Gene Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
0.700 Biomarker disease BEFREE A member of a family with an autosomal dominant pattern of frontotemporal dementia (FTD) with a TDP-43 pathological substrate in other members and no mutations in FTD-associated genes developed behavioral variant FTD followed by Progressive Supranuclear Palsy. 24479957 2015
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
0.700 Biomarker disease BEFREE Dysregulation of RNA metabolism represents an important pathogenetic mechanism in both amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) due to the involvement of the DNA/RNA-binding proteins TDP-43 and FUS and, more recently, of C9ORF72. 27151080 2016
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
0.700 Biomarker disease BEFREE A 46-site International Frontotemporal Lobar Degeneration Collaboration was formed to collect cases of FTLD with TAR DNA-binding protein of 43-kDa (TDP-43)-positive inclusions (FTLD-TDP). 21482928 2011
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
0.700 Biomarker disease BEFREE Most cases of frontotemporal lobar degeneration (FTLD) are characterized by the abnormal accumulation of either the microtubule-associated protein tau or the transactive response DNA-binding protein with M(r) 43 kDa, TDP-43 (FTLD-tau and FTLD-TDP, respectively). 21603977 2011
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
0.700 Biomarker disease BEFREE Collectively, these observations suggest that TDP-43 deposition leads to targeted RNA instability in ALS and FTD, and may ultimately cause cell death by disrupting energy production and protein synthesis pathways. 30030424 2018
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
0.700 Biomarker disease BEFREE Amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD-TDP) are two neurodegenerative disorders characterized by the accumulation of TDP-43. 26002100 2015
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
0.700 Biomarker disease BEFREE Pathologically, C9ORF72 expansion cases show a combination of FTLD-TDP and classical ALS with abnormal accumulation of TDP-43 into neuronal and oligodendroglial inclusions consistently seen in the frontal and temporal cortex, hippocampus and pyramidal motor system. 24356984 2014
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
0.700 GeneticVariation disease BEFREE Results revealed: 1) prevalence is approximately 10%, 2) TDP-43 type B and FUS pathologies might have relatively high frequency of psychosis, 3) psychosis in FTD is higher with genetic mutations of C9ORF72 and GRN, 4) imaging researches did not achieve conclusive results, and 5) no treatment for psychosis in FTD is currently available. 24898651 2014
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
0.700 Biomarker disease BEFREE Finally, we review current mouse models of TDP-43 and discuss their similarities and potential relevance to human TDP-43 proteinopathies including ALS and FTLD-TDP. 21783422 2011
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
0.700 Biomarker disease BEFREE FUS/TLS (fused in sarcoma/translocated in liposarcoma) and TDP-43 are integrally involved in amyotrophic lateral sclerosis (ALS) and frontotemporal dementia. 23023293 2012
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
0.700 Biomarker disease BEFREE FALS patients with C9ORF72 expansions had more frequent association with FTD than the other FALS patients (p<0.0001 vs SOD1, p=0.04 vs TARDBP, p=0.004 vs FUS, p=0.03 vs other FALS). 22499346 2012
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
0.700 Biomarker disease BEFREE Our study suggests that the progression of FTLD-TDP reflects the templated cell-to-cell transneuronal spread of pathological TDP-43. 30310141 2018
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
0.700 Biomarker disease BEFREE TDP-43 and frontotemporal dementia. 19664364 2009
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
0.700 GeneticVariation disease BEFREE TARDBP mutation screening should be considered in familial frontotemporal dementia cases, even without signs or symptoms of motor neuron disease, especially when other more frequent causes of genetic frontotemporal dementia (i.e. 25853458 2015
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
0.700 Biomarker disease BEFREE Using an atomic force microscopy based biopanning protocol developed in our lab, we previously isolated 23 TDP-43 reactive antibody fragments with preference for human ALS brain tissue relative to frontotemporal dementia, a related neurodegeneration, and healthy samples from phage-displayed single chain antibody fragment (scFv) libraries. 28122516 2017
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
0.700 Biomarker disease BEFREE These findings reveal a novel role for endogenous TDP-43 in neuronal specification and suggest that the FTD/ALS-associated RNA-binding protein TDP-43 functions to ensure the robustness of genetic control programs. 23042786 2013
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
0.700 Biomarker disease BEFREE The seminal discoveries of accumulation of TDP-43 in most cases of ALS and the most frequent form of FTD, frontotemporal lobar degeneration with ubiquitinated inclusions, followed by identification of FUS as the novel pathological protein in a small subset of patients with ALS and various FTD subtypes provide clear evidence that these disorders are related. 20864052 2010
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
0.700 Biomarker disease BEFREE Anti-TDP-43 immunohistochemistry and the recent development of novel tools, such as phosphorylation-specific TDP-43 antibodies, have increased our knowledge about the spectrum of pathological changes associated with FTLD-U and ALS and moreover, facilitated the neuropathological routine diagnosis of these conditions. 19333444 2009
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
0.700 Biomarker disease BEFREE TAR DNA binding protein 43 (TDP-43) has been considered a signature protein in frontotemporal dementia and amyotrophic lateral sclerosis (ALS), but not in ALS associated with the superoxide dismutase 1 (SOD1) gene mutations (ALS1). 19104447 2009
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
0.700 Biomarker disease BEFREE Recent evidence shows that TDP-43, a RNA-binding protein associated with frontotemporal dementia and amyotrophic lateral sclerosis, exists in a physiological and functional nuclear oligomeric form, whose destabilization may represent a prerequisite for misfolding, toxicity and subsequent pathological deposition. 29070802 2017
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
0.700 Biomarker disease BEFREE Amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) have distinct clinical features but a common pathology--cytoplasmic inclusions rich in transactive response element DNA-binding protein of 43 kDa (TDP43). 24974230 2014
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
0.700 Biomarker disease BEFREE MATR3 is an RNA- and DNA-binding protein that interacts with TDP-43, a disease protein linked to amyotrophic lateral sclerosis (ALS) and frontotemporal dementia. 24686783 2014
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
0.700 Biomarker disease BEFREE This breakthrough provides an opportunity to re-evaluate longstanding concepts regarding the cause and natural history of ALS, coming soon after the pathological unification of ALS with frontotemporal dementia through a shared pathological signature of cytoplasmic inclusions of the ubiquitinated protein TDP-43. 23415570 2013
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
0.700 GeneticVariation disease BEFREE Genetic variants at TMEM106B influence risk for the most common neuropathological subtype of FTLD, characterized by inclusions of TAR DNA-binding protein of 43 kDa (FTLD-TDP). 24442578 2014
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
0.700 GeneticVariation disease BEFREE We generated multiple iPSC lines from an FTD/ALS patient with the TARDBP A90V mutation and from an unaffected family member who lacked the mutation. 24143176 2013