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

doi:10.1074/jbc.M113.516492

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

Department of Chemistry

Research output: Contribution to journal › Article › peer-review

95 Citations (Scopus)

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 language	English
Pages (from-to)	1192-1202
Number of pages	11
Journal	Journal of Biological Chemistry
Volume	289
Issue number	2
DOIs	https://doi.org/10.1074/jbc.M113.516492
Publication status	Published - 2014 Jan 10

ASJC Scopus subject areas

Biochemistry
Molecular Biology
Cell Biology

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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.",

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AU - Nomura, Takao

AU - Watanabe, Shoji

AU - Kaneko, Kumi

AU - Yamanaka, Koji

AU - Nukina, Nobuyuki

AU - Furukawa, Yoshiaki

PY - 2014/1/10

Y1 - 2014/1/10

N2 - 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.

AB - 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.

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

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