Article
TDP-43 mutations causing amyotrophic lateral sclerosis are associated with altered expression of RNA-binding protein hnRNP K and affect the Nrf2 antioxidant pathway.
Human molecular genetics - 1 May 2017
Moujalled Diane, Grubman Alexandra, Acevedo Karla, Yang Shu, Ke Yazi D, Moujalled Donia M, Duncan Clare, Caragounis Aphrodite, Perera Nirma D, Turner Bradley J, Prudencio Mercedes, Petrucelli Leonard, Blair Ian, Ittner Lars M, Crouch Peter J, Liddell Jeffrey R, White Anthony R
Abstract excerpt
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). Our previous studies found a direct association between TDP-43 and heterogeneous nuclear ribonucleoprotein K (hnRNP K). In this study, utilizing ALS patient fibroblasts harboring a...
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