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Blood, 15 April 2007, Vol. 109, No. 8, pp. 3152-3154. Prepublished online as a Blood First Edition Paper on December 12, 2006; DOI 10.1182/blood-2006-09-001222. This Article Full Text (PDF) All Versions of this Article: blood-2006-09-001222v1 109/8/3152    most recent Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Rights and Permissions Citing Articles Citing Articles via HighWire Citing Articles via CrossRef Citing Articles via Google Scholar Google Scholar Articles by Flygare, J. Articles by Karlsson, S. Search for Related Content PubMed PubMed Citation Articles by Flygare, J. Articles by Karlsson, S. Social Bookmarking                   What's this?  Previous Article  |  Next Article  Submitted September 12, 2006 Accepted November 20, 2006 Diamond-Blackfan anemia: erythropoiesis lost in translation Johan Flygare and Stefan Karlsson* Department of Molecular Medicine and Gene Therapy, Lund Stem Cell Center, Lund, Sweden * Corresponding author; email: stefan.karlsson{at}med.lu.se. Diamond-Blackfan anemia (DBA) is a congenital erythroid aplasia that usually presents as macrocytic anemia during infancy. Linkage analysis suggests that at least four genes are associated with DBA of which two have been identified so far. The known DBA genes encode the ribosomal proteins S19 and S24 accounting for 25% and 2% of the patients respectively. Herein we review possible links between ribosomal proteins and erythropoiesis that might explain DBA pathogenesis. Recent studies and emerging findings suggest that a malfunctioning translational machinery may be a cause of anemia in DBA patients. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? This article has been cited by other articles: L. M. McNamee and M. H. Brodsky p53-Independent Apoptosis Limits DNA Damage-Induced Aneuploidy Genetics, June 1, 2009; 182(2): 423 - 435. [Abstract] [Full Text] [PDF] N. Danilova, K. M. Sakamoto, and S. Lin Ribosomal protein S19 deficiency in zebrafish leads to developmental abnormalities and defective erythropoiesis through activation of p53 protein family Blood, December 15, 2008; 112(13): 5228 - 5237. [Abstract] [Full Text] [PDF] M. A. Rey, S. P. Duffy, J. K. Brown, J. A. Kennedy, J. E. Dick, Y. Dror, and C. S. Tailor Enhanced alternative splicing of the FLVCR1 gene in Diamond Blackfan anemia disrupts FLVCR1 expression and function that are critical for erythropoiesis Haematologica, November 1, 2008; 93(11): 1617 - 1626. [Abstract] [Full Text] [PDF] S. Robledo, R. A. Idol, D. L. Crimmins, J. H. Ladenson, P. J. Mason, and M. Bessler The role of human ribosomal proteins in the maturation of rRNA and ribosome production RNA, September 1, 2008; 14(9): 1918 - 1929. [Abstract] [Full Text] [PDF] V. Choesmel, S. Fribourg, A.-H. Aguissa-Toure, N. Pinaud, P. Legrand, H. T. Gazda, and P.-E. Gleizes Mutation of ribosomal protein RPS24 in Diamond-Blackfan anemia results in a ribosome biogenesis disorder Hum. Mol. Genet., May 1, 2008; 17(9): 1253 - 1263. [Abstract] [Full Text] [PDF] L. Gutierrez, S. Tsukamoto, M. Suzuki, H. Yamamoto-Mukai, M. Yamamoto, S. Philipsen, and K. Ohneda Ablation of Gata1 in adult mice results in aplastic crisis, revealing its essential role in steady-state and stress erythropoiesis Blood, April 15, 2008; 111(8): 4375 - 4385. [Abstract] [Full Text] [PDF] L. A. Gregory, A.-H. Aguissa-Toure, N. Pinaud, P. Legrand, P.-E. Gleizes, and S. Fribourg Molecular basis of Diamond Blackfan anemia: structure and function analysis of RPS19 Nucleic Acids Res., September 27, 2007; 35(17): 5913 - 5921. [Abstract] [Full Text] [PDF] S. Karlsson Connecting ribosomes with bone marrow failure Blood, September 1, 2007; 110(5): 1402 - 1402. [Full Text] [PDF] B. P. Alter Diagnosis, Genetics, and Management of Inherited Bone Marrow Failure Syndromes Hematology, January 1, 2007; 2007(1): 29 - 39. [Abstract] [Full Text] [PDF]

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