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 …

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 …

Translational control of stem cell function

JA Saba, K Liakath-Ali, R Green, FM Watt - Nature reviews Molecular …, 2021 - nature.com
Stem cells are characterized by their ability to self-renew and differentiate into many different
cell types. Research has focused primarily on how these processes are regulated at a …

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 …

The genetics of myelodysplastic syndrome: from clonal haematopoiesis to secondary leukaemia

AS Sperling, CJ Gibson, BL Ebert - Nature Reviews Cancer, 2017 - nature.com
Myelodysplastic syndrome (MDS) is a clonal disease that arises from the expansion of
mutated haematopoietic stem cells. In a spectrum of myeloid disorders ranging from clonal …

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 …

[HTML][HTML] Unraveling hematopoiesis through the lens of genomics

LA Liggett, VG Sankaran - Cell, 2020 - cell.com
Hematopoiesis has long served as a paradigm of stem cell biology and tissue homeostasis.
In the past decade, the genomics revolution has ushered in powerful new methods for …

Translation deregulation in human disease

S Tahmasebi, A Khoutorsky, MB Mathews… - … reviews Molecular cell …, 2018 - nature.com
Advances in sequencing and high-throughput techniques have provided an unprecedented
opportunity to interrogate human diseases on a genome-wide scale. The list of disease …

[HTML][HTML] Systematic functional dissection of common genetic variation affecting red blood cell traits

JC Ulirsch, SK Nandakumar, L Wang, FC Giani… - Cell, 2016 - cell.com
Genome-wide association studies (GWAS) have successfully identified thousands of
associations between common genetic variants and human disease phenotypes, but the …

Hallmarks of ribosomopathies

KR Kampen, SO Sulima, S Vereecke… - Nucleic acids …, 2020 - academic.oup.com
Ribosomopathies are diseases caused by defects in ribosomal constituents or in factors with
a role in ribosome assembly. Intriguingly, congenital ribosomopathies display a paradoxical …