Specifically, defects in ribosome biogenesis or function appear to be capable of causing anemia and other hematologic phenotypes, defects in growth and ...

Jan 11, 2010 ... In mammalian cells, this number is even higher; for example, a HeLa cell ... It is therefore somewhat surprising that some defects in ribosome ...

Mar 31, 2014 ... Mutations in some of the proteins that make ribosomes cause disorders characterized by bone marrow failure and anemia early in life, followed ...

Ribosomopathies are diseases caused by abnormalities in the structure or function of ... Prokaryotic and eukaryotic ribosomes both contain a scaffold of ribosomal RNA (rRNA) on w...

Mar 2, 2017 ... A Ribosomopathy Reveals Decoding Defective Ribosomes Driving Human ... In both cases, the mutations caused defects in ribosome function.

Jan 22, 2019 ... Ribosomopathies are genetic defects that affect ribosome biogenesis. ... their well-documented function in protein production, ribosomes may ...

Jul 27, 2019 ... Ribosomopathies can be defined as diseases associated with a ... Research on the effects of ribosomal defects on ribosome function and cell ...

Mar 2, 2017 ... ... ribosome biogenesis and maturation. Classical ribosomopathies have been typically associated with bone marrow failure (BMF). Examples ...

Oct 1, 2017 ... Ribosomopathies are a collection of syndromes with the shared underlying feature of defective ribosomal function or production. The majority of ...

The historic idea that ribosomes function constitutively to translate the genetic code continues to be challenged. Even core ribosome components may exert ...