TDP-43: a DNA and RNA binding protein with roles in neurodegenerative diseases.
Transactive response DNA binding protein 43 kDa (TDP-43) is a DNA and RNA binding protein involved in RNA processing and with structural resemblance to heterogeneous ribonucleoproteins (hnRNPs). TDP-43 serves multiple functions with roles in transcriptional regulation, pre-mRNA splicing and translational regulation. TDP-43 is also crucial for embryonic development with increasing evidence indirectly implicating its involvement in other cellular processes including microRNA biogenesis, apoptosis and cell division. The role of TDP-43 in neurodegeneration has been actively studied since identification as a major component of the ubiquitinated inclusions seen in amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD). TDP-43 pathology has also been identified in several other neurodegenerative diseases. These disorders are collectively referred to as TDP-43 proteinopathies. The identification of rare TDP-43 mutations in sporadic and familial forms of ALS and FTLD suggests TDP-43 plays an important pathogenic role, rather than merely being a marker of the disease.
Warraich
Sadaf T
ST
Northcott Neuroscience Laboratory, ANZAC Research Institute, Sydney, NSW, Australia.
Yang
Shu
S
Nicholson
Garth A
GA
Blair
Ian P
IP
D000818:Animals; D004268:DNA-Binding Proteins / Q000235:genetics / Q000378:metabolism*; D018450:Disease Progression; D047108:Embryonic Development; D006801:Humans; D002479:Inclusion Bodies / Q000378:metabolism* / Q000473:pathology; D009154:Mutation / Q000235:genetics; D012323:RNA Processing, Post-Transcriptional; D012326:RNA Splicing; D016601:RNA-Binding Proteins / Q000235:genetics / Q000378:metabolism*; D057177:TDP-43 Proteinopathies / Q000235:genetics / Q000378:metabolism* / Q000473:pathology / Q000503:physiopathology; D015533:Transcriptional Activation
D004268:DNA-Binding Proteins; D016601:RNA-Binding Proteins