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dc.contributor.author Kino, Yoshihiro
dc.contributor.author Washizu, Chika
dc.contributor.author Kurosawa, Masaru
dc.contributor.author Yamada, Mizuki
dc.contributor.author Miyazaki, Haruko
dc.contributor.author Akagi, Takumi
dc.contributor.author Hashikawa, Tsutomu
dc.contributor.author Doi, Hiroshi
dc.contributor.author Takumi, Toru
dc.contributor.author Hicks, Geoffrey G
dc.contributor.author Hattori, Nobutaka
dc.contributor.author Shimogori, Tomomi
dc.contributor.author Nukina, Nobuyuki
dc.date.accessioned 2015-10-08T17:55:29Z
dc.date.available 2015-10-08T17:55:29Z
dc.date.issued 2015-04-25
dc.identifier.citation Acta Neuropathologica Communications. 2015 Apr 25;3(1):24
dc.identifier.uri http://dx.doi.org/10.1186/s40478-015-0202-6
dc.identifier.uri http://hdl.handle.net/1993/30891
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.
dc.date.updated 2015-10-06T22:53:57Z


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