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.
RNA-binding proteins and RNA metabolism : a new scenario in the pathogenesis of Amyotrophic Lateral Sclerosis / C. Colombrita, E. Onesto, C. Tiloca, N. Ticozzi, V. Silani, A. Ratti. - In: ARCHIVES ITALIENNES DE BIOLOGIE. - ISSN 0003-9829. - 149:1(2011), pp. 83-99.
RNA-binding proteins and RNA metabolism : a new scenario in the pathogenesis of Amyotrophic Lateral Sclerosis
C. Colombrita
;E. OnestoSecondo
;C. Tiloca;N. Ticozzi;V. SilaniPenultimo
;A. RattiUltimo
2011
Abstract
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.File | Dimensione | Formato | |
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