Search Results - "Rook, Martin"

NaV1.1 and NaV1.6 selective compounds reduce the behavior phenotype and epileptiform activity in a novel zebrafish model for Dravet Syndrome by Weuring, Wout J, Singh, Sakshi, Volkers, Linda, Rook, Martin B, van 't Slot, Ruben H, Bosma, Marjolein, Inserra, Marco, Vetter, Irina, Verhoeven-Duif, Nanda M, Braun, Kees P J, Rivara, Mirko, Koeleman, Bobby P C

“…Dravet syndrome is caused by dominant loss-of-function mutations in SCN1A which cause reduced activity of Nav1.1 leading to lack of neuronal inhibition. On the…”
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Dominant missense mutations in ABCC9 cause Cantú syndrome by Harakalova, Magdalena, van Harssel, Jeske J T, Terhal, Paulien A, van Lieshout, Stef, Duran, Karen, Renkens, Ivo, Amor, David J, Wilson, Louise C, Kirk, Edwin P, Turner, Claire L S, Shears, Debbie, Garcia-Minaur, Sixto, Lees, Melissa M, Ross, Alison, Venselaar, Hanka, Vriend, Gert, Takanari, Hiroki, Rook, Martin B, van der Heyden, Marcel A G, Asselbergs, Folkert W, Breur, Hans M, Swinkels, Marielle E, Scurr, Ingrid J, Smithson, Sarah F, Knoers, Nine V, van der Smagt, Jasper J, Nijman, Isaac J, Kloosterman, Wigard P, van Haelst, Mieke M, van Haaften, Gijs, Cuppen, Edwin

“…Edwin Cuppen, Gijs van Haaften and colleagues report the identification of mutations in ABCC9 in individuals with Cantú syndrome, which is characterized by…”
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Arabidopsis Sterol Endocytosis Involves Actin-Mediated Trafficking via ARA6-Positive Early Endosomes by Grebe, Markus, Xu, Jian, Möbius, Wiebke, Ueda, Takashi, Nakano, Akihiko, Geuze, Hans J., Rook, Martin B., Scheres, Ben

“…Background: In contrast to the intense attention devoted to research on intracellular sterol trafficking in animal cells, knowledge about sterol transport in…”
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Structure–Affinity Relationships (SARs) and Structure–Kinetics Relationships (SKRs) of Kv11.1 Blockers by Yu, Zhiyi, van Veldhoven, Jacobus P. D, Louvel, Julien, ’t Hart, Ingrid M. E, Rook, Martin B, van der Heyden, Marcel A. G, Heitman, Laura H, IJzerman, Adriaan P

“…Kv11.1 (hERG) blockers with comparable potencies but different binding kinetics might display divergent pro-arrhythmic risks. In the present study, we explored…”
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Efficient and specific cardiac IK₁ inhibition by a new pentamidine analogue by Takanari, Hiroki, Nalos, Lukas, Stary-Weinzinger, Anna, de Git, Kathy C G, Varkevisser, Rosanne, Linder, Tobias, Houtman, Marien J C, Peschar, Maaike, de Boer, Teun P, Tidwell, Richard R, Rook, Martin B, Vos, Marc A, van der Heyden, Marcel A G

“…In excitable cells, KIR2.x ion-channel-carried inward rectifier current (IK₁) is thought to set the negative and stable resting membrane potential, and…”
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Fever-induced QTc prolongation and ventricular arrhythmias in individuals with type 2 congenital long QT syndrome by Amin, Ahmad S, Herfst, Lucas J, Delisle, Brian P, Klemens, Christine A, Rook, Martin B, Bezzina, Connie R, Underkofler, Heather A S, Holzem, Katherine M, Ruijter, Jan M, Tan, Hanno L, January, Craig T, Wilde, Arthur A M

“…Type 2 congenital long QT syndrome (LQT-2) is linked to mutations in the human ether a-go-go-related gene (HERG) and is characterized by rate-corrected QT…”
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A Cardiac Sodium Channel Mutation Cosegregates With a Rare Connexin40 Genotype in Familial Atrial Standstill by Groenewegen, W Antoinette, Firouzi, Mehran, Bezzina, Connie R, Vliex, Saskia, van Langen, Irene M, Sandkuijl, Lodewijk, Smits, Jeroen P.P, Hulsbeek, Miriam, Rook, Martin B, Jongsma, Habo J, Wilde, Arthur A.M

“…ABSTRACT—Atrial standstill (AS) is a rare arrhythmia that occasionally appears to be genetically determined. This study investigates the genetic background of…”
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Febrile temperatures unmask biophysical defects in Nav1.1 epilepsy mutations supportive of seizure initiation by Volkers, Linda, Kahlig, Kristopher M, Das, Joost H G, van Kempen, Marjan J A, Lindhout, Dick, Koeleman, Bobby P C, Rook, Martin B

“…Generalized epilepsy with febrile seizures plus (GEFS+) is an early onset febrile epileptic syndrome with therapeutic responsive (a)febrile seizures continuing…”
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A Single Na+ Channel Mutation Causing Both Long-QT and Brugada Syndromes by Bezzina, Connie, Veldkamp, Marieke W, van den Berg, Maarten P, Postma, Alex V, Rook, Martin B, Viersma, Jan-Willem, van Langen, Irene M, Tan-Sindhunata, Ghita, Bink-Boelkens, Margreet Th. E, van der Hout, Annemarie H, Mannens, Marcel M. A. M, Wilde, Arthur A. M

“…Mutations in SCN5A, the gene encoding the cardiac Na channel, have been identified in 2 distinct diseases associated with sudden deathone form of the long-QT…”
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Compound Heterozygosity for Mutations (W156X and R225W) in SCN5A Associated With Severe Cardiac Conduction Disturbances and Degenerative Changes in the Conduction System by Bezzina, Connie R, Rook, Martin B, Groenewegen, W Antoinette, Herfst, Lucas J, van der Wal, Allard C, Lam, Jan, Jongsma, Habo J, Wilde, Arthur A.M, Mannens, Marcel M.A.M

“…ABSTRACT—Cardiac conduction defects associate with mutations in SCN5A, the gene encoding the cardiac Na channel. In the present study, we characterized a…”
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Inhibition of lysosomal degradation rescues pentamidine-mediated decreases of KIR2.1 ion channel expression but not that of Kᵥ11.1 by Nalos, Lukas, de Boer, Teun P, Houtman, Marien J.C, Rook, Martin B, Vos, Marc A, van der Heyden, Marcel A.G

“…The antiprotozoal drug pentamidine inhibits two types of cardiac rectifier potassium currents, which can precipitate life-threatening arrhythmias. Here, we use…”
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Inhibition of lysosomal degradation rescues pentamidine-mediated decreases of K(IR)2.1 ion channel expression but not that of K(v)11.1 by Nalos, Lukas, de Boer, Teun P, Houtman, Marien J C, Rook, Martin B, Vos, Marc A, van der Heyden, Marcel A G

“…The antiprotozoal drug pentamidine inhibits two types of cardiac rectifier potassium currents, which can precipitate life-threatening arrhythmias. Here, we use…”
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Physiologic function of IK1 requires a combination of Kir2 isoforms by Rook, Martin B., PhD

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Gap junctional remodeling in relation to stabilization of atrial fibrillation in the goat by VAN DER VELDEN, Huub M. W, AUSMA, Jannie, ROOK, Martin B, HELLEMONS, Anita J. C. G. M, VAN VEEN, Toon A. A. B, ALLESSIE, Maurits A, JONGSMA, Habo J

“…It has been postulated that high atrial rate induced changes at the level of the gap junctions ('gap junctional remodeling', i.e. changes in distribution,…”
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Exploring Chemical Substructures Essential for hERG K+ Channel Blockade by Synthesis and Biological Evaluation of Dofetilide Analogues by Shagufta, Guo, Dong, Klaasse, Elisabeth, de Vries, Henk, Brussee, Johannes, Nalos, Lukáš, Rook, Martin B., Vos, Marc A., van der Heyden, Marcel A. G., IJzerman, Adriaan P.

“…In this study we followed a new approach to analyze molecular substructures required for hERG channel blockade. We designed and synthesized 40 analogues of…”
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Functional analysis of novel KCNQ2 mutations found in patients with Benign Familial Neonatal Convulsions by Volkers, Linda, Rook, Martin B., Das, Joost H.G., Verbeek, Nienke E., Groenewegen, W. Antoinette, van Kempen, Marjan J.A., Lindhout, Dick, Koeleman, Bobby P.C.

“…Benign Familial Neonatal Convulsions (BFNC) are a rare epilepsy disorder with an autosomal-dominant inheritance. It is linked to mutations in the potassium…”
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Biology of cardiac sodium channel Nav1.5 expression by Rook, Martin B., Evers, Melvin M., Vos, Marc A., Bierhuizen, Marti F.A.

“…Nav1.5, the pore forming α-subunit of the voltage-dependent cardiac Na+ channel, is an integral membrane protein involved in the initiation and conduction of…”
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Trafficking and functional expression of cardiac Na + channels by Herfst, Lucas J., Rook, Martin B., Jongsma, Habo J.

“…Voltage-gated Na +channels are essential for the amplitude and upstroke velocity of the cardiac action potential, which are important determinants for impulse…”
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Ragged spiking of free calcium in ADP-stimulated human platelets: regulation of puff-like calcium signals in vitro and ex vivo by Heemskerk, Johan W. M., Rook, Martin B., Sage, Stewart O.

“…Human platelets respond to agonists of G protein (G q )-coupled receptors by generating an irregular pattern of spiking changes in cytosolic Ca 2+ ([Ca 2+ ] i…”
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P19 embryonal carcinoma cells: a suitable model system for cardiac electrophysiological differentiation at the molecular and functional level by VAN DER HEYDEN, Marcel A. G, VAN KEMPEN, Marjan J. A, TSUJI, Yukiomi, ROOK, Martin B, JONGSMA, Habo J, OPTHOF, Tobias

“…Murine P19 embryonal carcinoma (EC) cells can differentiate into spontaneously beating cardiomyocytes in vitro and have revealed important insight into the…”
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