Translational medicine: ribosomopathies
A Narla, BL Ebert - Blood, The Journal of the American Society …, 2011 - ashpublications.org
A Narla, BL Ebert
Blood, The Journal of the American Society of Hematology, 2011•ashpublications.orgIn this issue of Blood, Wong and colleagues provide compelling evidence that Shwachman-
Diamond syndrome is a ribosomopathy. 1 Using both lymphoblasts from patient samples
and an elegant model of engineered conditional mutants in Dictyostelium dicoideum, an
amoebozoan, the authors provide compelling evidence that defective maturation of the 60S
ribosomal subunit is fundamental to the pathophysiology of the disorder.
Diamond syndrome is a ribosomopathy. 1 Using both lymphoblasts from patient samples
and an elegant model of engineered conditional mutants in Dictyostelium dicoideum, an
amoebozoan, the authors provide compelling evidence that defective maturation of the 60S
ribosomal subunit is fundamental to the pathophysiology of the disorder.
In this issue of Blood, Wong and colleagues provide compelling evidence that Shwachman-Diamond syndrome is a ribosomopathy. 1 Using both lymphoblasts from patient samples and an elegant model of engineered conditional mutants in Dictyostelium dicoideum, an amoebozoan, the authors provide compelling evidence that defective maturation of the 60S ribosomal subunit is fundamental to the pathophysiology of the disorder.
ashpublications.org