Genotype–phenotype association of TARDBP mutations in Chinese patients with amyotrophic lateral sclerosis: a single-center study and systematic review of published literature
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Neurology"
DOI: 10.1007/s00415-022-11042-w
Abstract: This study aims to determine the genetic and clinical features of TARDBP-mutated patients in our cohort of Chinese patients with amyotrophic lateral sclerosis (ALS) combined with data in the literature. We performed TARDBP mutation screening… read more here.
Keywords: review; patients amyotrophic; chinese patients; tardbp ... See more keywords
TDP-43 gains function due to perturbed autoregulation in a Tardbp knock-in mouse model of ALS-FTD
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DOI: 10.1038/s41593-018-0113-5
Abstract: Amyotrophic lateral sclerosis–frontotemporal dementia (ALS-FTD) constitutes a devastating disease spectrum characterized by 43-kDa TAR DNA-binding protein (TDP-43) pathology. Understanding how TDP-43 contributes to neurodegeneration will help direct therapeutic efforts. Here we have created a TDP-43… read more here.
Keywords: autoregulation; tardbp; als ftd; knock mouse ... See more keywords
Upregulation of ATG7 attenuates motor neuron dysfunction associated with depletion of TARDBP/TDP-43
Sign Up to like & getrecommendations! Published in 2019 at "Autophagy"
DOI: 10.1080/15548627.2019.1635379
Abstract: ABSTRACT A shared neuropathological hallmark in amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) is nuclear clearance and cytoplasmic aggregation of TARDBP/TDP-43 (TAR DNA binding protein). We previously showed that the ability of TARDBP to… read more here.
Keywords: tardbp tdp; atg7; tardbp; motor ... See more keywords
PTK2/FAK regulates UPS impairment via SQSTM1/p62 phosphorylation in TARDBP/TDP-43 proteinopathies.
Sign Up to like & getrecommendations! Published in 2019 at "Autophagy"
DOI: 10.1080/15548627.2019.1686729
Abstract: TARDBP/TDP-43 (TAR DNA binding protein) proteinopathies are a common feature in a variety of neurodegenerative disorders, including amyotrophic lateral sclerosis (ALS), frontotemporal lobar degeneration (FTLD), and Alzheimer disease (AD). However, the molecular mechanisms underlying TARDBP-induced… read more here.
Keywords: tardbp tdp; ptk2 fak; tardbp; kinase ... See more keywords
TTR (transthyretin) leads the autophagy disaster relief team against TARDBP/TDP-43 proteinopathy.
Sign Up to like & getrecommendations! Published in 2023 at "Autophagy"
DOI: 10.1080/15548627.2023.2167690
Abstract: TTR (transthyretin) strikes a neuroprotective function in the prevention of amyloid-β (Aβ) deposition in Alzheimer disease (AD). Perturbation of the stringently controlled TARDBP/TDP-43 (TAR DNA binding protein) expression gives rise to cytoplasmic aggregation, characterized by… read more here.
Keywords: tardbp tdp; ttr transthyretin; tdp; tardbp ... See more keywords
Expanding the phenotype of TARDBP mutation in a Tunisian family with clinical phenotype heterogeneity
Sign Up to like & getrecommendations! Published in 2022 at "Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration"
DOI: 10.1080/21678421.2022.2089856
Abstract: Abstract We describe a Tunisian family carrier of the same rare mutation in TARDBP but developing different neurodegenerative disease with heterogenous features. We explored the possible genetic modifiers leading to the observed intrafamilial phenotypic variability.… read more here.
Keywords: phenotype; tunisian family; tardbp; mutation ... See more keywords
TARDBP Inhibits Porcine Epidemic Diarrhea Virus Replication through Degrading Viral Nucleocapsid Protein and Activating Type I Interferon Signaling
Sign Up to like & getrecommendations! Published in 2022 at "Journal of Virology"
DOI: 10.1128/jvi.00070-22
Abstract: PEDV refers to the highly contagious enteric coronavirus that has quickly spread globally and generated substantial financial damage to the global swine industry. During virus infection, the host regulates the innate immunity and autophagy process… read more here.
Keywords: replication; infection; tardbp; degradation ... See more keywords