RNA-binding proteins and RNA metabolism: a new scenario in the pathogenesis of amyotrophic lateral sclerosis

Claudia Colombrita, Elisa Onesto, Cinzia Tiloca, Nicola Ticozzi, Vincenzo Silani, Antonia Ratti


Several RNA-processing genes have been implicated in the pathogenesis of Amyotrophic lateral sclerosis (ALS). In particular, causative mutations in the genes encoding for two DNA/RNA binding proteins, TAR DNA binding protein-43 (TDP-43) and fused in sarcoma/translocated in liposarcoma (FUS/TLS), were recently identified in ALS patients. These genetic findings and the presence of abnormal aggregates of these two RNA-binding proteins in ALS affected tissues suggest that molecular mechanisms regulating RNA metabolism are implicated in ALS pathogenesis through common pathways. In this review similarities and differences between TDP-43 and FUS/TLS proteins and their activities in physiological and pathological conditions will be discussed.


TAR DNA binding protein-43 (TDP-43); fused in sarcoma/translocated in liposarcoma (FUS/TLS); RNA-binding protein (RBP); protein aggregates.

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DOI: https://doi.org/10.4449/aib.v149i1.1261


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