Výsledky vyhledávání - "Allison R. Reloj"

Pharmacological correction of long QT-linked mutations inKCNH2(hERG) increases the trafficking of Kv11.1 channels stored in the transitional endoplasmic reticulum

Autor: Allison R. Reloj, Brian P. Delisle, Parvathi S. Nataraj, Corey L. Anderson, Craig T. January, Arthur J. Moss, Jennifer L. Smith, Daniel C. Bartos, Minoru Horie, Seiko Ohno, Elizabeth A. Schroder

Publikováno v: American Journal of Physiology-Cell Physiology. 305:C919-C930

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 long QT syndrome (LQT2), and most LQT2-linked missense mutations inhibit the trafficking of K

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a7c5632901e3b65ba27ee8977b7a0cea
https://doi.org/10.1152/ajpcell.00406.2012

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Abstract 394: Multiple Cellular Mechanisms Underlie the Trafficking-deficient Phenotype for Kv11.1 (hERG) Mutations Linked to Long QT Syndrome

Autor: Allison R. Reloj, Jennifer L. Smith, Craig T January, Corey L. Anderson, Brian T Delisle

Publikováno v: Circulation Research. 119

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 is to determine the cellular mechanisms that underlie the trafficking-deficient phenotype for LQT2-linked

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::a02d8bec4cf40a4c4f12bc73fc88d724
https://doi.org/10.1161/res.119.suppl_1.394

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High-Risk Long QT Syndrome Mutations in the Kv7.1 (KCNQ1) Pore Disrupt the Molecular Basis for Rapid K+ Permeation

Autor: Seiko Ohno, David J. Tester, Pascale Guicheney, Isabelle Denjoy, Minoru Horie, Allison R. Reloj, Véronique Fressart, Don E. Burgess, Arthur J. Moss, Michael J. Ackerman, Daniel C. Bartos, Brian P. Delisle, Jonathan N. Johnson, Kenneth S. Campbell

Publikováno v: Biochemistry. 51:9076-9085

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 activating delayed rectifier K(+) current in the heart. Intragenic risk stratification suggests

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6c2e4a3011578118d30d846a5046d533
https://doi.org/10.1021/bi3009449

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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

Autor: Christie M. McBride, Claude S. Elayi, Ashley M. Smith, Allison R. Reloj, Ellyn J. Velasco, Daniel C. Bartos, Jennifer L. Smith, Don E. Burgess, Brian P. Delisle, Jonathan Powell

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 QT syndrome (LQT2), which increases the risk for life-threatening ventricular arrhythmias. LQT

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8867dc7fb9ca9b1606a673423368c055
https://europepmc.org/articles/PMC3706098/

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Malignant Long QT Syndrome KCNQ1 Mutations in the Pore Disrupt the Molecular Basis for Rapid K+ Permeation

Autor: Véronique Fressart, Arthur J. Moss, Allison R. Reloj, Jonathan N. Johnson, Isabelle Denjoy, Pascale Guicheney, Brian P. Delisle, Seiko Ohno, Minoru Horie, Kenneth S. Campbell, Don E. Burgess, Michael J. Ackerman, Daniel C. Bartos, David J. Tester

Publikováno v: Biophysical Journal. 104(2)

Type 1 long QT syndrome (LQT1) syndrome is caused by loss-of-function mutations in the KCNQ1-encoded K+ channel (Kv7.1) that underlies the slowly activating delayed rectifier K+ current (IKs) in the heart. Intragenic risk stratification suggests LQT1

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a75553c52e9cdc8cd2d60a3d2de952c9

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Cellular Mechanism for the Pharmacological Correction of hERG Mutations Linked to the Long QT Syndrome

Autor: Brian P. Delisle, Parvathi S. Nataraj, Allison R. Reloj, Daniel C. Bartos, Craig T. January, Jennifer L. Smith

Publikováno v: Biophysical Journal. 104(2)

The human Ether-a-go-go Related Gene (hERG) encodes Kv11.1 and underlies the rapidly activating delayed rectifier K+ current in the heart, and loss-of-function hERG mutations cause the type 2 long QT syndrome (LQT2). The majority of LQT2-linked misse

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::10c1cbea411faec68a533e7e8236e37e

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KCNH2 MUTATIONS THAT ALTER KV11.1 CHANNEL GATING ARE LINKED TO SUDDEN INFANT DEATH SYNDROME

Autor: Allison R. Reloj, Brian P. Delisle, Michael J. Ackerman, Chun-Chun Hsu, Jennifer L. Smith, Don E. Burgess, David J. Tester

Publikováno v: Heart Rhythm. 11:2132-2133

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::4af97bb0076bcbed2fc8230d5cd01a84
https://doi.org/10.1016/j.hrthm.2014.09.022

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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

Autor: Michael J. Ackerman, Don E. Burgess, Allison R. Reloj, Daniel C. Bartos, David J. Tester, John R. Giudicessi, Brian P. Delisle

Publikováno v: Biophysical Journal. 104:267a-268a

Long QT syndrome is associated with prolongation of the corrected QT interval (QTc) and increased risk for ventricular arrhythmias. LQT1 is caused by loss-of-function mutations in the KCNQ1-encoded Kv7.1 α-subunit which mediates the slowly activatin

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c21c72232f3286daa20b338ed01b76fa
https://doi.org/10.1016/j.bpj.2012.11.1502

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