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 We report the clinical course of an individual with a clinical FTLD and the as yet unreported findings of coexistent APBD with FTLD-U and transactivation response DNA-binding protein-43 (TDP-43)-positive inclusions at autopsy (or more accurately, FTLD-TDP). 22506890 2013
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
0.700 GeneticVariation disease BEFREE We therefore investigated 33 patients with FTLD-tau (including 9 with MAPT mutation) for TDP-43 pathological changes, and 45 patients with FTLD-TDP (including 12 with hexanucleotide expansion in C9ORF72 and 12 with GRN mutation), and 23 patients with motor neurone disease (3 with hexanucleotide expansion in C9ORF72), for tauopathy. 24861427 2014
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
0.700 Biomarker disease BEFREE The majority of pathologies associated with FTLD clinical syndromes include either tau-positive (FTLD-TAU) or TAR DNA-binding protein 43 (TDP-43)-positive (FTLD-TDP) inclusion bodies. 20369906 2010
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
0.700 Biomarker disease BEFREE The two major RNA Binding Proteins involved in Amyotrophic Lateral Sclerosisi and Frontotemporal Dementia are TDP-43 and FUST/TLS. 27015757 2016
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
0.700 Biomarker disease BEFREE Most importantly, the expression of hnRNP A1/A2 and PTB/nPTB is significantly altered in patients with frontotemporal dementia with TDP-43-positive inclusions (FTLD-TDP), indicating that perturbations in RNA metabolism and processing in FTLD-TDP are not exclusively driven by a loss of TDP-43 function. 26614389 2016
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
0.700 GeneticVariation disease BEFREE Here we provide a statistically rigorous method to account for staining batch effects in a large sample of brain tissue with frontotemporal lobar degeneration with tau inclusions (FTLD-Tau, <i>N</i> = 39) or TDP-43 inclusions (FTLD-TDP, <i>N</i> = 53). 31333403 2019
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
0.700 GeneticVariation disease BEFREE Pathologically two cases were classified as FTLD-TDP type A with TDP-43 positive inclusions, with additional p62-positive 'star-like' inclusions found in the hippocampal formation and cerebellum. 24286341 2014
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
0.700 Biomarker disease BEFREE Frontotemporal dementia-associated protein "phosphorylated TDP-43" localizes to atherosclerotic lesions of human carotid and main cerebral arteries. 31259382 2020
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
0.700 Biomarker disease BEFREE Frontotemporal dementia (FTD) may be associated with motor neuron disease, and the transactive response DNA-binding protein 43 (TDP-43) is a major pathological substrate underlying both diseases. 28449882 2017
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
0.700 GeneticVariation disease BEFREE In that report, we identified a 53-year-old man carrying a homozygous A382T missense mutation of the TARDBP gene with a complex neurological syndrome including amyotrophic lateral sclerosis, parkinsonian features, motor and vocal tics, and frontotemporal dementia (FTD). 21803454 2011
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
0.700 Biomarker disease BEFREE Thus, our results show that TDP-43 CTF expression recapitulates key biochemical features of pathological TDP-43 and support the hypothesis that the generation of TDP-43 CTFs is an important step in the pathogenesis of FTLD-U and ALS. 19164285 2009
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
0.700 GeneticVariation disease BEFREE TMEM106B was identified as a risk factor for frontotemporal lobar degeneration (FTD) with TAR DNA-binding protein 43 kDa inclusions. 25085782 2014
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
0.700 GeneticVariation disease BEFREE Mutations in the gene <i>TARDBP</i>, which encodes TAR DNA-binding protein 43 (TDP-43), are a rare cause of familial forms of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). 28286471 2017
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
0.700 Biomarker disease BEFREE As such, we provide new insight into the structural basis for TDP-43 function and aggregation, and we suggest that stabilization of TDP-43 homodimers, the physiologically active form of TDP-43, may be a promising therapeutic strategy for ALS and FTLD-TDP. 23575225 2013
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
0.700 Biomarker disease BEFREE Patients with schizophrenia exhibited changes consistent with TDP-43 and ubiquitin-positive frontotemporal dementia. 19336778 2009
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
0.700 GeneticVariation disease BEFREE Mutations in TDP-43 are associated with proteinaceous inclusions in neurons and are believed to be causative in neurodegenerative diseases such as frontotemporal dementia or amyotrophic lateral sclerosis. 28686708 2017
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
0.700 Biomarker disease BEFREE Frontotemporal dementia, motor neuron disease, and frontotemporal dementia-motor neuron disease are characterised by overlapping patterns of TAR DNA binding protein (TDP-43) pathology, while the chromosome 9 open reading frame 72 (C9orf72) repeat expansion is common across the disease spectrum. 26987909 2016
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
0.700 GeneticVariation disease BEFREE Different morphological characteristics of TDP-43 immunoreactive inclusions define the different variants of FTLD-TDP. 31266542 2019
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
0.700 GeneticVariation disease BEFREE These findings appear as the neuroimaging hallmark of double C9orf72 and TARDBP gene mutation with a bvFTD phenotype. 25138285 2015
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
0.700 Biomarker disease BEFREE TAR DNA binding protein 43 (TDP-43) is a major disease-associated protein involved in the pathogenesis of amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration with ubiquitin-positive inclusions (FTLD-U). 28334913 2017
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
0.700 Biomarker disease BEFREE Advances in genetics and pathology have supported the idea of a continuum between frontotemporal dementia (FTD) and motor neurone disease (MND), which is strengthened by the discovery of the trans-activating responsive (Tar) sequence DNA binding protein (TDP-43) as a key component in the underlying pathology of FTD, FTD-MND and sporadic and familial MND patients. 19556136 2009
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
0.700 Biomarker disease BEFREE Previous data suggest heterogeneity in laminar distribution of the pathology in the molecular disorder frontotemporal lobar degeneration (FTLD) with transactive response (TAR) DNA-binding protein of 43 kDa (TDP-43) proteinopathy (FTLD-TDP). 22804696 2013
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
0.700 AlteredExpression disease BEFREE Inclusions of TAR DNA-binding protein-43 (TDP-43), a nuclear protein that regulates transcription and RNA splicing, are the defining histopathological feature of frontotemporal lobar degeneration with ubiquitin-positive inclusions (FTLD-Us) and sporadic and familial forms of amyotrophic lateral sclerosis (ALS). 19383787 2009
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
0.700 Biomarker disease BEFREE TDP-43 proteinopathy (amyotrophic lateral sclerosis and frontotemporal lobar degeneration with ubiquitin-positive inclusions) is a newly categorized group of neurodegenerative disorders characterized by abnormal accumulation and mislocalization of nuclear TDP-43 protein in the neuronal cytoplasm. 20083106 2010
Entrez Id: 23435
Gene Symbol: TARDBP
TARDBP
0.700 Biomarker disease BEFREE TDP-43 (also known as TARDBP) is a pathological signature protein of neurodegenerative diseases, with TDP-43 proteinopathies including frontotemporal lobar degeneration (FTLD)-TDP and amyotrophic lateral sclerosis (ALS)-TDP. 24860144 2014