Diamond-Blackfan anemia: a ribosomal puzzle

被引:27
作者
Dianzani, Irma [1 ]
Loreni, Fabrizio [2 ]
机构
[1] Univ Piemonte Orientale, Dipartimento Sci Med, Novara, Italy
[2] Univ Roma Tor Vergata, Dipartimento Biol, I-00173 Rome, Italy
来源
HAEMATOLOGICA-THE HEMATOLOGY JOURNAL | 2008年 / 93卷 / 11期
关键词
D O I
10.3324/haematol.2008.000513
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:1601 / 1604
页数:4
相关论文
共 28 条
[1]   Missense mutations associated with Diamond-Blackfan anemia affect the assembly of ribosomal protein S19 into the ribosome [J].
Angelini, Mara ;
Cannata, Stefano ;
Mercaldo, Valentina ;
Gibello, Luisa ;
Santoro, Claudio ;
Dianzani, Irma ;
Loreni, Fabrizio .
HUMAN MOLECULAR GENETICS, 2007, 16 (14) :1720-1727
[2]  
BAGNARA GP, 1991, BLOOD, V78, P2203
[3]  
BORIA I, 2008, HUM MUTAT 0909
[4]   RPS19 mutations in patients with Diamond-Blackfan anemia [J].
Campagnoli, Maria Francesca ;
Ramenghi, Ugo ;
Armiraglio, Marta ;
Quarello, Paola ;
Garelli, Emanuela ;
Carando, Adriana ;
Avondo, Federica ;
Pavesi, Elisa ;
Fribourg, Sebastien ;
Gleizes, Pierre-Emmanuel ;
Loreni, Fabrizio ;
Dianzani, Irma .
HUMAN MUTATION, 2008, 29 (07) :911-920
[5]   Mutation of ribosomal protein RPS24 in Diamond-Blackfan anemia results in a ribosome biogenesis disorder [J].
Choesmel, Valerie ;
Fribourg, Sebastien ;
Aguissa-Toure, Almass-Houd ;
Pinaud, Noel ;
Legrand, Pierre ;
Gazda, Hanna T. ;
Gleizes, Pierre-Emmanuel .
HUMAN MOLECULAR GENETICS, 2008, 17 (09) :1253-1263
[6]   Ribosomal protein S17 gene (RPS17) is mutated in Diamond-Blackfan anemia [J].
Cmejla, Radek ;
Cmejlova, Jana ;
Handrkova, Helena ;
Petrak, Jiri ;
Pospisilova, Dagmar .
HUMAN MUTATION, 2007, 28 (12) :1178-1182
[7]  
Cmejlova J, 2006, HAEMATOLOGICA, V91, P1456
[8]   Study of the effects of proteasome inhibitors on ribosomal protein S19 (RPS19) mutants, identified in patients with Diamond-Blackfan anemia [J].
Cretien, Aurore ;
Hurtaud, Corinne ;
Moniz, Helene ;
Proust, Alexis ;
Marie, Isabelle ;
Wagner-Ballon, Orianne ;
Choesmel, Valerie ;
Gleizes, Pierre-Emmanuel ;
Leblanc, Thierry ;
Delaunay, Jean ;
Tchernia, Gil ;
Mohandas, Narla ;
Da Costa, Lydie .
HAEMATOLOGICA-THE HEMATOLOGY JOURNAL, 2008, 93 (11) :1627-1634
[9]  
DANILOVA N, 2008, BLOOD 0530
[10]   The gene encoding ribosomal protein S19 is mutated in Diamond-Blackfan anaemia [J].
Draptchinskaia, N ;
Gustavsson, P ;
Andersson, B ;
Pettersson, M ;
Willig, TN ;
Dianzani, I ;
Ball, S ;
Tchernia, G ;
Klar, J ;
Matsson, H ;
Tentler, D ;
Mohandas, N ;
Carlsson, B ;
Dahl, N .
NATURE GENETICS, 1999, 21 (02) :169-175