Antonios Pantazis
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View article: The molecular transition that confers voltage dependence to muscle contraction
The molecular transition that confers voltage dependence to muscle contraction Open
What is the molecular origin of voltage dependence in skeletal muscle excitation-contraction? Cholinergic transmission to the muscle fiber triggers action potentials, which are sensed by voltage-gated L-type calcium channels (Ca V 1.1). In…
View article: A rich conformational palette underlies human CaV2.1-channel availability
A rich conformational palette underlies human CaV2.1-channel availability Open
Depolarization-evoked opening of Ca V 2.1 (P/Q-type) Ca 2+ -channels triggers neurotransmitter release, while voltage-dependent inactivation (VDI) limits channel availability to open, contributing to synaptic plasticity. The mechanism of C…
View article: Clinical and electrophysiological characterization of a SCN5A gain-of-function mutation associated with CPVT-like arrhythmia
Clinical and electrophysiological characterization of a SCN5A gain-of-function mutation associated with CPVT-like arrhythmia Open
The present study aimed to characterize the SCN5A variant I1333V, found in five families with a history of suspected catecholaminergic polymorphic ventricular tachycardia (CPVT). SCN5A encodes the pore-forming subunit of the cardiac voltag…
View article: Two-step voltage-sensor activation of the human K<sub>V</sub>7.4 channel and effect of a deafness-associated mutation
Two-step voltage-sensor activation of the human K<sub>V</sub>7.4 channel and effect of a deafness-associated mutation Open
Voltage-gated, potassium-selective K V 7.4 channels are expressed in the inner ear and are crucial for hair-cell function and survival. Loss-of-function variants of KCNQ4 , the gene encoding K V 7.4-channel subunits, cause non-syndromic pr…
View article: Heme Signaling Through the Gating Ring Apparatus of the Human Bk Channel
Heme Signaling Through the Gating Ring Apparatus of the Human Bk Channel Open
View article: A rich conformational palette underlies human Ca<sub>V</sub>2.1-channel availability
A rich conformational palette underlies human Ca<sub>V</sub>2.1-channel availability Open
Depolarization-evoked opening of Ca V 2.1 (P/Q-type) Ca 2+ -channels triggers neurotransmitter release, while voltage-dependent inactivation (VDI) limits channel availability to open, contributing to synaptic plasticity. The mechanism of C…
View article: Voltage-dependent G-protein regulation of Ca <sub>V</sub> 2.2 (N-type) channels
Voltage-dependent G-protein regulation of Ca <sub>V</sub> 2.2 (N-type) channels Open
How G proteins inhibit N-type, voltage-gated, calcium-selective channels (Ca V 2.2) during presynaptic inhibition is a decades-old question. G proteins Gβγ bind to intracellular Ca V 2.2 regions, but the inhibition is voltage dependent. Us…
View article: Electrical and G-protein Regulation of CaV2.2 (N-type) Channels
Electrical and G-protein Regulation of CaV2.2 (N-type) Channels Open
How G-proteins inhibit N-type, voltage-gated, calcium-selective channels (Ca V 2.2) during presynaptic inhibition is a decades-old question. G-proteins Gβγ bind to intracellular Ca V 2.2 regions, but the inhibition is voltage-dependent. Us…
View article: Are patients with hypertrophic cardiomyopathy given appropriate advice on exercise at a central London inherited cardiac conditions outpatient service?
Are patients with hypertrophic cardiomyopathy given appropriate advice on exercise at a central London inherited cardiac conditions outpatient service? Open
ESC 2005 and AHA guidelines 2015 in sports cardiology restricted individuals with hypertrophic cardiomyopathy (HCM) from moderate and high intensity exercise and limited them to low intensity sport.1,2 Perceived increased risk of sudden ca…
View article: Two epilepsy‐associated variants in <i>KCNA2</i> (K<sub>V</sub>1.2) at position H310 oppositely affect channel functional expression
Two epilepsy‐associated variants in <i>KCNA2</i> (K<sub>V</sub>1.2) at position H310 oppositely affect channel functional expression Open
Two KCNA2 variants (p.H310Y and p.H310R) were discovered in paediatric patients with epilepsy and developmental delay. KCNA2 encodes K V 1.2‐channel subunits, which regulate neuronal excitability. Both gain and loss of K V 1.2 function cau…
View article: An epilepsy-associated K <sub>V</sub> 1.2 charge-transfer-center mutation impairs K <sub>V</sub> 1.2 and K <sub>V</sub> 1.4 trafficking
An epilepsy-associated K <sub>V</sub> 1.2 charge-transfer-center mutation impairs K <sub>V</sub> 1.2 and K <sub>V</sub> 1.4 trafficking Open
Significance A child with epilepsy has a previously unreported, heterozygous mutation in KCNA2 , the gene encoding K V 1.2 proteins. Four K V 1.2 assemble into a potassium-selective channel, a protein complex at the neuronal cell surface r…
View article: Suppression of ventricular arrhythmias by targeting late L-type Ca2+ current
Suppression of ventricular arrhythmias by targeting late L-type Ca2+ current Open
Ventricular arrhythmias, a leading cause of sudden cardiac death, can be triggered by cardiomyocyte early afterdepolarizations (EADs). EADs can result from an abnormal late activation of L-type Ca2+ channels (LTCCs). Current LTCC blockers …
View article: Outcomes and phenotypic expression of rare variants in hypertrophic cardiomyopathy genes in over 200,000 adults
Outcomes and phenotypic expression of rare variants in hypertrophic cardiomyopathy genes in over 200,000 adults Open
Background Hypertrophic cardiomyopathy (HCM) is caused by rare variants in sarcomere-encoding genes, but little is known about the clinical significance of these variants in the general population. Purpose To determine the population preva…
View article: An Epilepsy-Associated Mutation at the KV1.2 (KCNA2) Charge Transfer Center Strongly Suppresses Channel Surface Trafficking
An Epilepsy-Associated Mutation at the KV1.2 (KCNA2) Charge Transfer Center Strongly Suppresses Channel Surface Trafficking Open
View article: Evidence for abnormal deformational reserve in hypertrophic obstructive cardiomyopathy on exercise: is this a true fingerprint?
Evidence for abnormal deformational reserve in hypertrophic obstructive cardiomyopathy on exercise: is this a true fingerprint? Open
Hypertrophic obstructive cardiomyopathy (HOCM) is characterized by muscle hypertrophy and fibrosis, interfering with force generation and relaxation. Abnormal ventricular (LV) myocardial deformation have been demonstrated in patients with …
View article: Tracking the motion of the K<sub>V</sub>1.2 voltage sensor reveals the molecular perturbations caused by a <i>de novo</i> mutation in a case of epilepsy
Tracking the motion of the K<sub>V</sub>1.2 voltage sensor reveals the molecular perturbations caused by a <i>de novo</i> mutation in a case of epilepsy Open
Key points K V 1.2 channels, encoded by the KCNA2 gene, regulate neuronal excitability by conducting K + upon depolarization. A new KCNA2 missense variant was discovered in a patient with epilepsy, causing amino acid substitution F302L at …
View article: Potent Suppression of Ventricular Arrhythmias by Selectively Targeting Late L-type Calcium Current
Potent Suppression of Ventricular Arrhythmias by Selectively Targeting Late L-type Calcium Current Open
View article: P319 Evidence for abnormal deformational reserve in hypertrophic cardiomyopathy on exercise: is it a game-changer?
P319 Evidence for abnormal deformational reserve in hypertrophic cardiomyopathy on exercise: is it a game-changer? Open
Funding Acknowledgements None Hypertrophic obstructive cardiomyopathy (HOCM) is characterized by muscle hypertrophy and fibrosis, interfering with force generation and relaxation. Abnormal ventricular (LV) myocardial deformation have been …
View article: Circuit-Specific Early Impairment of Proprioceptive Sensory Neurons in the SOD1 <sup>G93A</sup> Mouse Model for ALS
Circuit-Specific Early Impairment of Proprioceptive Sensory Neurons in the SOD1 <sup>G93A</sup> Mouse Model for ALS Open
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease in which motor neurons degenerate, resulting in muscle atrophy, paralysis, and fatality. Studies using mouse models of ALS indicate a protracted period of disease developme…
View article: Resurgent Na+ Current Offers Noise Modulation in Bursting Neurons
Resurgent Na+ Current Offers Noise Modulation in Bursting Neurons Open
Neurons utilize bursts of action potentials as an efficient and reliable way to encode information. It is likely that the intrinsic membrane properties of neurons involved in burst generation may also participate in preserving its temporal…
View article: Circuit-Specific Early Impairment of Proprioceptive Sensory Neurons in the SOD1<sup>G93A</sup>Mouse Model for ALS
Circuit-Specific Early Impairment of Proprioceptive Sensory Neurons in the SOD1<sup>G93A</sup>Mouse Model for ALS Open
Amyotrophic Lateral Sclerosis (ALS) is a neurodegenerative disease in which motor neurons degenerate resulting in muscle atrophy, paralysis and fatality. Studies using mouse models of ALS indicate a protracted period of disease development…
View article: A De Novo Mutation Associated with Epilepsy Enhances KV1.2 Voltage Dependence, Suppressing Neuronal Excitability
A De Novo Mutation Associated with Epilepsy Enhances KV1.2 Voltage Dependence, Suppressing Neuronal Excitability Open
View article: Cut-Open Oocyte Voltage-Clamp Technique
Cut-Open Oocyte Voltage-Clamp Technique Open
View article: A Mechanism of Real-Time Noise Modulation in Neurons
A Mechanism of Real-Time Noise Modulation in Neurons Open
Uncertainties pose an ongoing challenge for information processing in the nervous system. It is not entirely clear how neurons maintain dynamic stability of information, encoded in the temporal features of spike trains, notwithstanding sto…
View article: Harnessing photoinduced electron transfer to optically determine protein sub-nanoscale atomic distances
Harnessing photoinduced electron transfer to optically determine protein sub-nanoscale atomic distances Open
Proteins possess a complex and dynamic structure, which is influenced by external signals and may change as they perform their biological functions. We present an optical approach, distance-encoding photoinduced electron transfer (DEPET), …
View article: Resolving the BK Channel Voltage Sensor Activation Transition with Relative Atomic Coordinates Under Physiologically-Relevant Conditions
Resolving the BK Channel Voltage Sensor Activation Transition with Relative Atomic Coordinates Under Physiologically-Relevant Conditions Open
View article: L-Type Calcium Channel Gating Modifiers as a New Class of Antiarrhythmic Drugs
L-Type Calcium Channel Gating Modifiers as a New Class of Antiarrhythmic Drugs Open
View article: Speckle tracking imaging in hypertrophic cardiomyopathy
Speckle tracking imaging in hypertrophic cardiomyopathy Open
View article: A New Class of Antiarrhythmics for Late I CA,L
A New Class of Antiarrhythmics for Late I CA,L Open
View article: The Calcium Channel A2D Subunit Increases the Gating Charges of Ca v 1.2 Channels
The Calcium Channel A2D Subunit Increases the Gating Charges of Ca v 1.2 Channels Open