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 …

Association of oxidative stress on pregnancy

K Toboła-Wróbel, M Pietryga… - Oxidative medicine …, 2020 - Wiley Online Library
The pathophysiological mechanism underlying pregnancy complications such as congenital
malformations, miscarriage, preeclampsia, or fetal growth restriction is not entirely known …

[HTML][HTML] Impaired ribosome biogenesis: mechanisms and relevance to cancer and aging

Z Turi, M Lacey, M Mistrik, P Moudry - Aging (Albany NY), 2019 - ncbi.nlm.nih.gov
The biosynthesis of ribosomes is a complex process that requires the coordinated action of
many factors and a huge energy investment from the cell. Ribosomes are essential for …

[HTML][HTML] Neurocristopathies: New insights 150 years after the neural crest discovery

GA Vega-Lopez, S Cerrizuela, C Tribulo… - Developmental biology, 2018 - Elsevier
The neural crest (NC) is a transient, multipotent and migratory cell population that generates
an astonishingly diverse array of cell types during vertebrate development. These cells …

Tissue-selective effects of nucleolar stress and rDNA damage in developmental disorders

E Calo, B Gu, ME Bowen, F Aryan, A Zalc, J Liang… - Nature, 2018 - nature.com
Many craniofacial disorders are caused by heterozygous mutations in general regulators of
housekeeping cellular functions such as transcription or ribosome biogenesis,. Although it is …

RNA polymerases I and III in development and disease

KEN Watt, J Macintosh, G Bernard… - Seminars in cell & …, 2023 - Elsevier
Ribosomes are macromolecular machines that are globally required for the translation of all
proteins in all cells. Ribosome biogenesis, which is essential for cell growth, proliferation …

Dynamic regulation and requirement for ribosomal RNA transcription during mammalian development

KT Falcon, KEN Watt, S Dash, R Zhao… - Proceedings of the …, 2022 - National Acad Sciences
Ribosomal RNA (rRNA) transcription by RNA polymerase I (Pol I) is a critical rate-limiting
step in ribosome biogenesis, which is essential for cell survival. Despite its global function …

How altered ribosome production can cause or contribute to human disease: the spectrum of ribosomopathies

G Venturi, L Montanaro - Cells, 2020 - mdpi.com
A number of different defects in the process of ribosome production can lead to a diversified
spectrum of disorders that are collectively identified as ribosomopathies. The specific factors …

[HTML][HTML] The roles of RNA polymerase I and III subunits Polr1c and Polr1d in craniofacial development and in zebrafish models of Treacher Collins syndrome

KE Noack Watt, A Achilleos, CL Neben, AE Merrill… - PLoS …, 2016 - journals.plos.org
Ribosome biogenesis is a global process required for growth and proliferation of all cells,
yet perturbation of ribosome biogenesis during human development often leads to tissue …

Spliceosomopathies: diseases and mechanisms

C Griffin, JP Saint‐Jeannet - Developmental Dynamics, 2020 - Wiley Online Library
The spliceosome is a complex of RNA and proteins that function together to identify intron‐
exon junctions in precursor messenger‐RNAs, splice out the introns, and join the flanking …