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A Rare Noncoding Enhancer Variant in SCN5A Contributes to the High Prevalence of Brugada Syndrome in Thailand.
Walsh R, Mauleekoonphairoj J, Mengarelli I, Bosada FM, Verkerk AO, van Duijvenboden K, Poovorawan Y, Wongcharoen W, Sutjaporn B, Wandee P, Chimparlee N, Chokesuwattanaskul R, Vongpaisarnsin K, Dangkao P, Wu CI, Tadros R, Amin AS, Lieve KVV, Postema PG, Kooyman M, Beekman L, Sahasatas D, Amnueypol M, Krittayaphong R, Prechawat S, Anannab A, Makarawate P, Ngarmukos T, Phusanti K, Veerakul G, Kingsbury Z, Newington T, Maheswari U, Ross MT, Grace A, Lambiase PD, Behr ER, Schott JJ, Redon R, Barc J, Christoffels VM, Wilde AAM, Nademanee K, Bezzina CR, Khongphatthanayothin A. Walsh R, et al. Among authors: mengarelli i. Circulation. 2025 Jan 7;151(1):31-44. doi: 10.1161/CIRCULATIONAHA.124.069041. Epub 2024 Oct 11. Circulation. 2025. PMID: 39391988 Free PMC article.
Targeting the Microtubule EB1-CLASP2 Complex Modulates NaV1.5 at Intercalated Discs.
Marchal GA, Jouni M, Chiang DY, Pérez-Hernández M, Podliesna S, Yu N, Casini S, Potet F, Veerman CC, Klerk M, Lodder EM, Mengarelli I, Guan K, Vanoye CG, Rothenberg E, Charpentier F, Redon R, George AL Jr, Verkerk AO, Bezzina CR, MacRae CA, Burridge PW, Delmar M, Galjart N, Portero V, Remme CA. Marchal GA, et al. Among authors: mengarelli i. Circ Res. 2021 Jul 23;129(3):349-365. doi: 10.1161/CIRCRESAHA.120.318643. Epub 2021 Jun 7. Circ Res. 2021. PMID: 34092082 Free PMC article.
Genetic variation in GNB5 causes bradycardia by augmenting the cholinergic response via increased acetylcholine-activated potassium current (IK,ACh).
Veerman CC, Mengarelli I, Koopman CD, Wilders R, van Amersfoorth SC, Bakker D, Wolswinkel R, Hababa M, de Boer TP, Guan K, Milnes J, Lodder EM, Bakkers J, Verkerk AO, Bezzina CR. Veerman CC, et al. Among authors: mengarelli i. Dis Model Mech. 2019 Jul 9;12(7):dmm037994. doi: 10.1242/dmm.037994. Dis Model Mech. 2019. PMID: 31208990 Free PMC article.
Electrophysiological Abnormalities in VLCAD Deficient hiPSC-Cardiomyocytes Do not Improve with Carnitine Supplementation.
Verkerk AO, Knottnerus SJG, Portero V, Bleeker JC, Ferdinandusse S, Guan K, IJlst L, Visser G, Wanders RJA, Wijburg FA, Bezzina CR, Mengarelli I, Houtkooper RH. Verkerk AO, et al. Among authors: mengarelli i. Front Pharmacol. 2021 Jan 12;11:616834. doi: 10.3389/fphar.2020.616834. eCollection 2020. Front Pharmacol. 2021. PMID: 33597881 Free PMC article.
Absence of Functional Nav1.8 Channels in Non-diseased Atrial and Ventricular Cardiomyocytes.
Casini S, Marchal GA, Kawasaki M, Nariswari FA, Portero V, van den Berg NWE, Guan K, Driessen AHG, Veldkamp MW, Mengarelli I, de Groot JR, Verkerk AO, Remme CA. Casini S, et al. Among authors: mengarelli i. Cardiovasc Drugs Ther. 2019 Dec;33(6):649-660. doi: 10.1007/s10557-019-06925-6. Cardiovasc Drugs Ther. 2019. PMID: 31916131 Free PMC article.
Electrophysiological Abnormalities in VLCAD Deficient hiPSC-Cardiomyocytes Can Be Improved by Lowering Accumulation of Fatty Acid Oxidation Intermediates.
Knottnerus SJG, Mengarelli I, Wüst RCI, Baartscheer A, Bleeker JC, Coronel R, Ferdinandusse S, Guan K, IJlst L, Li W, Luo X, Portero VM, Ulbricht Y, Visser G, Wanders RJA, Wijburg FA, Verkerk AO, Houtkooper RH, Bezzina CR. Knottnerus SJG, et al. Among authors: mengarelli i. Int J Mol Sci. 2020 Apr 8;21(7):2589. doi: 10.3390/ijms21072589. Int J Mol Sci. 2020. PMID: 32276429 Free PMC article.
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