Sickle cell disease (SCD) and β thalassaemia, caused by lesions that affect the HBB (β
globin gene), form the most common human genetic disorders world‐wide, and represent a …

In the present review, we describe the history of the identification of the eukaryotic
translation termination factors eRF1 and eRF3. As in the case of several proteins involved in …

In eukaryotes, accurate protein synthesis relies on a family of translational GTPases that pair
with specific decoding factors to decipher the mRNA code on ribosomes. We present …

Sequences and available structures were compared for all the widely distributed
representatives of the P-loop GTPases and GTPase-related proteins with the aim of …

Individual variation in fetal hemoglobin (HbF, α2γ2) response underlies the remarkable
diversity in phenotypic severity of sickle cell disease and β thalassemia. HbF levels and HbF …

Clonal proliferation in myeloproliferative neoplasms (MPN) is driven by somatic mutations in
JAK2, CALR or MPL, but the contribution of inherited factors is poorly characterized. Using a …

No-go decay (NGD) targets mRNAs with stalls in translation elongation for endonucleolytic
cleavage in a process involving the Dom34 and Hbs1 proteins. The crystal structure of a …

In yeast, aberrant mRNAs lacking in-frame termination codons are recognized and
degraded by the non-stop decay (NSD) pathway. The recognition of non-stop mRNAs …

Fetal hemoglobin (HbF) is regulated as a multigenic trait. By genome-wide association
study, we confirmed that HBS1L-MYB intergenic polymorphisms (HMIP) and BCL11A …

Living cells require the continuous production of proteins by the ribosomes. Any problem
enforcing these protein factories to stall during mRNA translation may then have deleterious …