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Genetic disruption of voltage-gated calcium channels in psychiatric and neurological disorders

Progress in neurobiology, 2015-11, Vol.134, p.36-54

2015

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A CaV2.1 N-terminal fragment relieves the dominant-negative inhibition by an Episodic ataxia 2 mutant

Neurobiology of disease, 2016-09, Vol.93, p.243-256

2016

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The N-Terminal Juxtamembranous Domain of KCNQ1 Is Critical for Channel Surface Expression: Implications in the Romano-Ward LQT1 Syndrome

Circulation research, 2006-11, Vol.99 (10), p.1076-1083

2006

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KCNQ1 Channels Voltage Dependence through a Voltage-dependent Binding of the S4-S5 Linker to the Pore Domain

The Journal of biological chemistry, 2011-01, Vol.286 (1), p.707-716

2011

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Impaired KCNQ1–KCNE1 and Phosphatidylinositol-4,5-Bisphosphate Interaction Underlies the Long QT Syndrome

Circulation research, 2005-04, Vol.96 (7), p.730-739

2005

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LQT1-associated Mutations Increase KCNQ1 Proteasomal Degradation Independently of Derlin-1

The Journal of biological chemistry, 2009-02, Vol.284 (8), p.5250-5256

2009

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The importance of cache domains in α 2 δ proteins and the basis for their gabapentinoid selectivity

Channels (Austin, Tex.), 2023-12, Vol.17 (1), p.2167563

2023

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Biallelic CACNA2D1 loss-of-function variants cause early-onset developmental epileptic encephalopathy

Brain (London, England : 1878), 2022-08, Vol.145 (8), p.2721-2729

2022

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The Interplay Between Splicing of Two Exon Combinations Differentially Affects Membrane Targeting and Function of Human Ca V 2.2

Function (Oxford, England), 2024, Vol.5 (1), p.zqad060

2024

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Effect of Annexin A5 on CFTR: regulated traffic or scaffolding?

Molecular membrane biology, 2011-01, Vol.28 (1), p.14-29

2011

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Functional genomics assays to study CFTR traffic and ENaC function

Methods in molecular biology (Clifton, N.J.), 2011, Vol.742, p.249

2011

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ADAM17 Mediates Proteolytic Maturation of Voltage-Gated Calcium Channel Auxiliary α 2 δ Subunits, and Enables Calcium Current Enhancement

Function (Oxford, England), 2022, Vol.3 (3), p.zqac013

2022

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The α 2 δ-like Protein Cachd1 Increases N-type Calcium Currents and Cell Surface Expression and Competes with α 2 δ-1

Cell reports (Cambridge), 2018-11, Vol.25 (6), p.1610

2018

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Disruption of the Key Ca 2+ Binding Site in the Selectivity Filter of Neuronal Voltage-Gated Calcium Channels Inhibits Channel Trafficking

Cell reports (Cambridge), 2019-10, Vol.29 (1), p.22

2019

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NHE-RF1 protein rescues DeltaF508-CFTR function

American journal of physiology. Lung cellular and molecular physiology, 2007-05, Vol.292 (5), p.L1085-L1094

2007

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Genetic disruption of voltage-gated calcium channels in psychiatric and neurological disorders

A CaV2.1 N-terminal fragment relieves the dominant-negative inhibition by an Episodic ataxia 2 mutant

The N-Terminal Juxtamembranous Domain of KCNQ1 Is Critical for Channel Surface Expression: Implications in the Romano-Ward LQT1 Syndrome

KCNQ1 Channels Voltage Dependence through a Voltage-dependent Binding of the S4-S5 Linker to the Pore Domain

Impaired KCNQ1–KCNE1 and Phosphatidylinositol-4,5-Bisphosphate Interaction Underlies the Long QT Syndrome

LQT1-associated Mutations Increase KCNQ1 Proteasomal Degradation Independently of Derlin-1

The importance of cache domains in α 2 δ proteins and the basis for their gabapentinoid selectivity

Biallelic CACNA2D1 loss-of-function variants cause early-onset developmental epileptic encephalopathy

The Interplay Between Splicing of Two Exon Combinations Differentially Affects Membrane Targeting and Function of Human Ca V 2.2

Effect of Annexin A5 on CFTR: regulated traffic or scaffolding?

Functional genomics assays to study CFTR traffic and ENaC function

ADAM17 Mediates Proteolytic Maturation of Voltage-Gated Calcium Channel Auxiliary α 2 δ Subunits, and Enables Calcium Current Enhancement

The α 2 δ-like Protein Cachd1 Increases N-type Calcium Currents and Cell Surface Expression and Competes with α 2 δ-1

Disruption of the Key Ca 2+ Binding Site in the Selectivity Filter of Neuronal Voltage-Gated Calcium Channels Inhibits Channel Trafficking

NHE-RF1 protein rescues DeltaF508-CFTR function

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