Cited 0 times in Scipus Cited Count

Perturbation of NCOA6 leads to dilated cardiomyopathy.

DC Field Value Language
dc.contributor.authorRoh, JI-
dc.contributor.authorCheong, C-
dc.contributor.authorSung, YH-
dc.contributor.authorLee, J-
dc.contributor.authorOh, J-
dc.contributor.authorLee, BS-
dc.contributor.authorLee, JE-
dc.contributor.authorGho, YS-
dc.contributor.authorKim, DK-
dc.contributor.authorPark, CB-
dc.contributor.authorLee, JH-
dc.contributor.authorLee, JW-
dc.contributor.authorKang, SM-
dc.contributor.authorLee, HW-
dc.date.accessioned2015-11-15T23:46:40Z-
dc.date.available2015-11-15T23:46:40Z-
dc.date.issued2014-
dc.identifier.urihttp://repository.ajou.ac.kr/handle/201003/11970-
dc.description.abstractDilated cardiomyopathy (DCM) is a progressive heart disease characterized by left ventricular dilation and contractile dysfunction. Although many candidate genes have been identified with mouse models, few of them have been shown to be associated with DCM in humans. Germline depletion of Ncoa6, a nuclear hormone receptor coactivator, leads to embryonic lethality and heart defects. However, it is unclear whether Ncoa6 mutations cause heart diseases in adults. Here, we report that two independent mouse models of NCOA6 dysfunction develop severe DCM with impaired mitochondrial function and reduced activity of peroxisome proliferator-activated receptor δ (PPARδ), an NCOA6 target critical for normal heart function. Sequencing of NCOA6-coding regions revealed three independent nonsynonymous mutations present in 5 of 50 (10%) patients with idiopathic DCM (iDCM). These data suggest that malfunction of NCOA6 can cause DCM in humans.-
dc.language.isoen-
dc.subject.MESHAmino Acid Sequence-
dc.subject.MESHAnimals-
dc.subject.MESHBase Sequence-
dc.subject.MESHCardiomyopathy, Dilated-
dc.subject.MESHCells, Cultured-
dc.subject.MESHGene Knockout Techniques-
dc.subject.MESHHumans-
dc.subject.MESHMice, Transgenic-
dc.subject.MESHMitochondria, Heart-
dc.subject.MESHMolecular Sequence Data-
dc.subject.MESHMutation, Missense-
dc.subject.MESHMyocardium-
dc.subject.MESHMyocytes, Cardiac-
dc.subject.MESHNuclear Receptor Coactivators-
dc.subject.MESHPPAR delta-
dc.titlePerturbation of NCOA6 leads to dilated cardiomyopathy.-
dc.typeArticle-
dc.identifier.pmid25131203-
dc.identifier.urlhttps://www.ncbi.nlm.nih.gov/pmc/articles/PMC4150217/-
dc.contributor.affiliatedAuthor박, 찬배-
dc.type.localJournal Papers-
dc.identifier.doi10.1016/j.celrep.2014.07.027-
dc.citation.titleCell reports-
dc.citation.volume8-
dc.citation.number4-
dc.citation.date2014-
dc.citation.startPage991-
dc.citation.endPage998-
dc.identifier.bibliographicCitationCell reports, 8(4). : 991-998, 2014-
dc.identifier.eissn2211-1247-
dc.relation.journalidJ022111247-
Appears in Collections:
Journal Papers > School of Medicine / Graduate School of Medicine > Physiology
Files in This Item:
25131203.pdfDownload

qrcode

해당 아이템을 이메일로 공유하기 원하시면 인증을 거치시기 바랍니다.

Items in DSpace are protected by copyright, with all rights reserved, unless otherwise indicated.

Browse