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 …

An overview of pre‐ribosomal RNA processing in eukaryotes

AK Henras, C Plisson‐Chastang… - Wiley …, 2015 - Wiley Online Library
Ribosomal RNAs are the most abundant and universal noncoding RNAs in living organisms.
In eukaryotes, three of the four ribosomal RNAs forming the 40S and 60S subunits are borne …

Frequency of pathogenic germline variants in cancer-susceptibility genes in patients with osteosarcoma

L Mirabello, B Zhu, R Koster, E Karlins, M Dean… - JAMA …, 2020 - jamanetwork.com
Importance Osteosarcoma, the most common malignant bone tumor in children and
adolescents, occurs in a high number of cancer predisposition syndromes that are defined …

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 …

The complexity of human ribosome biogenesis revealed by systematic nucleolar screening of Pre-rRNA processing factors

L Tafforeau, C Zorbas, JL Langhendries, ST Mullineux… - Molecular cell, 2013 - cell.com
Mature ribosomal RNAs (rRNAs) are produced from polycistronic precursors following
complex processing. Precursor (pre)-rRNA processing has been extensively characterized …

Heterogeneity and specialized functions of translation machinery: from genes to organisms

NR Genuth, M Barna - Nature Reviews Genetics, 2018 - nature.com
Regulation of mRNA translation offers the opportunity to diversify the expression and
abundance of proteins made from individual gene products in cells, tissues and organisms …

The genome landscape of indigenous African cattle

J Kim, O Hanotte, OA Mwai, T Dessie, S Bashir… - Genome biology, 2017 - Springer
Abstract Background The history of African indigenous cattle and their adaptation to
environmental and human selection pressure is at the root of their remarkable diversity …

Altered translation of GATA1 in Diamond-Blackfan anemia

LS Ludwig, HT Gazda, JC Eng, SW Eichhorn, P Thiru… - Nature medicine, 2014 - nature.com
Ribosomal protein haploinsufficiency occurs in diverse human diseases including Diamond-
Blackfan anemia (DBA),, congenital asplenia and T cell leukemia. Yet, how mutations in …

Nucleolar stress with and without p53

A James, Y Wang, H Raje, R Rosby, P DiMario - Nucleus, 2014 - Taylor & Francis
A veritable explosion of primary research papers within the past 10 years focuses on
nucleolar and ribosomal stress, and for good reason: with ribosome biosynthesis …

[HTML][HTML] Molecular basis of the human ribosomopathy Shwachman-Diamond syndrome

AJ Warren - Advances in biological regulation, 2018 - Elsevier
Mutations that target the ubiquitous process of ribosome assembly paradoxically cause
diverse tissue-specific disorders (ribosomopathies) that are often associated with an …