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 …

Genomic frontiers in congenital heart disease

SU Morton, D Quiat, JG Seidman… - Nature Reviews …, 2022 - nature.com
The application of next-generation sequencing to study congenital heart disease (CHD) is
increasingly providing new insights into the causes and mechanisms of this prevalent birth …

Emerging mechanisms of cell competition

NE Baker - Nature Reviews Genetics, 2020 - nature.com
The growth and survival of cells within tissues can be affected by 'cell competition'between
different cell clones. This phenomenon was initially recognized between wild-type cells and …

Nucleolar maturation of the human small subunit processome

S Singh, A Vanden Broeck, L Miller, M Chaker-Margot… - Science, 2021 - science.org
INTRODUCTION The ribosome catalyzes protein synthesis in all cells by coupling the
decoding of messenger RNA by the small ribosomal subunit with peptide bond formation by …

[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 …

Schizophrenia risk conferred by rare protein-truncating variants is conserved across diverse human populations

D Liu, D Meyer, B Fennessy, C Feng, E Cheng… - Nature …, 2023 - nature.com
Schizophrenia (SCZ) is a chronic mental illness and among the most debilitating conditions
encountered in medical practice. A recent landmark SCZ study of the protein-coding regions …

Principles of human pre-60S biogenesis

A Vanden Broeck, S Klinge - Science, 2023 - science.org
During the early stages of human large ribosomal subunit (60 S) biogenesis, an ensemble of
assembly factors establishes and fine-tunes the essential RNA functional centers of pre-60 S …

Human hematopoietic stem cell vulnerability to ferroptosis

J Zhao, Y Jia, D Mahmut, AA Deik, S Jeanfavre… - Cell, 2023 - cell.com
Hematopoietic stem cells (HSCs) have a number of unique physiologic adaptations that
enable lifelong maintenance of blood cell production, including a highly regulated rate of …

Genotype and functional correlates of disease phenotype in deficiency of adenosine deaminase 2 (DADA2)

PY Lee, ES Kellner, Y Huang, E Furutani… - Journal of allergy and …, 2020 - Elsevier
Background Deficiency of adenosine deaminase 2 (DADA2) is a syndrome with pleiotropic
manifestations including vasculitis and hematologic compromise. A systematic definition of …

Loss‐of‐Function Variants in HOPS Complex Genes VPS16 and VPS41 Cause Early Onset Dystonia Associated with Lysosomal Abnormalities

D Steel, M Zech, C Zhao, KES Barwick… - Annals of …, 2020 - Wiley Online Library
Objectives The majority of people with suspected genetic dystonia remain undiagnosed after
maximal investigation, implying that a number of causative genes have not yet been …