Please use this identifier to cite or link to this item: http://repositorio.unicamp.br/jspui/handle/REPOSIP/88243
Type: Artigo de periódico
Title: Macrocytic Anemia And Mitochondriopathy Resulting From A Defect In Sideroflexin 4
Author: Hildick-Smith G.J.
Cooney J.D.
Garone C.
Kremer L.S.
Haack T.B.
Thon J.N.
Miyata N.
Lieber D.S.
Calvo S.E.
Akman H.O.
Yien Y.Y.
Huston N.C.
Branco D.S.
Shah D.I.
Freedman M.L.
Koehler C.M.
Italiano Jr. J.E.
Merkenschlager A.
Beblo S.
Strom T.M.
Meitinger T.
Freisinger P.
Donati M.A.
Prokisch H.
Mootha V.K.
DiMauro S.
Paw B.H.
Abstract: We 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.
Editor: 
Rights: fechado
Identifier DOI: 10.1016/j.ajhg.2013.09.011
Address: http://www.scopus.com/inward/record.url?eid=2-s2.0-84890230767&partnerID=40&md5=5d69a8a406dd5d3bc748d40af377f024
Date Issue: 2013
Appears in Collections:Unicamp - Artigos e Outros Documentos

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