William T. Pu

Dosage-sensitive RBFOX2 autoregulation promotes cardiomyocyte differentiation by maturing the transcriptome

This study shows that RBFOX2 autoregulation is critical for cardiomyocyte differentiation by maturing the transcriptome, and its disruption leads to congenital heart disease.

PCBP1 regulates alternative splicing of AARS2 in congenital cardiomyopathy

This study identifies PCBP1's role in regulating AARS2 alternative splicing and its impact on heart development and congenital cardiomyopathy.

Rapid functional classification of cardiac genetic variants directly informs precision cardiology

This paper introduces REVi-SCOPE, a platform that rapidly characterizes cardiac variants' functional impact, enabling precision cardiology by analyzing VUSs in 10 days.

CaMKII Phosphorylation of RyR2 is Essential for Arrhythmia in CPVT

This study shows that CaMKII phosphorylation of RYR2 at S2814 is essential for arrhythmia in CPVT, acting as an intra-molecular event.

Mechanisms of Cardiomyocyte Aging

This study identifies molecular mechanisms of cardiomyocyte aging using single-nucleus RNA-seq, ATAC-seq, and epigenetic analyses in mice, revealing DNA methylation and ESRRG as key regulators.

A Drug-Elicitable Alternative-Splicing Module (DreAM) for Tunable AAV Expression and Controlled Myocardial Regeneration

Pioneer factor ETV2 safeguards endothelial cell specification by recruiting the repressor REST to restrict alternative lineage commitment

This study identifies ETV2's role in endothelial cell specification by recruiting REST to repress alternative lineage genes through single-cell RNA-seq and ATAC-seq analyses.

Vestigial like 4 regulates the adipogenesis of classical brown adipose tissue

This study identifies VGLL4 as a regulator of classical brown adipose tissue development by modulating the Hippo-YAP pathway and adipogenic gene expression.

CHD4 Interacts With TBX5 to Maintain the Gene Regulatory Network of Postnatal Atrial Cardiomyocytes

The paper shows that TBX5 recruits CHD4 to regulate chromatin organization in atrial cardiomyocytes, affecting gene expression and atrial rhythm.

Cardiac Applications of CRISPR/AAV-Mediated Precise Genome Editing

This study applies CASAAV-HDR to model cardiomyopathies and perform functional genomics in mouse cardiomyocytes, showing its utility for disease modeling and enhancer analysis.

Efficient and reproducible generation of human iPSC-derived cardiomyocytes using a stirred bioreactor

This paper describes a method to generate high-purity, scalable human iPSC-derived cardiomyocytes using a bioreactor, showing improved viability, function, and consistency compared to traditional methods.

In vivo proximity proteomics uncovers palmdelphin (PALMD) as a Z-line-associated mitigator of isoproterenol-induced cardiac injury

This study identifies PALMD as a Z-line-associated protein that mitigates cardiac injury through stabilization of NEXN using in vivo proximity proteomics.

RBPMS2 is a conserved regulator of alternative splicing that promotes myofibrillar organization and optimal calcium handling in cardiomyocytes

This study identifies RBPMS2 as a conserved regulator of alternative splicing that supports myofibril organization and calcium handling in cardiomyocytes across species.

CHD4 is recruited by GATA4 and NKX2-5 silencers to repress non-cardiac gene programs in the developing heart

The paper identifies how CHD4/NuRD is recruited to cardiac gene loci via interactions with GATA4, NKX2-5, and TBX5, revealing its role in repressing non-cardiac gene programs during heart development.

Loss of Tsc1 in cerebellar Purkinje cells induces transcriptional and translation changes in FMRP target transcripts

The paper investigates transcriptional and translational changes in Tsc1-deficient cerebellar Purkinje cells, finding reduced FMRP target transcripts with increased degradation and decreased SHANK2 levels in synapses.

Modeling human TBX5 haploinsufficiency predicts regulatory networks for congenital heart disease

The paper models TBX5 haploinsufficiency in iPSC-derived cardiomyocytes to identify gene regulatory network imbalances linked to congenital heart disease.

LARP7 is a BRCA1 ubiquitinase substrate and regulates genome stability and tumorigenesis

This study shows BRCA1/BARD1 ubiquitinates LARP7, leading to its degradation and affecting DNA repair, cell cycle, and tumor resistance.

Sphingosine 1-phosphate-regulated transcriptomes in heterogenous arterial and lymphatic endothelium of the aorta

The paper characterizes S1PR1-regulated transcriptomes in aortic endothelial cells, revealing distinct subtypes and signaling mechanisms in arterial and lymphatic endothelium.

Sarcomeres regulate cardiomyocyte maturation through MRTF-SRF signaling

This study shows that sarcomere assembly via ACTN2 and MRTF-SRF signaling promotes cardiomyocyte maturation through a positive feedback loop.

In vivo CRISPR screening identifies RNF20/40 as epigenetic regulators of cardiomyocyte maturation

Enhancer-dependence of gene expression increases with developmental age

The paper shows that enhancer-dependence of gene expression increases with developmental age in mouse and human cells.

Rational design of a compact CRISPR-Cas9 activator for AAV- mediated delivery

The paper designs a compact CRISPR-Cas9 activator suitable for AAV-mediated delivery and validates its transcriptional activation efficacy in multiple cell lines.