TDP-43 and FUS/TLS: emerging roles in RNA processing and neurodegeneration
C Lagier-Tourenne, M Polymenidou… - Human molecular …, 2010 - academic.oup.com
Human molecular genetics, 2010•academic.oup.com
Amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) are
neurodegenerative diseases with clinical and pathological overlap. Landmark discoveries of
mutations in the transactive response DNA-binding protein (TDP-43) and fused in
sarcoma/translocated in liposarcoma (FUS/TLS) as causative of ALS and FTLD, combined
with the abnormal aggregation of these proteins, have initiated a shifting paradigm for the
underlying pathogenesis of multiple neurodegenerative diseases. TDP-43 and FUS/TLS are …
neurodegenerative diseases with clinical and pathological overlap. Landmark discoveries of
mutations in the transactive response DNA-binding protein (TDP-43) and fused in
sarcoma/translocated in liposarcoma (FUS/TLS) as causative of ALS and FTLD, combined
with the abnormal aggregation of these proteins, have initiated a shifting paradigm for the
underlying pathogenesis of multiple neurodegenerative diseases. TDP-43 and FUS/TLS are …
Abstract
Amyotrophic lateral sclerosis (ALS) and frontotemporal lobar degeneration (FTLD) are neurodegenerative diseases with clinical and pathological overlap. Landmark discoveries of mutations in the transactive response DNA-binding protein (TDP-43) and fused in sarcoma/translocated in liposarcoma (FUS/TLS) as causative of ALS and FTLD, combined with the abnormal aggregation of these proteins, have initiated a shifting paradigm for the underlying pathogenesis of multiple neurodegenerative diseases. TDP-43 and FUS/TLS are both RNA/DNA-binding proteins with striking structural and functional similarities. Their association with ALS and other neurodegenerative diseases is redirecting research efforts toward understanding the role of RNA processing regulation in neurodegeneration.
Oxford University Press