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 …

QKI shuttles internal m7G-modified transcripts into stress granules and modulates mRNA metabolism

Z Zhao, Y Qing, L Dong, L Han, D Wu, Y Li, W Li, J Xue… - Cell, 2023 - cell.com
Summary N 7-methylguanosine (m 7 G) modification, routinely occurring at mRNA 5′ cap
or within tRNAs/rRNAs, also exists internally in messenger RNAs (mRNAs). Although m 7 G …

Maturing differentiated human pluripotent stem cells in vitro: methods and challenges

D Ottaviani, M Ter Huurne, DA Elliott, M Bellin… - …, 2023 - journals.biologists.com
Human pluripotent stem cells (hPSCs), derived from individuals or genetically modified with
disease-related mutations and variants, have revolutionised studies of human disease …

[HTML][HTML] RBPMS is an RNA-binding protein that mediates cardiomyocyte binucleation and cardiovascular development

P Gan, Z Wang, MG Morales, Y Zhang, R Bassel-Duby… - Developmental cell, 2022 - cell.com
Noncompaction cardiomyopathy is a common congenital cardiac disorder associated with
abnormal ventricular cardiomyocyte trabeculation and impaired pump function. The genetic …

mRNA translational specialization by RBPMS presets the competence for cardiac commitment in hESCs

D Bartsch, K Kalamkar, G Ahuja, JW Lackmann… - Science …, 2023 - science.org
The blueprints of developing organs are preset at the early stages of embryogenesis.
Transcriptional and epigenetic mechanisms are proposed to preset developmental …

In heart failure reactivation of RNA-binding proteins is associated with the expression of 1,523 fetal-specific isoforms

M D'Antonio, JP Nguyen, TD Arthur… - PLoS computational …, 2022 - journals.plos.org
Reactivation of fetal-specific genes and isoforms occurs during heart failure. However, the
underlying molecular mechanisms and the extent to which the fetal program switch occurs …

The Quaking RNA‐binding proteins as regulators of cell differentiation

DP Neumann, GJ Goodall… - Wiley Interdisciplinary …, 2022 - Wiley Online Library
The RNA‐binding protein Quaking (QKI) has emerged as a potent regulator of cellular
differentiation in developmental and pathological processes. The QKI gene is itself …

The RNA-binding protein QKI governs a muscle-specific alternative splicing program that shapes the contractile function of cardiomyocytes

P Montañés-Agudo, S Aufiero… - Cardiovascular …, 2023 - academic.oup.com
Aims In the heart, splicing factors orchestrate the functional properties of cardiomyocytes by
regulating the alternative splicing of multiple genes. Work in embryonic stem cells has …

RBPMS regulates cardiomyocyte contraction and cardiac function through RNA alternative splicing

P Gan, Z Wang, S Bezprozvannaya… - Cardiovascular …, 2024 - academic.oup.com
Aims RNA binding proteins play essential roles in mediating RNA splicing and are key post-
transcriptional regulators in the heart. Our recent study demonstrated that RBPMS (RNA …

RBPMS2 is a myocardial-enriched splicing regulator required for cardiac function

AA Akerberg, M Trembley, V Butty… - Circulation …, 2022 - Am Heart Assoc
Background: RBPs (RNA-binding proteins) perform indispensable functions in the post-
transcriptional regulation of gene expression. Numerous RBPs have been implicated in …