TDP-43: a DNA and RNA binding protein with roles in neurodegenerative diseases.

摘要: Transactive response DNA binding protein 43 kDa (TDP-43) is a and RNA involved in processing with structural resemblance to heterogeneous ribonucleoproteins (hnRNPs). TDP-43 serves multiple functions roles transcriptional regulation, pre-mRNA splicing translational regulation. also crucial for embryonic development increasing evidence indirectly implicating its involvement other cellular processes including microRNA biogenesis, apoptosis cell division. The role of neurodegeneration has been actively studied since identification as major component the ubiquitinated inclusions seen amyotrophic lateral sclerosis (ALS) frontotemporal lobar degeneration (FTLD). pathology identified several neurodegenerative diseases. These disorders are collectively referred proteinopathies. rare mutations sporadic familial forms ALS FTLD suggests plays an important pathogenic role, rather than merely being marker disease.