Stress granules as crucibles of ALS pathogenesis

YR Li, OD King, J Shorter, AD Gitler - Journal of cell biology, 2013 - rupress.org
Journal of cell biology, 2013rupress.org
Amyotrophic lateral sclerosis (ALS) is a fatal human neurodegenerative disease affecting
primarily motor neurons. Two RNA-binding proteins, TDP-43 and FUS, aggregate in the
degenerating motor neurons of ALS patients, and mutations in the genes encoding these
proteins cause some forms of ALS. TDP-43 and FUS and several related RNA-binding
proteins harbor aggregation-promoting prion-like domains that allow them to rapidly self-
associate. This property is critical for the formation and dynamics of cellular …
Amyotrophic lateral sclerosis (ALS) is a fatal human neurodegenerative disease affecting primarily motor neurons. Two RNA-binding proteins, TDP-43 and FUS, aggregate in the degenerating motor neurons of ALS patients, and mutations in the genes encoding these proteins cause some forms of ALS. TDP-43 and FUS and several related RNA-binding proteins harbor aggregation-promoting prion-like domains that allow them to rapidly self-associate. This property is critical for the formation and dynamics of cellular ribonucleoprotein granules, the crucibles of RNA metabolism and homeostasis. Recent work connecting TDP-43 and FUS to stress granules has suggested how this cellular pathway, which involves protein aggregation as part of its normal function, might be coopted during disease pathogenesis.
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