Search Results - "Reloj, Allison R."
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Pharmacological correction of long QT-linked mutations in KCNH2 (hERG) increases the trafficking of Kv11.1 channels stored in the transitional endoplasmic reticulum
Published in American Journal of Physiology: Cell Physiology (01-11-2013)“…KCNH2 encodes Kv11.1 and underlies the rapidly activating delayed rectifier K(+) current (IKr) in the heart. Loss-of-function KCNH2 mutations cause the type 2…”
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High-Risk Long QT Syndrome Mutations in the Kv7.1 (KCNQ1) Pore Disrupt the Molecular Basis for Rapid K+ Permeation
Published in Biochemistry (Easton) (13-11-2012)“…Type 1 long QT syndrome (LQT1) is caused by loss-of-function mutations in the KCNQ1 gene, which encodes the K+ channel (Kv7.1) that underlies the slowly…”
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Mechanistic Basis for Type 2 Long QT Syndrome Caused by KCNH2 Mutations that Disrupt Conserved Arginine Residues in the Voltage Sensor
Published in The Journal of membrane biology (01-05-2013)“…KCNH2 encodes the Kv11.1 channel, which conducts the rapidly activating delayed rectifier K + current ( I Kr ) in the heart. KCNH2 mutations cause type 2 long…”
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Abstract 394: Multiple Cellular Mechanisms Underlie the Trafficking-deficient Phenotype for Kv11.1 (hERG) Mutations Linked to Long QT Syndrome
Published in Circulation research (22-07-2016)“…Abstract only Type 2 Long QT syndrome (LQT2) is commonly caused by missense mutations that disrupt the trafficking of Kv11.1 channels. The goal of this study…”
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Cellular Mechanism for the Pharmacological Correction of hERG Mutations Linked to the Long QT Syndrome
Published in Biophysical journal (29-01-2013)Get full text
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A Mutation in the Voltage-Sensor of Kv7.1 Prevents PKA Activation of IKs to Elicit Concealed Type 1 Long QT Syndrome during Stress
Published in Biophysical journal (29-01-2013)Get full text
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Abstract 18298: Trafficking-Deficient hERG K+ Channels Linked to Long QT Syndrome are Regulated by a Quality Control Compartment in the ER
Published in Circulation (New York, N.Y.) (22-11-2011)“…Abstract only The human Ether-a-go-go Related Gene (hERG) encodes the pore-forming voltage-gated K+ channel (Kv) α-subunit that underlies the…”
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Malignant Long QT Syndrome KCNQ1 Mutations in the Pore Disrupt the Molecular Basis for Rapid K+ Permeation
Published in Biophysical journal (29-01-2013)Get full text
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Mechanistic Basis for Type 2 Long QT Syndrome Caused by KCNH2 Mutations that Disrupt Conserved Arginine Residue in the Voltage Sensor
Published in The Journal of membrane biology (02-04-2013)“…KCNH2 encodes the Kv11.1 channel, which conducts the rapidly activating delayed rectifier K + current ( I Kr ) in the heart. KCNH2 mutations cause type 2 long…”
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