Macrocytic Anemia And Mitochondriopathy Resulting From A Defect In Sideroflexin 4

dc.creatorHildick-Smith G.J.
dc.creatorCooney J.D.
dc.creatorGarone C.
dc.creatorKremer L.S.
dc.creatorHaack T.B.
dc.creatorThon J.N.
dc.creatorMiyata N.
dc.creatorLieber D.S.
dc.creatorCalvo S.E.
dc.creatorAkman H.O.
dc.creatorYien Y.Y.
dc.creatorHuston N.C.
dc.creatorBranco D.S.
dc.creatorShah D.I.
dc.creatorFreedman M.L.
dc.creatorKoehler C.M.
dc.creatorItaliano Jr. J.E.
dc.creatorMerkenschlager A.
dc.creatorBeblo S.
dc.creatorStrom T.M.
dc.creatorMeitinger T.
dc.creatorFreisinger P.
dc.creatorDonati M.A.
dc.creatorProkisch H.
dc.creatorMootha V.K.
dc.creatorDiMauro S.
dc.creatorPaw B.H.
dc.date2013
dc.date2015-06-25T19:09:03Z
dc.date2015-11-26T15:07:14Z
dc.date2015-06-25T19:09:03Z
dc.date2015-11-26T15:07:14Z
dc.date.accessioned2018-03-28T22:17:38Z
dc.date.available2018-03-28T22:17:38Z
dc.identifier
dc.identifierAmerican Journal Of Human Genetics. , v. 93, n. 5, p. 906 - 914, 2013.
dc.identifier29297
dc.identifier10.1016/j.ajhg.2013.09.011
dc.identifierhttp://www.scopus.com/inward/record.url?eid=2-s2.0-84890230767&partnerID=40&md5=5d69a8a406dd5d3bc748d40af377f024
dc.identifierhttp://www.repositorio.unicamp.br/handle/REPOSIP/88243
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/88243
dc.identifier2-s2.0-84890230767
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1257405
dc.descriptionWe used exome sequencing to identify mutations in sideroflexin 4 (SFXN4) in two children with mitochondrial disease (the more severe case also presented with macrocytic anemia). SFXN4 is an uncharacterized mitochondrial protein that localizes to the mitochondrial inner membrane. sfxn4 knockdown in zebrafish recapitulated the mitochondrial respiratory defect observed in both individuals and the macrocytic anemia with megaloblastic features of the more severe case. In vitro and in vivo complementation studies with fibroblasts from the affected individuals and zebrafish demonstrated the requirement of SFXN4 for mitochondrial respiratory homeostasis and erythropoiesis. Our findings establish mutations in SFXN4 as a cause of mitochondriopathy and macrocytic anemia. © 2013 by The American Society of Human Genetics. All rights reserved.
dc.description93
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dc.description906
dc.description914
dc.descriptionAHA; American Heart Association; American Society of Hematology; 6-FY09-289; March of Dimes Foundation; DK085217; NIH; National Institutes of Health; T32 HL007574; NIH; National Institutes of Health; F32 DK098866; NIH; National Institutes of Health; R01 GM61721; NIH; National Institutes of Health; R01 GM097136; NIH; National Institutes of Health; P01 HD032062; NIH; National Institutes of Health; R01 DK070838; NIH; National Institutes of Health; P01 HL032262; NIH; National Institutes of Health
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dc.languageen
dc.publisher
dc.relationAmerican Journal of Human Genetics
dc.rightsfechado
dc.sourceScopus
dc.titleMacrocytic Anemia And Mitochondriopathy Resulting From A Defect In Sideroflexin 4
dc.typeArtículos de revistas


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