Article
Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9.
Blood - 17 Dec 2015
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
Abstract excerpt
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 deletion syndrome 5q33 critical deletion interval and involved in mitochondrial Fe-S biogenesis, result in CSA...
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