Disease-causing mutations C277R and C277Y modify gating of human ClC-1 chloride channels in myotonia congenita (Q84236546)

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2 February 2020

title

Disease-causing mutations C277R and C277Y modify gating of human ClC-1 chloride channels in myotonia congenita (English)

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2 February 2020

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3

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Christoph Fahlke

8

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author name string

Sebastian Weinberger

1

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2 February 2020

Daniel Wojciechowski

2

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2 February 2020

Frank Lehmann-Horn

4

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2 February 2020

Karin Jurkat-Rott

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2 February 2020

Toni Becher

6

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Birgit Begemann

7

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Martin Fischer

9

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publication date

28 May 2012

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2 February 2020

published in

Journal of Physiology

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volume

590

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issue

15

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page(s)

3449-3464

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Fast and slow gating relaxations in the muscle chloride channel CLC-1.

2 February 2020

cites work

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12 December 2020

The muscle chloride channel ClC-1 has a double-barreled appearance that is differentially affected in dominant and recessive myotonia

1 reference

12 December 2020

Mechanism of voltage-dependent gating in skeletal muscle chloride channels

1 reference

12 December 2020

Identification of functionally important regions of the muscular chloride channel CIC-1 by analysis of recessive and dominant myotonic mutations

1 reference

12 December 2020

Open-state substructure of single chloride channels from Torpedo electroplax

1 reference

12 December 2020

Barttin activates ClC-K channel function by modulating gating

1 reference

12 December 2020

Inter-subunit communication and fast gate integrity are important for common gating in hClC-1.

1 reference

12 December 2020

Quantitative analysis of the voltage-dependent gating of mouse parotid ClC-2 chloride channel

1 reference

12 December 2020

Mechanism of inverted activation of ClC-1 channels caused by a novel myotonia congenita mutation

1 reference

12 December 2020

Counting channels: a tutorial guide on ion channel fluctuation analysis

1 reference

12 December 2020

Nonstationary noise analysis and application to patch clamp recordings

1 reference

12 December 2020

Independent gating of single pores in CLC-0 chloride channels

1 reference

12 December 2020

Drastic reduction of the slow gate of human muscle chloride channel (ClC-1) by mutation C277S

1 reference

12 December 2020

The voltage-dependent ClC-2 chloride channel has a dual gating mechanism

1 reference

12 December 2020

The role of the carboxyl terminus in ClC chloride channel function

1 reference

12 December 2020

Novel CLCN1 mutations with unique clinical and electrophysiological consequences

1 reference

12 December 2020

ClC-5 mutations associated with Dent's disease: a major role of the dimer interface.

1 reference

12 December 2020

Involvement of helices at the dimer interface in ClC-1 common gating

1 reference

12 December 2020

Cysteine modification of a putative pore residue in ClC-0: implication for the pore stoichiometry of ClC chloride channels

1 reference

12 December 2020

On the repetitive discharge in myotonic muscle fibres

1 reference

12 December 2020

A mutation in autosomal dominant myotonia congenita affects pore properties of the muscle chloride channel

1 reference

12 December 2020

Molecular basis of Thomsen's disease (autosomal dominant myotonia congenita).

1 reference

12 December 2020

Myotonia levior is a chloride channel disorder.

1 reference

12 December 2020

Concentration and pH dependence of skeletal muscle chloride channel ClC-1.

1 reference

12 December 2020

Elimination of the slow gating of ClC-0 chloride channel by a point mutation

1 reference

12 December 2020

X-ray structure of a ClC chloride channel at 3.0 A reveals the molecular basis of anion selectivity

1 reference

12 December 2020

A novel N440K sodium channel mutation causes myotonia with exercise-induced weakness--exclusion of CLCN1 exon deletion/duplication by MLPA.

1 reference

12 December 2020

Dosage effect of a dominant CLCN1 mutation: a novel syndrome

1 reference

12 December 2020

CLC Chloride Channels and Transporters: From Genes to Protein Structure, Pathology and Physiology

1 reference

12 December 2020

Cold extends electromyography distinction between ion channel mutations causing myotonia

1 reference

12 December 2020

Subunit stoichiometry of human muscle chloride channels

1 reference

12 December 2020

Pore-forming segments in voltage-gated chloride channels

1 reference

12 December 2020

The skeletal muscle chloride channel in dominant and recessive human myotonia

1 reference

12 December 2020

Gating the selectivity filter in ClC chloride channels

1 reference

12 December 2020

JPCalc, a software package for calculating liquid junction potential corrections in patch-clamp, intracellular, epithelial and bilayer measurements and for correcting junction potential measurements

1 reference

12 December 2020

An aspartic acid residue important for voltage-dependent gating of human muscle chloride channels

1 reference

12 December 2020

Anion permeation in human ClC-4 channels

1 reference

12 December 2020

Channel-like slippage modes in the human anion/proton exchanger ClC-4.

1 reference

12 December 2020

Mechanism of ion permeation in skeletal muscle chloride channels

1 reference

12 December 2020

Carboxy-terminal truncations modify the outer pore vestibule of muscle chloride channels

1 reference

12 December 2020

Structure of a eukaryotic CLC transporter defines an intermediate state in the transport cycle

1 reference

12 December 2020