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2014 ; 124
(18
): 2784-92
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Marrow failure: a window into ribosome biology
#MMPMID25237201
Ruggero D
; Shimamura A
Blood
2014[Oct]; 124
(18
): 2784-92
PMID25237201
show ga
Diamond-Blackfan anemia, Shwachman-Diamond syndrome, and dyskeratosis congenita
are inherited syndromes characterized by marrow failure, congenital anomalies,
and cancer predisposition. Genetic and molecular studies have uncovered distinct
abnormalities in ribosome biogenesis underlying each of these 3 disorders. How
defects in ribosomes, the essential organelles required for protein biosynthesis
in all cells, cause tissue-specific abnormalities in human disease remains a
question of fundamental scientific and medical importance. Here we review the
overlapping and distinct clinical features of these 3 syndromes and discuss
current knowledge regarding the ribosomal pathways disrupted in each of these
disorders. We also explore the increasing complexity of ribosome biology and how
this informs our understanding of developmental biology and human disease.