All Outputs (30)

Clinical and molecular characterization of a cardiac ryanodine receptor founder mutation causing catecholaminergic polymorphic ventricular tachycardia (2015)
Journal Article
Wangüemert, F., Bosch Calero, C., Pérez, C., Campuzano, O., Beltran-Alvarez, P., Scornik, F. S., Iglesias, A., Berne, P., Allegue, C., Ruiz Hernandez, P. M., Brugada, J., Pérez, G. J., & Brugada, R. (2015). Clinical and molecular characterization of a cardiac ryanodine receptor founder mutation causing catecholaminergic polymorphic ventricular tachycardia. Heart rhythm : the official journal of the Heart Rhythm Society, 12(7), 1636-1643. https://doi.org/10.1016/j.hrthm.2015.03.033

Background Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a difficult-to-diagnose cause of sudden cardiac death (SCD). We identified a family of 1400 individuals with multiple cases of CPVT, including 36 SCDs during youth. Objectives... Read More about Clinical and molecular characterization of a cardiac ryanodine receptor founder mutation causing catecholaminergic polymorphic ventricular tachycardia.

Interplay between R513 methylation and S516 phosphorylation of the cardiac voltage-gated sodium channel (2014)
Journal Article
Beltran-Alvarez, P., Feixas, F., Osuna, S., Díaz-Hernández, R., Brugada, R., & Pagans, S. (2015). Interplay between R513 methylation and S516 phosphorylation of the cardiac voltage-gated sodium channel. Amino acids, 47(2), 429-434. https://doi.org/10.1007/s00726-014-1890-0

Arginine methylation is a novel post-translational modification within the voltage-gated ion channel superfamily, including the cardiac sodium channel, Naᵥ1.5. We show that Naᵥ1.5 R513 methylation decreases S516 phosphorylation rate by 4 orders of ma... Read More about Interplay between R513 methylation and S516 phosphorylation of the cardiac voltage-gated sodium channel.

Identification of N-terminal protein acetylation and arginine methylation of the voltage-gated sodium channel in end-stage heart failure human heart (2014)
Journal Article
Beltran-Alvarez, P., Tarradas, A., Chiva, C., Pérez-Serra, A., Batlle, M., Pérez-Villa, F., Schulte, U., Sabidó, E., Brugada, R., & Pagans, S. (2014). Identification of N-terminal protein acetylation and arginine methylation of the voltage-gated sodium channel in end-stage heart failure human heart. Journal of Molecular and Cellular Cardiology, 76, 126-129. https://doi.org/10.1016/j.yjmcc.2014.08.014

The α subunit of the cardiac voltage-gated sodium channel, Naᵥ1.5, provides the rapid sodium inward current that initiates cardiomyocyte action potentials. Here, we analyzed for the first time the post-translational modifications of Naᵥ1.5 purified f... Read More about Identification of N-terminal protein acetylation and arginine methylation of the voltage-gated sodium channel in end-stage heart failure human heart.

Protein arginine methyl transferases-3 and -5 increase cell surface expression of cardiac sodium channel (2013)
Journal Article
Beltran-Alvarez, P., Espejo, A., Schmauder, R., Beltran, C., Mrowka, R., Linke, T., Batlle, M., Pérez-Villa, F., Pérez, G. J., Scornik, F. S., Benndorf, K., Pagans, S., Zimmer, T., & Brugada, R. (2013). Protein arginine methyl transferases-3 and -5 increase cell surface expression of cardiac sodium channel. FEBS Letters, 587(19), 3159-3165. https://doi.org/10.1016/j.febslet.2013.07.043

The α-subunit of the cardiac voltage-gated sodium channel (Na V1.5) plays a central role in cardiomyocyte excitability. We have recently reported that NaV1.5 is post-translationally modified by arginine methylation. Here, we aimed to identify the enz... Read More about Protein arginine methyl transferases-3 and -5 increase cell surface expression of cardiac sodium channel.

A Missense Mutation in the Sodium Channel β2 Subunit Reveals SCN2B as a New Candidate Gene for Brugada Syndrome (2013)
Journal Article
Riuró, H., Beltran-Alvarez, P., Tarradas, A., Selga, E., Campuzano, O., Vergés, M., Pagans, S., Iglesias, A., Brugada, J., Brugada, P., Vázquez, F. M., Pérez, G. J., Scornik, F. S., & Brugada, R. (2013). A Missense Mutation in the Sodium Channel β2 Subunit Reveals SCN2B as a New Candidate Gene for Brugada Syndrome. Human Mutation, 34(7), 961-966. https://doi.org/10.1002/humu.22328

Brugada Syndrome (BrS) is a familial disease associated with sudden cardiac death. A 20%-25% of BrS patients carry genetic defects that cause loss-of-function of the voltage-gated cardiac sodium channel. Thus, 70%-75% of patients remain without a gen... Read More about A Missense Mutation in the Sodium Channel β2 Subunit Reveals SCN2B as a New Candidate Gene for Brugada Syndrome.

A Novel Missense Mutation, I890T, in the Pore Region of Cardiac Sodium Channel Causes Brugada Syndrome (2013)
Journal Article
Tarradas, A., Selga, E., Beltran-Alvarez, P., Pérez-Serra, A., Riuró, H., Picó, F., Iglesias, A., Campuzano, O., Castro-Urda, V., Fernández-Lozano, I., Pérez, G. J., Scornik, F. S., & Brugada, R. (2013). A Novel Missense Mutation, I890T, in the Pore Region of Cardiac Sodium Channel Causes Brugada Syndrome. PLoS ONE, 8(1), Article e53220. https://doi.org/10.1371/journal.pone.0053220

Brugada syndrome (BrS) is a life-threatening, inherited arrhythmogenic syndrome associated with autosomal dominant mutations in SCN5A, the gene encoding the cardiac Na+ channel alpha subunit (Nav1.5). The aim of this work was to characterize the func... Read More about A Novel Missense Mutation, I890T, in the Pore Region of Cardiac Sodium Channel Causes Brugada Syndrome.

The cardiac sodium channel is post-translationally modified by arginine methylation (2011)
Journal Article
Beltran-Alvarez, P., Pagans, S., & Brugada, R. (2011). The cardiac sodium channel is post-translationally modified by arginine methylation. Journal of Proteome Research, 10(8), 3712-3719. https://doi.org/10.1021/pr200339n

The α subunit of the cardiac sodium channel (Na v1.5) is an essential protein in the initial depolarization phase of the cardiomyocyte action potential. Post-translational modifications such as phosphorylation are known to regulate Na v1.5 function.... Read More about The cardiac sodium channel is post-translationally modified by arginine methylation.

Genetics and cardiac channelopathies (2010)
Journal Article
Campuzano, O., Beltrán-Álvarez, P., Iglesias, A., Scornik, F., Pérez, G., & Brugada, R. (2010). Genetics and cardiac channelopathies. Genetics in Medicine, 12(5), 260-267. https://doi.org/10.1097/GIM.0b013e3181d81636

Sudden cardiac death is a major contributor to mortality in industrialized nations; in fact, it is the cause of more deaths than acquired immune deficiency syndrome, lung and breast cancer, and stroke together. Frequently, the autopsy becomes the pri... Read More about Genetics and cardiac channelopathies.

A systematic screen for proteing-lipid interactions in Saccharomyces cerevisiae (2010)
Journal Article
Gallego, O., Betts, M. J., Gvozdenovic-Jeremic, J., Maeda, K., Matetzki, C., Aguilar-Gurrieri, C., Beltran-Alvarez, P., Bonn, S., Fernández-Tornero, C., Jensen, L. J., Kuhn, M., Trott, J., Rybin, V., Müller, C. W., Bork, P., Kaksonen, M., Russell, R. B., & Gavin, A. C. (2010). A systematic screen for proteing-lipid interactions in Saccharomyces cerevisiae. Molecular Systems Biology, 6(1), Article 430. https://doi.org/10.1038/msb.2010.87

Proteing-metabolite networks are central to biological systems, but are incompletely understood. Here, we report a screen to catalog proteing-lipid interactions in yeast. We used arrays of 56 metabolites to measure lipid-binding fingerprints of 172 p... Read More about A systematic screen for proteing-lipid interactions in Saccharomyces cerevisiae.

Understanding the use of wood-burning stoves in the East Riding - a postnote
Report
Oresanya, T. O., Norfolk, K., Mullen, S., Taylor, J., Durham, G., & Beltran-Alvarez, P. Understanding the use of wood-burning stoves in the East Riding - a postnote. East Riding of Yorkshire Council

Opening paragraph:
Wood-burning is particularly common in the East Riding of Yorkshire. Wood-burning stoves are used by a higher percentage of households in the East Riding, compared to average use in England as a whole.
Wood burning can lead to po... Read More about Understanding the use of wood-burning stoves in the East Riding - a postnote.