Regulation of pre-mRNA splicing: roles in physiology and disease, and therapeutic prospects

ME Rogalska, C Vivori, J Valcárcel - Nature reviews genetics, 2023 - nature.com
The removal of introns from mRNA precursors and its regulation by alternative splicing are
key for eukaryotic gene expression and cellular function, as evidenced by the numerous …

Alternative splicing and related RNA binding proteins in human health and disease

Y Tao, Q Zhang, H Wang, X Yang, H Mu - Signal transduction and …, 2024 - nature.com
Alternative splicing (AS) serves as a pivotal mechanism in transcriptional regulation,
engendering transcript diversity, and modifications in protein structure and functionality …

Alternative splicing regulatory networks: functions, mechanisms, and evolution

J Ule, BJ Blencowe - Molecular cell, 2019 - cell.com
High-throughput sequencing-based methods and their applications in the study of
transcriptomes have revolutionized our understanding of alternative splicing. Networks of …

[HTML][HTML] High-fiber diet mitigates maternal obesity-induced cognitive and social dysfunction in the offspring via gut-brain axis

X Liu, X Li, B ** and exon-resolution functional genomics with a hybrid Cas9–Cas12a platform
T Gonatopoulos-Pournatzis, M Aregger… - Nature …, 2020 - nature.com
Systematic map** of genetic interactions (GIs) and interrogation of the functions of sizable
genomic segments in mammalian cells represent important goals of biomedical research. To …

[HTML][HTML] Genome-scale exon perturbation screens uncover exons critical for cell fitness

MS **ao, AP Damodaran, B Kumari, E Dickson, K **ng… - Molecular Cell, 2024 - cell.com
CRISPR-Cas technology has transformed functional genomics, yet understanding of how
individual exons differentially shape cellular phenotypes remains limited. Here, we …

Autism-misregulated eIF4G microexons control synaptic translation and higher order cognitive functions

T Gonatopoulos-Pournatzis, R Niibori, EW Salter… - Molecular cell, 2020 - cell.com
Microexons represent the most highly conserved class of alternative splicing, yet their
functions are poorly understood. Here, we focus on closely related neuronal microexons …

RNA splicing analysis using heterogeneous and large RNA-seq datasets

J Vaquero-Garcia, JK Aicher, S Jewell… - Nature …, 2023 - nature.com
The ubiquity of RNA-seq has led to many methods that use RNA-seq data to analyze
variations in RNA splicing. However, available methods are not well suited for handling …