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Age-dependent gait abnormalities in mice lacking the Rnf170 gene linked to human autosomal-dominant sensory ataxia

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dc.contributor.authorYoungsoo Kim-
dc.contributor.authorSeong Hun Kim-
dc.contributor.authorKook Hwan Kim-
dc.contributor.authorSujin Chae-
dc.contributor.authorChanki Kim-
dc.contributor.authorJeongjin Kim-
dc.contributor.authorHee-Sup Shin-
dc.contributor.authorMyung-Shik Lee-
dc.contributor.authorDaesoo Kim-
dc.date.available2016-07-05T06:36:47Z-
dc.date.created2016-03-17-
dc.date.issued2015-12-
dc.identifier.issn0964-6906-
dc.identifier.urihttps://pr.ibs.re.kr/handle/8788114/2631-
dc.description.abstractReally interesting new gene (RING) finger protein 170 (RNF170) is an E3 ubiquitin ligase known to mediate ubiquitinationdependent degradation of type-I inositol 1,4,5-trisphosphate receptors (ITPR1). It has recently been demonstrated that a point mutation of RNF170 gene is linked with autosomal-dominant sensory ataxia (ADSA), which is characterized by an agedependent increase of walking abnormalities, a rare genetic disorder reported in only two families. Although this mutant allele is known to be dominant, the functional identity thereof has not been clearly established. Here, we generated mice lacking Rnf170 (Rnf170-/-) to evaluate the effect of its loss of function in vivo. Remarkably, Rnf170-/- mice began to develop gait abnormalities in old age (12 months) in the form of asynchronous stepping between diagonal limb pairs with a fixed step sequence during locomotion, while age-matched wild-type mice showed stable gait patterns using several step sequence repertoires. As reported in ADSA patients, they also showed a reduced sensitivity for proprioception and thermal nociception. Protein blot analysis revealed that the amount of Itpr1 protein was significantly elevated in the cerebellum and spinal cord but intact in the cerebral cortex in Rnf170-/- mice. These results suggest that the loss of Rnf170 gene function mediates ADSAassociated phenotypes and this gives insights on the cure of patients with ADSA and other age-dependent walking abnormalities. © The Author 2015. Published by Oxford University Press-
dc.description.uri1-
dc.language영어-
dc.publisherOXFORD UNIV PRESS-
dc.titleAge-dependent gait abnormalities in mice lacking the Rnf170 gene linked to human autosomal-dominant sensory ataxia-
dc.typeArticle-
dc.type.rimsART-
dc.identifier.wosid000368373600004-
dc.identifier.scopusid2-s2.0-84959244413-
dc.identifier.rimsid22864ko
dc.date.tcdate2018-10-01-
dc.contributor.affiliatedAuthorChanki Kim-
dc.contributor.affiliatedAuthorHee-Sup Shin-
dc.identifier.doi10.1093/hmg/ddv417-
dc.identifier.bibliographicCitationHUMAN MOLECULAR GENETICS, v.24, no.25, pp.7196 - 7206-
dc.citation.titleHUMAN MOLECULAR GENETICS-
dc.citation.volume24-
dc.citation.number25-
dc.citation.startPage7196-
dc.citation.endPage7206-
dc.date.scptcdate2018-10-01-
dc.description.wostc2-
dc.description.scptc2-
dc.description.journalClass1-
dc.description.journalRegisteredClassscie-
dc.description.journalRegisteredClassscopus-
Appears in Collections:
Center for Cognition and Sociality(인지 및 사회성 연구단) > 1. Journal Papers (저널논문)
Center for Cognition and Sociality(인지 및 사회성 연구단) > Social Neuroscience Group(사회성 뇌과학 그룹) > 1. Journal Papers (저널논문)
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Hum. Mol. Genet.-2015-Kim-7196-206(김대수).pdfDownload

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