Enzo R. Porrello

This study shows that gene therapy with AAV-ALPK3 improves heart function in mouse and human models of cardiomyopathy caused by ALPK3 variants.

The paper identifies a compound that selectively promotes cardiomyocyte proliferation through specific cell cycle mechanisms without affecting other cell types.

This study identifies a homozygous SECISBP2 variant causing lethal perinatal cardiomyopathy through loss of selenoprotein function, including GPX4, and suggests a ferroptosis mechanism.

This study uses proteomics to identify a cryptic JPH2 loss-of-function in a paediatric DCM patient, revealing a novel mechanism of recessive disease.

This paper benchmarks spatial transcriptomics in stem cell-derived organoids using Stereo-seq, optimizing RNA capture and introducing regional analysis methods.

This study identifies prenylation as a regulator of cardiomyocyte proliferation through multiple targets, suggesting its potential for cardiac regeneration.

This study identifies glycophagy dysregulation as a mechanism of diabetic heart disease and shows that Gabarapl1 gene therapy improves cardiac function in diabetic mice and human cardiac organoids.

The paper shows that inhibiting contractile function in cardiomyocytes reactivates the cell cycle, suggesting active contraction maintains differentiation and cell cycle arrest.

This study shows that maturing human cardiac organoids enhances disease modeling and drug discovery by mimicking in vivo development and enabling therapeutic testing for DSP cardiomyopathy.

The paper evaluates the clinical validity of heterozygous ALPK3 loss-of-function variants as a cause of hypertrophic cardiomyopathy, finding strong gene-disease association with reduced penetrance.

This study benchmarks spatial transcriptomics methods by comparing 6 SVG identification tools across 14 datasets, revealing discrepancies in results.

This study shows that modified mRNA encoding Myc and Cyclin T1 can induce cardiomyocyte proliferation and improve cardiac function after myocardial injury in mice.

VR-Omics automates integration of multi-slice spatial transcriptomics data in 2D and 3D, revealing dysregulated metabolic networks in paediatric cardiac rhabdomyomas.

propeller tests for differences in cell type proportions between experimental conditions using scRNA-seq data, showing significant changes in heart development, ageing, and COVID-19 severity.

This paper develops a 3D spatial transcriptomic atlas of the mouse heart and provides a web tool for analysis and visualization.

This study identifies Gabarapl1 as a regulator of glycophagy in diabetic cardiomyopathy, showing its role in preventing glycogen accumulation and diastolic dysfunction.

The paper identifies a conserved enhancer in the FLT1 locus that drives cardiovascular expression and modulates angiogenesis pathways in vitro and in vivo.