Characterization of the mechanism by which a nonsense variant in RYR2 leads to disordered calcium handling

Autor: Claire Hopton, Anke J. Tijsen, Leonid Maizels, Gil Arbel, Amira Gepstein, Nicola Bates, Benjamin Brown, Irit Huber, Susan J. Kimber, William G. Newman, Luigi Venetucci, Lior Gepstein

Publikováno v: Physiological Reports, Vol 10, Iss 8, Pp n/a-n/a (2022)

Abstract Heterozygous missense variants of the cardiac ryanodine receptor gene (RYR2) cause catecholaminergic polymorphic ventricular tachycardia (CPVT). These missense variants of RYR2 result in a gain of function of the ryanodine receptors, charact

Externí odkaz: https://doaj.org/article/0a54c9a572d34f8e990a65b6a055122d

Assessment of disease-associated missense variants in RYR2 on transcript splicing

Autor: Damilola Olubando, Huw Thomas, Minoru Horie, Raymond T. O’Keefe, Luigi Venetucci, William Newman

Publikováno v: Cardiogenetics, Vol 10, Iss 1 (2020)

Heterozygous RYR2 missense variants cause catecholaminergic polymorphic ventricular tachycardia. Rarely, loss of function variants can result in ventricular arrhythmias. We used splice prediction tools and an ex vivo splicing assay to investigate whe

Externí odkaz: https://doaj.org/article/3123d2ecb4fc4e37ad753bcf24e96c21

Disulfide-activated protein kinase G Iα regulates cardiac diastolic relaxation and fine-tunes the Frank–Starling response

Autor: Jenna Scotcher, Oleksandra Prysyazhna, Andrii Boguslavskyi, Kornel Kistamas, Natasha Hadgraft, Eva D. Martin, Jenny Worthington, Olena Rudyk, Pedro Rodriguez Cutillas, Friederike Cuello, Michael J. Shattock, Michael S. Marber, Maria R. Conte, Adam Greenstein, David J. Greensmith, Luigi Venetucci, John F. Timms, Philip Eaton

Publikováno v: Nature Communications, Vol 7, Iss 1, Pp 1-11 (2016)

The stroke volume of the heart increases in response to an increase in the blood volume filling the heart. Here the authors reveal that this coordinated process is mediated in part by oxidative activation of the protein kinase G Iα, which phosphoryl

Externí odkaz: https://doaj.org/article/03ace94ba067478fa8463d2ab1ace41b

Distinct circadian mechanisms govern cardiac rhythms and susceptibility to arrhythmia

Autor: Elena Crooks, Sophie M T Wehrens, Hans P. A. Van Dongen, Luigi Venetucci, Shobhan Gaddameedhi, Timothy M. Brown, John S. O’ Neill, Debra J. Skene, Andrew W. Trafford, Edward A. Hayter, Nichola J Barron, David A. Bechtold, Alessandra Stangherlin

Publikováno v: Nature Communications, Vol 12, Iss 1, Pp 1-13 (2021)
Nature Communications
Hayter, E A, Wehrens, S M T, Van Dongen, H P A, Stangherlin, A, Gaddameedhi, S, Crooks, E, Barron, N J, Venetucci, L A, Neill, J S O, Brown, T M, Skene, D J, Trafford, A W & Bechtold, D A 2021, ' Distinct circadian mechanisms govern cardiac rhythms and susceptibility to arrhythmia ', Nature Communications, vol. 12, no. 1, 2472 . https://doi.org/10.1038/s41467-021-22788-8

Electrical activity in the heart exhibits 24-hour rhythmicity, and potentially fatal arrhythmias are more likely to occur at specific times of day. Here, we demonstrate that circadian clocks within the brain and heart set daily rhythms in sinoatrial

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d9799ab86b9df430aa2acc3f981e5e2a
https://doaj.org/article/530c60e952014c1cb2858a92a8c76775

BS10 A carvedilol analogue, VKII-86, prevents hypokalaemia-induced ventricular arrhythmia through novel multi-channel effects

Autor: Charles Antzelevitch, Sally Freeman, Luigi Venetucci, Izzeddin Alsalahat, Hector Barajas-Martinez, Victoria M. Robinson

Publikováno v: Basic science.

Background and Purpose Hypokalaemia is the most common electrolyte disturbance with a significant mortality due to the occurrence of ventricular arrhythmia. There is currently no available treatment to prevent ventricular arrhythmia in patients susce

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::40769b45e94889dbcc634d73e1575b2e
https://doi.org/10.1136/heartjnl-2021-bcs.208