Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 728226
Gene Symbol: GGTLC3
GGTLC3
0.010 GeneticVariation disease BEFREE <b>Objectives:</b> The present study is geared to learning about the patterns of tau seeding and cells involved following unilateral inoculation in the corpus callosum of homogenates from sporadic Alzheimer's disease (AD), primary age-related tauopathy (PART: neuronal 4Rtau and 3Rtau), pure aging-related tau astrogliopathy (ARTAG: astroglial 4Rtau with thorn-shaped astrocytes TSAs), globular glial tauopathy (GGT: 4Rtau with neuronal tau and specific tau inclusions in astrocytes and oligodendrocytes, GAIs and GOIs, respectively), progressive supranuclear palsy (PSP: 4Rtau with neuronal inclusions, tufted astrocytes and coiled bodies), Pick's disease (PiD: 3Rtau with characteristic Pick bodies in neurons and tau containing fibrillar astrocytes), and frontotemporal lobar degeneration linked to P301L mutation (FTLD-P301L: 4Rtau familial tauopathy). 31191295 2019
Entrez Id: 11221
Gene Symbol: DUSP10
DUSP10
0.010 GeneticVariation disease BEFREE Our findings validate the known association of loci at MAPT, MOBP, EIF2AK3 and STX6 with risk of PSP, and uncover novel associations with SLCO1A2 (rs11568563) and DUSP10 (rs6687758) variants, both of which were classified as non-significant in the original GWAS. 29986742 2018
Entrez Id: 5524
Gene Symbol: PTPA
PTPA
0.010 Biomarker disease BEFREE Similarly, Western blot analyses showed a decrease of methyl-PP2A and an increase of demethyl-PP2A with a concomitant reduction in the methyl/demethyl PP2A ratio in both PSP (74%) and AD (76%) brains. 29281045 2018
Entrez Id: 3084
Gene Symbol: NRG1
NRG1
0.010 AlteredExpression disease BEFREE So, we aimed at investigating whether the expression of NRG1 or ErbB proteins are altered in progressive supranuclear palsy (PSP). 29319907 2018
Entrez Id: 875
Gene Symbol: CBS
CBS
0.010 Biomarker disease BEFREE The aim of the work is to analyze cases of patients of the Department of Neurology, overlapping of syndromes related to both pathologies and to show that most likely CBS and PSP are not lineary related to their commonly associated syndromes i.e. adequately corticobasal syndromes and progressive supranuclear palsy syndromes. 30025721 2018
Entrez Id: 7040
Gene Symbol: TGFB1
TGFB1
0.010 Biomarker disease BEFREE On a sensitive electrochemiluminescence-based platform (Quickplex, Meso Scale Discovery®), we examined a panel of C-reactive protein (CRP) and eight selected cytokines, IFN-γ, IL-10, IL-18, IL-1β, IL-4, IL-6, TGF-β1, and TNF-α, among patients with PD (n = 46), MSA (n = 35), and PSP (n = 39) or controls (n = 31). 30390673 2018
Entrez Id: 55177
Gene Symbol: RMDN3
RMDN3
0.010 Biomarker disease BEFREE Tau, a microtubule-associated protein, is the main component of the intracellular filamentous inclusions that are involved in neurodegenerative diseases known as tauopathies, including Alzheimer disease (AD), frontotemporal dementia with parkinsonism-17 (FTDP-17), Pick disease (PiD), progressive supranuclear palsy (PSP) and corticobasal degeneration (CBD). 29951497 2018
Entrez Id: 151393
Gene Symbol: RMDN2
RMDN2
0.010 Biomarker disease BEFREE Tau, a microtubule-associated protein, is the main component of the intracellular filamentous inclusions that are involved in neurodegenerative diseases known as tauopathies, including Alzheimer disease (AD), frontotemporal dementia with parkinsonism-17 (FTDP-17), Pick disease (PiD), progressive supranuclear palsy (PSP) and corticobasal degeneration (CBD). 29951497 2018
Entrez Id: 8927
Gene Symbol: BSN
BSN
0.010 GeneticVariation disease BEFREE Here, we report a mutation in the bassoon (BSN) gene in a family with PSP-like syndrome. 29339765 2018
Entrez Id: 23064
Gene Symbol: SETX
SETX
0.010 GeneticVariation disease BEFREE BNIP1 expression was significantly reduced in spinal cord motor neurons from patients with ALS (4 controls: mean age, 60.5 years, mean [SE] value, 3984 [760.8] arbitrary units [AU]; 7 patients with ALS: mean age, 56 years, mean [SE] value, 1999 [274.1] AU; P = .02), in an ALS mouse model (mean [SE] value, 13.75 [0.09] AU for 2 SOD1 WT mice and 11.45 [0.03] AU for 2 SOD1 G93A mice; P = .002) and in brains of patients with PSP (80 controls: 39 females; mean age, 82 years, mean [SE] value, 6.8 [0.2] AU; 84 patients with PSP: 33 females, mean age 74 years, mean [SE] value, 6.8 [0.1] AU; β = -0.19; P = .009) or FTD (11 controls: 4 females; mean age, 67 years; mean [SE] value, 6.74 [0.05] AU; 17 patients with FTD: 10 females; mean age, 69 years; mean [SE] value, 6.53 [0.04] AU; P = .005). 29630712 2018
Entrez Id: 7124
Gene Symbol: TNF
TNF
0.010 Biomarker disease BEFREE On a sensitive electrochemiluminescence-based platform (Quickplex, Meso Scale Discovery®), we examined a panel of C-reactive protein (CRP) and eight selected cytokines, IFN-γ, IL-10, IL-18, IL-1β, IL-4, IL-6, TGF-β1, and TNF-α, among patients with PD (n = 46), MSA (n = 35), and PSP (n = 39) or controls (n = 31). 30390673 2018
Entrez Id: 1956
Gene Symbol: EGFR
EGFR
0.010 AlteredExpression disease BEFREE So, we aimed at investigating whether the expression of NRG1 or ErbB proteins are altered in progressive supranuclear palsy (PSP). 29319907 2018
Entrez Id: 1745
Gene Symbol: DLX1
DLX1
0.010 AlteredExpression disease BEFREE Our observations suggest that altered DLX1 methylation and expression contribute to pathogenesis of PSP by influencing MAPT. 30050033 2018
Entrez Id: 5336
Gene Symbol: PLCG2
PLCG2
0.010 GeneticVariation disease BEFREE PLCG2_rs72824905-G showed suggestive association with pathologically-confirmed MSA (OR = 2.39, p = 0.050) and PSP (OR = 1.97, p = 0.061), although in the opposite direction of that for AD. 30326945 2018
Entrez Id: 51400
Gene Symbol: PPME1
PPME1
0.010 Biomarker disease BEFREE Protein Phosphatase 2A and Its Methylation Modulating Enzymes LCMT-1 and PME-1 Are Dysregulated in Tauopathies of Progressive Supranuclear Palsy and Alzheimer Disease. 29281045 2018
Entrez Id: 2566
Gene Symbol: GABRG2
GABRG2
0.010 Biomarker disease BEFREE Interestingly, we found that GABA receptor genes, including GABRB2 and GABRG2, are significantly lower in symptomatic mouse models of tauopathy, as well as in brains with progressive supranuclear palsy. 30546007 2018
Entrez Id: 5788
Gene Symbol: PTPRC
PTPRC
0.010 AlteredExpression disease BEFREE Relative abundance of PTPRC mRNA was downregulated in PSP patients compared to PD and healthy controls, whereas there was no significant difference in the expression of DUSP8. 30248063 2018
Entrez Id: 3458
Gene Symbol: IFNG
IFNG
0.010 Biomarker disease BEFREE On a sensitive electrochemiluminescence-based platform (Quickplex, Meso Scale Discovery®), we examined a panel of C-reactive protein (CRP) and eight selected cytokines, IFN-γ, IL-10, IL-18, IL-1β, IL-4, IL-6, TGF-β1, and TNF-α, among patients with PD (n = 46), MSA (n = 35), and PSP (n = 39) or controls (n = 31). 30390673 2018
Entrez Id: 2551
Gene Symbol: GABPA
GABPA
0.010 Biomarker disease BEFREE These findings demonstrate that BFT activates the Nrf2/ARE pathway and is a promising therapeutic agent for the treatment of diseases with tau pathology, such as AD, frontotemporal dementia and progressive supranuclear palsy. 29860433 2018
Entrez Id: 55638
Gene Symbol: SYBU
SYBU
0.010 Biomarker disease BEFREE Tau, a microtubule-associated protein, is the main component of the intracellular filamentous inclusions that are involved in neurodegenerative diseases known as tauopathies, including Alzheimer disease (AD), frontotemporal dementia with parkinsonism-17 (FTDP-17), Pick disease (PiD), progressive supranuclear palsy (PSP) and corticobasal degeneration (CBD). 29951497 2018
Entrez Id: 5621
Gene Symbol: PRNP
PRNP
0.010 Biomarker disease BEFREE We here report protocols for production, purification, and fibrillation of three different proteins commonly found in cerebral amyloid; Aβ and Tau found in Alzheimer's disease, Chronic traumatic brain injury, Corticobasal degeneration, and Progressive Supranuclear Palsy and human prion protein found in Creutzfeldt-Jakob's disease. 29886532 2018
Entrez Id: 51115
Gene Symbol: RMDN1
RMDN1
0.010 Biomarker disease BEFREE Tau, a microtubule-associated protein, is the main component of the intracellular filamentous inclusions that are involved in neurodegenerative diseases known as tauopathies, including Alzheimer disease (AD), frontotemporal dementia with parkinsonism-17 (FTDP-17), Pick disease (PiD), progressive supranuclear palsy (PSP) and corticobasal degeneration (CBD). 29951497 2018
Entrez Id: 1401
Gene Symbol: CRP
CRP
0.010 Biomarker disease BEFREE On a sensitive electrochemiluminescence-based platform (Quickplex, Meso Scale Discovery®), we examined a panel of C-reactive protein (CRP) and eight selected cytokines, IFN-γ, IL-10, IL-18, IL-1β, IL-4, IL-6, TGF-β1, and TNF-α, among patients with PD (n = 46), MSA (n = 35), and PSP (n = 39) or controls (n = 31). 30390673 2018
Entrez Id: 23025
Gene Symbol: UNC13A
UNC13A
0.010 GeneticVariation disease BEFREE Among 124 876 cases and controls, genome-wide conjunction analyses of ALS, FTD, PD, AD, CBD, and PSP revealed significant genetic overlap between ALS and FTD at known ALS loci: rs13302855 and rs3849942 (nearest gene, C9orf72; P = .03 for rs13302855 and P = .005 for rs3849942) and rs4239633 (nearest gene, UNC13A; P = .03). 29630712 2018
Entrez Id: 7852
Gene Symbol: CXCR4
CXCR4
0.010 AlteredExpression disease BEFREE Beyond MAPT, we show dysregulation of CXCR4 expression in PSP, PD, and FTD brains, and mouse models of tau pathology. 29636460 2018