Show simple item record Kino, Yoshihiro Washizu, Chika Kurosawa, Masaru Yamada, Mizuki Miyazaki, Haruko Akagi, Takumi Hashikawa, Tsutomu Doi, Hiroshi Takumi, Toru Hicks, Geoffrey G Hattori, Nobutaka Shimogori, Tomomi Nukina, Nobuyuki 2015-10-08T17:55:29Z 2015-10-08T17:55:29Z 2015-04-25
dc.identifier.citation Acta Neuropathologica Communications. 2015 Apr 25;3(1):24
dc.description.abstract Abstract Introduction FUS/TLS is an RNA-binding protein whose genetic mutations or pathological inclusions are associated with neurological diseases including amyotrophic lateral sclerosis (ALS), frontotemporal lobar degeneration, and essential tremor (ET). It is unclear whether their pathogenesis is mediated by gain or loss of function of FUS/TLS. Results Here, we established outbred FUS/TLS knockout mice to clarify the effects of FUS/TLS dysfunction in vivo. We obtained homozygous knockout mice that grew into adulthood. Importantly, they did not manifest ALS- or ET-like phenotypes until nearly two years. Instead, they showed distinct histological and behavioral alterations including vacuolation in hippocampus, hyperactivity, and reduction in anxiety-like behavior. Knockout mice showed transcriptome alterations including upregulation of Taf15 and Hnrnpa1, while they have normal morphology of RNA-related granules such as Gems. Conclusions Collectively, FUS/TLS depletion causes phenotypes possibly related to neuropsychiatric and neurodegenerative conditions, but distinct from ALS and ET, together with specific alterations in RNA metabolisms.
dc.rights info:eu-repo/semantics/openAccess
dc.title FUS/TLS deficiency causes behavioral and pathological abnormalities distinct from amyotrophic lateral sclerosis
dc.type Journal Article
dc.type info:eu-repo/semantics/article
dc.language.rfc3066 en
dc.rights.holder Kino et al.; licensee BioMed Central. 2015-10-06T22:53:57Z

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