The spectrum of pre‐mRNA splicing in autism

E Engal, Z Zhang, O Geminder… - Wiley …, 2024 - Wiley Online Library
Disruptions in spatiotemporal gene expression can result in atypical brain function.
Specifically, autism spectrum disorder (ASD) is characterized by abnormalities in pre‐mRNA …

Bi-allelic loss-of-function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental syndrome

E Engal, KT Oja, R Maroofian, O Geminder… - The American Journal of …, 2023 - cell.com
Over two dozen spliceosome proteins are involved in human diseases, also referred to as
spliceosomopathies. WW domain-binding protein 4 (WBP4) is part of the early spliceosomal …

Structural basis of human U5 snRNP late biogenesis and recycling

D Riabov Bassat, S Visanpattanasin… - Nature structural & …, 2024 - nature.com
Pre-mRNA splicing by the spliceosome requires the biogenesis and recycling of its small
nuclear ribonucleoprotein (snRNP) complexes, which are consumed in each round of …

Structure of the human 20S U5 snRNP

S Schneider, I Brandina, D Peter, S Lagad… - Nature Structural & …, 2024 - nature.com
The 20S U5 small nuclear ribonucleoprotein particle (snRNP) is a 17-subunit RNA–protein
complex and a precursor of the U4/U6. U5 tri-snRNP, the major building block of the …

Analgesic targets identified in mouse sensory neuron somata and terminal pain translatomes

MA Bangash, C Cubuk, F Iseppon, R Haroun, C Garcia… - Cell Reports, 2024 - cell.com
The relationship between transcription and protein expression is complex. We identified
polysome-associated RNA transcripts in the somata and central terminals of mouse sensory …

Extended DNA threading through a dual-engine motor module of the activating signal co-integrator 1 complex

J Jia, T Hilal, KE Bohnsack, A Chernev, N Tsao… - Nature …, 2023 - nature.com
Activating signal co-integrator 1 complex (ASCC) subunit 3 (ASCC3) supports diverse
genome maintenance and gene expression processes, and contains tandem Ski2-like …

SART3 associates with a post-splicing complex

K Klimešová, H Petržílková, C Bařinka… - Journal of Cell …, 2023 - journals.biologists.com
ABSTRACT SART3 is a multifunctional protein that acts in several steps of gene expression,
including assembly and recycling of the spliceosomal U4/U6 small nuclear …

The nuclear GYF protein CD2BP2/U5–52K is required for T cell homeostasis

M Bertazzon, A Hurtado-Pico, C Plaza-Sirvent… - Frontiers in …, 2024 - frontiersin.org
The question whether interference with the ubiquitous splicing machinery can lead to cell-
type specific perturbation of cellular function is addressed here by T cell specific ablation of …

Illuminating the role of chaperones in spliceosome biogenesis and recycling

S Zhang - Nature Structural & Molecular Biology, 2024 - nature.com
Illuminating the role of chaperones in spliceosome biogenesis and recycling | Nature Structural
& Molecular Biology Skip to main content Thank you for visiting nature.com. You are using a …

[HTML][HTML] Large-scale map of RNA binding protein interactomes across the mRNA life-cycle

L Street, K Rothamel, K Brannan, W Jin, B Bokor… - bioRxiv, 2023 - ncbi.nlm.nih.gov
Messenger RNAs (mRNAs) interact with RNA-binding proteins (RBPs) in diverse
ribonucleoprotein complexes (RNPs) during distinct life-cycle stages for their processing …