 Biomarker disease BEFREE We performed a systematic review on 42 pathological studies to assess the pooled prevalence rates and density (a measure of the number of inclusions per brain region) of (phosphorylated)-TDP-43, p62 and DRP neuronal inclusions in seven brain regions and the spinal cord of 261 C9ORF72-positive patients with amyotrophic lateral sclerosis (ALS), frontotemporal dementia (FTD) and ALS-FTD. 26373655 2016
Entrez Id: 8878
Gene Symbol: SQSTM1
SQSTM1
0.200 GeneticVariation disease BEFREE Heterozygous variants in SQSTM1 have been associated with Paget disease of the bone and might contribute to neurodegeneration in amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). 27545679 2016
Entrez Id: 8878
Gene Symbol: SQSTM1
SQSTM1
0.200 GeneticVariation disease BEFREE Although p62/SQSTM1 mutations were initially associated with Paget disease of bone (PDB), they have been also identified in FTD. 26839080 2016
Entrez Id: 8878
Gene Symbol: SQSTM1
SQSTM1
0.200 GeneticVariation disease BEFREE A combination of whole-exome sequencing, Sanger sequencing and fragment analysis/Southern blot was performed in order to identify pathogenic mutations and novel variants in these genes as well as other FTD-related genes such as the 'charged multivesicular body protein 2B' (CHMP2B), the 'FUS RNA binding protein' (FUS), the 'TAR DNA binding protein' (TARDBP), the 'sequestosome1' (SQSTM1), and the 'valosin containing protein' (VCP). 27632209 2016
Entrez Id: 8878
Gene Symbol: SQSTM1
SQSTM1
0.200 Biomarker disease BEFREE This study further supports the implication of SQSTM1 in frontotemporal dementia, and enlarges the phenotypic spectrum associated with SQSTM1 mutations. 25114083 2015
Entrez Id: 8878
Gene Symbol: SQSTM1
SQSTM1
0.200 GeneticVariation disease BEFREE Similar to mutations in VCP, dominantly inherited mutations in SQSTM1 are now associated with rimmed vacuolar myopathy, Paget disease of bone, amyotrophic lateral sclerosis, and frontotemporal dementia. 26208961 2015
Entrez Id: 8878
Gene Symbol: SQSTM1
SQSTM1
0.200 GeneticVariation disease BEFREE Frequency of SQSTM1 mutations in patients with FTD or FTD-ALS; description of associated phenotypes. 24042580 2013
Entrez Id: 8878
Gene Symbol: SQSTM1
SQSTM1
0.200 AlteredExpression disease BEFREE In parallel, the p62 promoter exhibited elevated oxidative damage in samples from various diseases compared to normal brain, and damage was negatively correlated with p62 expression in FTD samples. 19481605 2009
Entrez Id: 8878
Gene Symbol: SQSTM1
SQSTM1
0.200 Biomarker disease HPO