Enzo Porrello

Alpha kinase 3 signaling at the M-band maintains sarcomere integrity and proteostasis in striated muscle

James W McNamara, Benjamin L Parker, Holly K Voges, Neda R Mehdiabadi, Francesca Bolk, Feroz Ahmad, Jin D Chung, Natalie Charitakis, Jeffrey Molendijk, Antonia TL Zech, Sean Lal, Mirana Ramialison, Kathy Karavendzas, Hayley L Pointer, Petros Syrris, Luis R Lopes, Perry M Elliott, Gordon S Lynch, Richard J Mills, James E Hudson, et al.

Journal article  |  2023  |  Nature Cardiovascular Research

AbstractMuscle contraction is driven by the molecular machinery of the sarcomere. As phosphorylation is a critical regulator of mu..

propeller: testing for differences in cell type proportions in single cell data

Belinda Phipson, Choon Boon Sim, Enzo R Porrello, Alex W Hewitt, Joseph Powell, Alicia Oshlack

Journal article  |  2022  |  BIOINFORMATICS

Single cell RNA-Sequencing (scRNA-seq) has rapidly gained popularity over the last few years for profiling the transcriptomes of t..

Defining the Fetal Gene Program at Single-Cell Resolution in Pediatric Dilated Cardiomyopathy

Neda RR Mehdiabadi, Choon Boon Sim, Belinda Phipson, Ravi KR Kalathur, Yuliangzi Sun, Celine JJ Vivien, Menno ter Huurne, Adam TT Piers, James EE Hudson, Alicia Oshlack, Robert GG Weintraub, Igor EE Konstantinov, Nathan JJ Palpant, David AA Elliott, Enzo RR Porrello

Journal article  |  2022  |  CIRCULATION

From genome editing to blastocyst complementation: A new horizon in heart transplantation

Igor E Konstantinov, Gregory King, Enzo R Porrello

Journal article  |  2022  |  JTCVS TECHNIQUES

CD90 Marks a Mesenchymal Program in Human Thymic Epithelial Cells In Vitro and In Vivo

Shicheng Sun, Jacky Y Li, Hieu T Nim, Adam Piers, Mirana Ramialison, Enzo R Porrello, Igor E Konstantinov, Andrew G Elefanty, Edouard G Stanley

Journal article  |  2022  |  FRONTIERS IN IMMUNOLOGY

Thymic epithelium is critical for the structural integrity of the thymus and for T cell development. Within the fully formed thymu..

Towards a BETter understanding of cardiac fibrosis

Elizabeth S Stout, David A Elliott, Enzo R Porrello

Journal article  |  2022  |  The Journal of Cardiovascular Aging

Fibroblast activation is a hallmark feature of pathological remodeling of the heart and represents an attractive target for therap..

Development of a Vascularised Cardiac Organoid Platform Reveals a Regulatory Role for Extracellular Matrix Environment on Muscle Functionality

H Voges, B Parker, G Quaife-Ryan, C Friedmand, N Palpant, G Del Monte-Nieto, D Elliott, R Mills, E Porrello, J Hudson

Journal article  |  2022  |  Heart, Lung and Circulation

3D-cardiomics: A spatial transcriptional atlas of the mammalian heart

Monika Mohenska, Nathalia M Tan, Alex Tokolyi, Milena B Furtado, Mauro W Costa, Andrew J Perry, Jessica Hatwell-Humble, Karel van Duijvenboden, Hieu T Nim, Yuan MM Ji, Natalie Charitakis, Denis Bienroth, Francesca Bolk, Celine Vivien, Anja S Knaupp, David R Powell, David A Elliott, Enzo R Porrello, Susan K Nilsson, Gonzalo del Monte-Nieto, et al.

Journal article  |  2021  |  JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

Understanding the spatial gene expression and regulation in the heart is key to uncovering its developmental and physiological pro..

Therapeutic Inhibition of Acid-Sensing Ion Channel 1a Recovers Heart Function After Ischemia-Reperfusion Injury

Meredith A Redd, Sarah E Scheuer, Natalie J Saez, Yusuke Yoshikawa, Han Sheng Chiu, Ling Gao, Mark Hicks, Jeanette E Villanueva, Yashutosh Joshi, Chun Yuen Chow, Gabriel Cuellar-Partida, Jason N Peart, Louise E See Hoe, Xiaoli Chen, Yuliangzi Sun, Jacky Y Suen, Robert J Hatch, Ben Rollo, Di Xia, Mubarak AH Alzubaidi, et al.

Journal article  |  2021  |  CIRCULATION

BACKGROUND: Ischemia-reperfusion injury (IRI) is one of the major risk factors implicated in morbidity and mortality associated wi..

Alpha-protein kinase 3 (ALPK3) truncating variants are a cause of autosomal dominant hypertrophic cardiomyopathy

Luis R Lopes, Soledad Garcia-Hernandez, Massimiliano Lorenzini, Marta Futema, Olga Chumakova, Dmitry Zateyshchikov, Maria Isidoro-Garcia, Eduardo Villacorta, Luis Escobar-Lopez, Pablo Garcia-Pavia, Raquel Bilbao, David Dobarro, Maria Sandin-Fuentes, Claudio Catalli, Blanca Gener Querol, Ainhoa Mezcua, Jose Garcia Pinilla, Torsten Bloch Rasmussen, Ana Ferreira-Aguar, Pablo Revilla-Marti, et al.

Journal article  |  2021  |  EUROPEAN HEART JOURNAL

AIMS: The aim of this study was to determine the frequency of heterozygous truncating ALPK3 variants (ALPK3tv) in patients with hy..