mRNAs, proteins and the emerging principles of gene expression control

C Buccitelli, M Selbach - Nature Reviews Genetics, 2020 - nature.com
Gene expression involves transcription, translation and the turnover of mRNAs and proteins.
The degree to which protein abundances scale with mRNA levels and the implications in …

Molecular mechanisms underlying nucleotide repeat expansion disorders

I Malik, CP Kelley, ET Wang, PK Todd - Nature reviews Molecular cell …, 2021 - nature.com
The human genome contains over one million short tandem repeats. Expansion of a subset
of these repeat tracts underlies over fifty human disorders, including common genetic …

Xist spatially amplifies SHARP/SPEN recruitment to balance chromosome-wide silencing and specificity to the X chromosome

JW Jachowicz, M Strehle, AK Banerjee… - Nature structural & …, 2022 - nature.com
Although thousands of long non-coding RNAs (lncRNAs) are encoded in mammalian
genomes, their mechanisms of action are poorly understood, in part because they are often …

Cryptic exon detection and transcriptomic changes revealed in single-nuclei RNA sequencing of C9ORF72 patients spanning the ALS-FTD spectrum

LM Gittings, EB Alsop, J Antone, M Singer… - Acta …, 2023 - Springer
The C9ORF72-linked diseases amyotrophic lateral sclerosis (ALS) and frontotemporal
dementia (FTD) are characterized by the nuclear depletion and cytoplasmic accumulation of …

[HTML][HTML] Hmgcs2-mediated ketogenesis modulates high-fat diet-induced hepatosteatosis

S Asif, RY Kim, T Fatica, J Sim, X Zhao, Y Oh… - Molecular …, 2022 - Elsevier
Objective Aberrant ketogenesis is correlated with the degree of steatosis in non-alcoholic
fatty liver disease (NAFLD) patients, and an inborn error of ketogenesis (mitochondrial HMG …

Mechanisms of cellular mRNA transcript homeostasis

S Berry, L Pelkmans - Trends in Cell Biology, 2022 - cell.com
For most genes, mRNA transcript abundance scales with cell size to ensure a constant
concentration. Scaling of mRNA synthesis rates with cell size plays an important role, with …

Poison cassette exon splicing of SRSF6 regulates nuclear speckle dispersal and the response to hypoxia

C de Oliveira Freitas Machado… - Nucleic Acids …, 2023 - academic.oup.com
Hypoxia induces massive changes in alternative splicing (AS) to adapt cells to the lack of
oxygen. Here, we identify the splicing factor SRSF6 as a key factor in the AS response to …

Inferring gene regulation from stochastic transcriptional variation across single cells at steady state

A Gupta, JD Martin-Rufino, TR Jones… - Proceedings of the …, 2022 - National Acad Sciences
Regulatory relationships between transcription factors (TFs) and their target genes lie at the
heart of cellular identity and function; however, uncovering these relationships is often labor …

RNase L activation in the cytoplasm induces aberrant processing of mRNAs in the nucleus

JM Burke, N Ripin, MB Ferretti, LA St Clair… - PLoS …, 2022 - journals.plos.org
The antiviral endoribonuclease, RNase L, is activated by the mammalian innate immune
response to destroy host and viral RNA to ultimately reduce viral gene expression. Herein …

Functioning of PPR proteins in organelle RNA metabolism and chloroplast biogenesis

X Wang, Y An, P Xu, J Xiao - Frontiers in plant science, 2021 - frontiersin.org
The pentatricopeptide repeat (PPR) proteins constitute one of the largest nuclear-encoded
protein families in higher plants, with over 400 members in most sequenced plant species …