TARDBP, TAR DNA binding protein, 23435

N. diseases: 245; N. variants: 36
Source: ALL
Disease Score gda Association Type Type Original DB Sentence supporting the association PMID PMID Year
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.100 Biomarker group BEFREE TDP-43 represents the common pathologic substrate linking these neurodegenerative disorders. 17023659 2006
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.100 Biomarker group BEFREE Thus, TDP-43 defines a novel class of neurodegenerative diseases called TDP-43 proteinopathies. 17591968 2007
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.100 Biomarker group BEFREE The nuclear TAR DNA binding protein (TDP-43) is deposited in ubiquitin-positive inclusions in frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS), two clinicopathologically overlapping neurodegenerative diseases. 18068872 2009
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.100 Biomarker group BEFREE TDP-43 in neurodegenerative disorders. 18549326 2008
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.100 GeneticVariation group LHGDN TDP-43 in neurodegenerative disorders. 18549326 2008
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.100 GeneticVariation group LHGDN There are many precedents in neurodegenerative disease in which rare single-gene mutations have given great insight into understanding disease processes, which is why the TDP-43 mutations are potentially very important. 18592312 2008
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.100 GeneticVariation group BEFREE There are many precedents in neurodegenerative disease in which rare single-gene mutations have given great insight into understanding disease processes, which is why the TDP-43 mutations are potentially very important. 18592312 2008
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.100 Biomarker group LHGDN Lack of TAR-DNA binding protein-43 (TDP-43) pathology in human prion diseases. 18657254 2008
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.100 Biomarker group BEFREE Further, TDP-43 is found to be a component of the inclusions of an increasing number of neurodegenerative diseases. 18684309 2008
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.100 Biomarker group BEFREE Loss-of-function mutations in progranulin (GRN) cause ubiquitin- and TAR DNA-binding protein 43 (TDP-43)-positive frontotemporal dementia (FTLD-U), a progressive neurodegenerative disease affecting approximately 10% of early-onset dementia patients. 18723524 2008
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.100 GeneticVariation group BEFREE Three different heterozygous missense mutations in exon 6 of TARDBP (p.M337V, p.N345K, and p.I383V) were identified in the analysis of 92 familial ALS patients (3.3%), while no mutations were detected in 24 patients with sporadic ALS or 180 patients with other TDP-43-positive neurodegenerative diseases. 18802454 2008
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.100 Biomarker group BEFREE Inclusions seen in the muscle, brain and heart in VCP disease contain ubiquitin, beta amyloid and TDP-43, also seen in other neurodegenerative disorders thus implicating common pathways in their pathogenesis. 18845250 2008
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.100 Biomarker group LHGDN Since 2006, when the protein was reported to be present in inclusions in the neurons and/or glial cells of a range of neurodegenerative diseases, including amyotrophic lateral sclerosis (ALS), frontotemporal lobar degeneration with ubiquitin-positive, tau- and alpha-synuclein-negative inclusions (FTLD-U) and Alzheimer's disease (AD), many reports on the medical aspects of TDP-43 have been published. 18929508 2008
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.100 Biomarker group BEFREE Since 2006, when the protein was reported to be present in inclusions in the neurons and/or glial cells of a range of neurodegenerative diseases, including amyotrophic lateral sclerosis (ALS), frontotemporal lobar degeneration with ubiquitin-positive, tau- and alpha-synuclein-negative inclusions (FTLD-U) and Alzheimer's disease (AD), many reports on the medical aspects of TDP-43 have been published. 18929508 2008
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.100 Biomarker group BEFREE The recent discovery of pathological TDP-43 in both amyotrophic lateral sclerosis and frontotemporal lobar degeneration with ubiquitinated inclusions confirms that these are closely related conditions within a new biochemical class of neurodegenerative disease, the TDP-43 proteinopathies. 18989115 2008
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.100 Biomarker group BEFREE Our results further add to the hypothesis that TDP-43 may be involved in the pathology of a variety of neurodegenerative disorders. 19018245 2008
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.100 Biomarker group BEFREE Ever since the significance of pathological 43-kDa transactivating responsive sequence DNA-binding protein (TDP-43) for human disease has been recognized in amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration with ubiquitin positive inclusions (FTLD-U), a number of publications have emerged reporting on this pathology in a variety of neurodegenerative diseases. 19271105 2009
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.100 Biomarker group BEFREE Here we report the occurrence of TDP-43 inclusions in one other neurodegenerative disorder: familial British dementia. 19283396 2009
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.100 Biomarker group BEFREE TDP-43 nuclear protein is involved in several major neurodegenerative diseases that include frontotemporal lobar degeneration with ubiquitin (FTLD-U) bodies and amyotrophic lateral sclerosis (ALS). 19737636 2009
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.100 GeneticVariation group BEFREE The identification of mutations in the TARDBP and more recently the identification of mutations in the FUS gene as the cause of amyotrophic lateral sclerosis (ALS) is providing the field with new insight about the mechanisms involved in this severe neurodegenerative disease. 19741216 2009
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.100 Biomarker group BEFREE TDP-43 is an evolutionarily conserved RNA-binding protein implicated in the pathogenesis of frontotemporal dementia (FTD), sporadic and familial amyotrophic lateral sclerosis (ALS), and possibly other neurodegenerative diseases. 19781077 2009
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.100 GeneticVariation group BEFREE We report that mice expressing a mutant form of human TDP-43 develop a progressive and fatal neurodegenerative disease reminiscent of both ALS and FTLD-U. 19833869 2009
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.100 Biomarker group BEFREE Mutational analysis of TARDBP in neurodegenerative diseases. 20031275 2011
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.100 Biomarker group 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
CUI: C0524851
Disease: Neurodegenerative Disorders
Neurodegenerative Disorders
0.100 Biomarker group BEFREE Neuronal cytoplasmic and intranuclear aggregates of RNA-binding protein TDP-43 are a hallmark feature of neurodegenerative diseases such as amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD). 20133711 2010