FTLD/ALS-linked TDP-43 mutations do not alter TDP-43’s ability to self-regulate its expression in Drosophila
Sign Up to like & getrecommendations! Published in 2018 at "Brain Research"
DOI: 10.1016/j.brainres.2018.05.021
Abstract: TDP-43 is a major disease-causing protein in amyotrophic lateral sclerosis (ALS) and Frontotemporal Lobar Degeneration (FTLD). Today, >50 missense mutations in the TARDBP/TDP-43 gene have been described in patients with FTLD/ALS. However, the functional consequences… read more here.
Keywords: protein; linked tdp; tdp mutations; als linked ... See more keywords
FUS Alters circRNA Metabolism in Human Motor Neurons Carrying the ALS-Linked P525L Mutation
Sign Up to like & getrecommendations! Published in 2023 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms24043181
Abstract: Deregulation of RNA metabolism has emerged as one of the key events leading to the degeneration of motor neurons (MNs) in Amyotrophic Lateral Sclerosis (ALS) disease. Indeed, mutations on RNA-binding proteins (RBPs) or on proteins… read more here.
Keywords: metabolism; motor neurons; als linked; mutation ... See more keywords