Intranuclear aggregation of mutant FUS/TLS as a molecular pathomechanism of amyotrophic lateral sclerosis

Takao Nomura, Shoji Watanabe, Kumi Kaneko, Koji Yamanaka, Nobuyuki Nukina, Yoshiaki Furukawa

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Abstract

Background: Abnormal accumulation of mutant FUS/TLS is a pathological change in patients with amyotrophic lateralsclerosis (ALS). Results: A pathogenic mutation, G156E, increases propensities of FUS/TLS for aggregation in vitro and in vivo. Conclusion: Intranuclear aggregation of mutant FUS/TLS is a molecular pathomechanism of ALS. Significance: A loss of functional TLS/FUS in the nucleus will lead to neurodegeneration.

Original languageEnglish
Pages (from-to)1192-1202
Number of pages11
JournalJournal of Biological Chemistry
Volume289
Issue number2
DOIs
Publication statusPublished - 2014 Jan 10

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ASJC Scopus subject areas

  • Biochemistry
  • Molecular Biology
  • Cell Biology

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