Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9

The congenital sideroblastic anemias (CSAs) are relatively uncommon diseases characterized by defects in mitochondrial heme synthesis, iron-sulfur (Fe-S) cluster biogenesis, or protein synthesis. Here we demonstrate that mutations in HSPA9, a mitochondrial HSP70 homolog located in the chromosome 5q...

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Detalhes bibliográficos
Publicado no:Blood
Main Authors: Schmitz-Abe, Klaus, Ciesielski, Szymon J., Schmidt, Paul J., Campagna, Dean R., Rahimov, Fedik, Schilke, Brenda A., Cuijpers, Marloes, Rieneck, Klaus, Lausen, Birgitte, Linenberger, Michael L., Sendamarai, Anoop K., Guo, Chaoshe, Hofmann, Inga, Newburger, Peter E., Matthews, Dana, Shimamura, Akiko, Snijders, Pieter J. L. M., Towne, Meghan C., Niemeyer, Charlotte M., Watson, Henry G., Dziegiel, Morten H., Heeney, Matthew M., May, Alison, Bottomley, Sylvia S., Swinkels, Dorine W., Markianos, Kyriacos, Craig, Elizabeth A., Fleming, Mark D.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society of Hematology 2015
Assuntos:
Red Cells, Iron, and Erythropoiesis
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4683334/
https://ncbi.nlm.nih.gov/pubmed/26491070
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2015-09-659854
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