Ribosomal proteins and human diseases: molecular mechanisms and targeted therapy

J Kang, N Brajanovski, KT Chan, J Xuan… - Signal transduction and …, 2021 - nature.com
Ribosome biogenesis and protein synthesis are fundamental rate-limiting steps for cell
growth and proliferation. The ribosomal proteins (RPs), comprising the structural parts of the …

[HTML][HTML] From rare disorders of immunity to common determinants of infection: Following the mechanistic thread

JL Casanova, L Abel - Cell, 2022 - cell.com
The immense interindividual clinical variability during any infection is a long-standing
enigma. Inborn errors of IFN-γ and IFN-α/β immunity underlying rare infections with weakly …

Ribosome assembly coming into focus

S Klinge, JL Woolford Jr - Nature reviews Molecular cell biology, 2019 - nature.com
In the past 25 years, genetic and biochemical analyses of ribosome assembly in yeast have
identified most of the factors that participate in this complex pathway and have generated …

The discovery of ribosome heterogeneity and its implications for gene regulation and organismal life

NR Genuth, M Barna - Molecular cell, 2018 - cell.com
The ribosome has recently transitioned from being viewed as a passive, indiscriminate
machine to a more dynamic macromolecular complex with specialized roles in the cell …

Ribosomopathies: There's strength in numbers

EW Mills, R Green - Science, 2017 - science.org
BACKGROUND Ribosomopathies are a heterogeneous group of human disorders that are
in some cases known, and in other cases suspected, to result from ribosome dysfunction …

Ribosome levels selectively regulate translation and lineage commitment in human hematopoiesis

RK Khajuria, M Munschauer, JC Ulirsch, C Fiorini… - Cell, 2018 - cell.com
Blood cell formation is classically thought to occur through a hierarchical differentiation
process, although recent studies have shown that lineage commitment may occur earlier in …

Ribosomal proteins: functions beyond the ribosome

X Zhou, WJ Liao, JM Liao, P Liao… - Journal of molecular cell …, 2015 - academic.oup.com
Although ribosomal proteins are known for playing an essential role in ribosome assembly
and protein translation, their ribosome-independent functions have also been greatly …

Mendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-γ immunity

J Bustamante, S Boisson-Dupuis, L Abel… - Seminars in …, 2014 - Elsevier
Mendelian susceptibility to mycobacterial disease (MSMD) is a rare condition characterized
by predisposition to clinical disease caused by weakly virulent mycobacteria, such as BCG …

Ribosome profiling reveals the what, when, where and how of protein synthesis

GA Brar, JS Weissman - Nature reviews Molecular cell biology, 2015 - nature.com
Ribosome profiling, which involves the deep sequencing of ribosome-protected mRNA
fragments, is a powerful tool for globally monitoring translation in vivo. The method has …

Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants

A Belkadi, A Bolze, Y Itan, A Cobat… - Proceedings of the …, 2015 - National Acad Sciences
We compared whole-exome sequencing (WES) and whole-genome sequencing (WGS) in
six unrelated individuals. In the regions targeted by WES capture (81.5% of the consensus …