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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, 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.*

Macrocytic anemia and mitochondriopathy resulting from a defect in sideroflexin 4.

Am. J. Hum. Genet. 93, 906-914 (2013)
DOI PMC
Open Access Green möglich sobald Postprint bei der ZB eingereicht worden ist.
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.
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Publikationstyp Artikel: Journalartikel
Dokumenttyp Wissenschaftlicher Artikel
Schlagwörter Whole-genome ; Disorders ; Disease ; Protein ; Mutations ; Gene ; Identification ; Deficiency ; Consortium ; Mice
ISSN (print) / ISBN 0002-9297
e-ISSN 1537-6605
Zeitschrift American Journal of Human Genetics, The
Quellenangaben Band: 93, Heft: 5, Seiten: 906-914 Artikelnummer: , Supplement: ,
Verlag Elsevier
Verlagsort New York, NY
Begutachtungsstatus Peer reviewed
Institut(e) Institute of Human Genetics (IHG)