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 …

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 …

Integrative annotation of variants from 1092 humans: application to cancer genomics

E Khurana, Y Fu, V Colonna, XJ Mu, HM Kang… - Science, 2013 - science.org
Introduction Plummeting sequencing costs have led to a great increase in the number of
personal genomes. Interpreting the large number of variants in them, particularly in …

The expanding RNA polymerase III transcriptome

G Dieci, G Fiorino, M Castelnuovo, M Teichmann… - TRENDS in …, 2007 - cell.com
The role of RNA polymerase (Pol) III in eukaryotic transcription is commonly thought of as
being restricted to a small set of highly expressed, housekeeping non–protein-coding (nc) …

Nucleolus, ribosomes, and cancer

L Montanaro, D Treré, M Derenzini - The American journal of pathology, 2008 - Elsevier
The complex aspects linking the nucleolus and ribosome biogenesis to cancer are reviewed
here. The available evidence indicates that the morphological and functional changes in the …

Inactivation of the tumor suppressor p53 by long noncoding RNA RMRP

Y Chen, Q Hao, S Wang, M Cao… - Proceedings of the …, 2021 - National Acad Sciences
p53 inactivation is highly associated with tumorigenesis and drug resistance. Here, we
identify a long noncoding RNA, the RNA component of mitochondrial RNA-processing …

RNA polymerase III transcription as a disease factor

M Yeganeh, N Hernandez - Genes & development, 2020 - genesdev.cshlp.org
RNA polymerase (Pol) III is responsible for transcription of different noncoding genes in
eukaryotic cells, whose RNA products have well-defined functions in translation and other …

Of proteins and RNA: the RNase P/MRP family

O Esakova, AS Krasilnikov - Rna, 2010 - rnajournal.cshlp.org
Nuclear ribonuclease (RNase) P is a ubiquitous essential ribonucleoprotein complex, one of
only two known RNA-based enzymes found in all three domains of life. The RNA component …

snoRNPs: functions in ribosome biogenesis

S Ojha, S Malla, SM Lyons - Biomolecules, 2020 - mdpi.com
Ribosomes are perhaps the most critical macromolecular machine as they are tasked with
carrying out protein synthesis in cells. They are incredibly complex structures composed of …

When ribosomes go bad: diseases of ribosome biogenesis

EF Freed, F Bleichert, LM Dutca, SJ Baserga - Molecular BioSystems, 2010 - pubs.rsc.org
Ribosomes are vital for cell growth and survival. Until recently, it was believed that mutations
in ribosomes or ribosome biogenesis factors would be lethal, due to the essential nature of …