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The TARDBP gene encodes the TDP-43 protein, initially found to repress HIV-1 transcription by binding TAR DNA. TDP-43 has since been shown to bind RNA as well as DNA, and have multiple functions in transcriptional repression, translational regulation and pre-mRNA splicing.TDP-43, is the major component of the tau-negative and ubiquitin-positive inclusions that characterize amyotrophic lateral sclerosis (ALS) and the most common pathological subtype of frontotemporal lobar degeneration (FTLD-U). Various forms of TDP-43 exist, including 18-35 kDa of cleaved C-terminal fragments, 45-50 kDa phospho-protein, 55 kDa glycosylated form, 75 kDa hyperphosphorylated form, and 90-300 kDa cross-linked form.


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