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Dokumenttyp:
journal article 
Autor(en):
Hildick-Smith, Gordon J; Cooney, Jeffrey D; Garone, Caterina; Kremer, Laura S; Haack, Tobias B; Thon, Jonathan N; Miyata, Non; Lieber, Daniel S; Calvo, Sarah E; Akman, H Orhan; Yien, Yvette Y; Huston, Nicholas C; Branco, Diana S; Shah, Dhvanit I; Freedman, Matthew L; Koehler, Carla M; Italiano, Joseph E; Merkenschlager, Andreas; Beblo, Skadi; Strom, Tim M; Meitinger, Thomas; Freisinger, Peter; Donati, M Alice; Prokisch, Holger; Mootha, Vamsi K; DiMauro, Salvatore; Paw, Barry H 
Titel:
Macrocytic anemia and mitochondriopathy resulting from a defect in sideroflexin 4. 
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 complementa...    »
 
Zeitschriftentitel:
Am J Hum Genet 
Jahr:
2013 
Band / Volume:
93 
Heft / Issue:
Seitenangaben Beitrag:
906-14 
Sprache:
eng 
Print-ISSN:
0002-9297 
TUM Einrichtung:
Institut für Humangenetik