ALS/FTD Mutation-Induced Phase Transition of FUS Liquid Droplets and Reversible Hydrogels into Irreversible Hydrogels Impairs RNP Granule Function

@article{Murakami2015ALSFTDMP,
  title={ALS/FTD Mutation-Induced Phase Transition of FUS Liquid Droplets and Reversible Hydrogels into Irreversible Hydrogels Impairs RNP Granule Function},
  author={T. Murakami and S. Qamar and Julie Qiaojin Lin and G. K. Schierle and E. Rees and A. Miyashita and Ana R. Costa and R. Dodd and F. Chan and C. Michel and D. Kronenberg-Versteeg and Y. Li and Seung-Pil Yang and Y. Wakutani and William Meadows and R. Ferry and L. Dong and G. Tartaglia and G. Favrin and Wen‐lang Lin and D. Dickson and M. Zhen and D. Ron and G. Schmitt-Ulms and P. Fraser and N. Shneider and C. Holt and M. Vendruscolo and C. Kaminski and P. St George-Hyslop},
  journal={Neuron},
  year={2015},
  volume={88},
  pages={678 - 690}
}
Summary The mechanisms by which mutations in FUS and other RNA binding proteins cause ALS and FTD remain controversial. We propose a model in which low-complexity (LC) domains of FUS drive its physiologically reversible assembly into membrane-free, liquid droplet and hydrogel-like structures. ALS/FTD mutations in LC or non-LC domains induce further phase transition into poorly soluble fibrillar hydrogels distinct from conventional amyloids. These assemblies are necessary and sufficient for… Expand
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