Novel TARDBP missense mutation caused familial amyotrophic lateral sclerosis with frontotemporal dementia and parkinsonism
Sign Up to like & getrecommendations! Published in 2021 at "Neurobiology of aging"
DOI: 10.1016/j.neurobiolaging.2021.05.017
Abstract: Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder that predominately involves the motor neurons in the brain and spinal cord. The TARDBP gene, encoding TAR DNA-binding protein 43 (TDP-43) protein, has been identified as… read more here.
Keywords: mutation; tardbp mutations; amyotrophic lateral; parkinsonism ... See more keywords
RRM adjacent TARDBP mutations disrupt RNA binding and enhance TDP-43 proteinopathy
Sign Up to like & getrecommendations! Published in 2019 at "Brain"
DOI: 10.1093/brain/awz313
Abstract: TDP-43 is a DNA/RNA binding protein, but whether its interactions with RNA are relevant to inclusion formation in ALS is unclear. Chen et al. report that mutated forms of TDP-43 that are unable to bind… read more here.
Keywords: mutations disrupt; tardbp mutations; tdp; rrm adjacent ... See more keywords