RNA-binding proteins in neurological development and disease

S Prashad, PP Gopal - RNA biology, 2021 - Taylor & Francis
ABSTRACT RNA-binding proteins are a critical group of multifunctional proteins that
precisely regulate all aspects of gene expression, from alternative splicing to mRNA …

[HTML][HTML] Genetics of congenital heart disease: a narrative review of recent advances and clinical implications

J Yasuhara, V Garg - Translational Pediatrics, 2021 - ncbi.nlm.nih.gov
Congenital heart disease (CHD) is the most common human birth defect and remains a
leading cause of mortality in childhood. Although advances in clinical management have …

Combined small-molecule treatment accelerates maturation of human pluripotent stem cell-derived neurons

E Hergenreder, AP Minotti, Y Zorina, P Oberst… - Nature …, 2024 - nature.com
The maturation of human pluripotent stem cell (hPSC)-derived neurons mimics the
protracted timing of human brain development, extending over months to years for reaching …

Precise temporal regulation of alternative splicing during neural development

SM Weyn-Vanhentenryck, H Feng… - Nature …, 2018 - nature.com
Alternative splicing (AS) is one crucial step of gene expression that must be tightly regulated
during neurodevelopment. However, the precise timing of developmental splicing switches …

An analysis of tissue-specific alternative splicing at the protein level

JM Rodriguez, F Pozo, T Di Domenico… - PLoS Computational …, 2020 - journals.plos.org
The role of alternative splicing is one of the great unanswered questions in cellular biology.
There is strong evidence for alternative splicing at the transcript level, and transcriptomics …

PGC1/PPAR drive cardiomyocyte maturation at single cell level via YAP1 and SF3B2

SA Murphy, M Miyamoto, A Kervadec, S Kannan… - Nature …, 2021 - nature.com
Cardiomyocytes undergo significant structural and functional changes after birth, and these
fundamental processes are essential for the heart to pump blood to the growing body …

Behavioural and functional evidence revealing the role of RBFOX1 variation in multiple psychiatric disorders and traits

A O'Leary, N Fernàndez-Castillo, G Gan, Y Yang… - Molecular …, 2022 - nature.com
Common variation in the gene encoding the neuron-specific RNA splicing factor RNA
Binding Fox-1 Homolog 1 (RBFOX1) has been identified as a risk factor for several …

Complexity and graded regulation of neuronal cell-type–specific alternative splicing revealed by single-cell RNA sequencing

H Feng, DF Moakley, S Chen… - Proceedings of the …, 2021 - National Acad Sciences
The enormous cellular diversity in the mammalian brain, which is highly prototypical and
organized in a hierarchical manner, is dictated by cell-type–specific gene-regulatory …

Modulation of insulin secretion by RBFOX2-mediated alternative splicing

ND Moss, KL Wells, A Theis, YK Kim… - Nature …, 2023 - nature.com
Insulin secretion is a tightly regulated process that is vital for maintaining blood glucose
homeostasis. Although the molecular components of insulin granule trafficking and secretion …

An expansion of the non-coding genome and its regulatory potential underlies vertebrate neuronal diversity

M Closser, Y Guo, P Wang, T Patel, S Jang… - Neuron, 2022 - cell.com
Proper assembly and function of the nervous system requires the generation of a uniquely
diverse population of neurons expressing a cell-type-specific combination of effector genes …