(Q41902042)

13 October 2017

Myotonia-related mutations in the distal C-terminus of ClC-1 and ClC-0 chloride channels affect the structure of a poly-proline helix (English)

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13 October 2017

1

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13 October 2017

8

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13 October 2017

Oscar Teijido

2

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13 October 2017

Giovanni Zifarelli

3

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13 October 2017

Pau Martin

4

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13 October 2017

Ximena Ramirez-Espain

5

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13 October 2017

Antonio Zorzano

6

1 reference

13 October 2017

Manuel Palacín

7

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13 October 2017

Raúl Estévez

9

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13 October 2017

language of work or name

English

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publication date

1 April 2007

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13 October 2017

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13 October 2017

403

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13 October 2017

1

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13 October 2017

79-87

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describes a project that uses

13 October 2017

ImageJ

1 reference

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC1828897/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

cites work

The program XEASY for computer-supported NMR spectral analysis of biological macromolecules

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1828897

Crystal structure of the cytoplasmic domain of the chloride channel ClC-0.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1828897

Removal of gating in voltage-dependent ClC-2 chloride channel by point mutations affecting the pore and C-terminus CBS-2 domain

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1828897

CBS domains: structure, function, and pathology in human proteins

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1828897

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1828897

Physiological functions of CLC Cl- channels gleaned from human genetic disease and mouse models

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1828897

The role of the carboxyl terminus in ClC chloride channel function

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1828897

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1828897

CLC chloride channels: correlating structure with function

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1828897

Myotonia caused by mutations in the muscle chloride channel gene CLCN1.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1828897

WW and SH3 domains, two different scaffolds to recognize proline-rich ligands

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1828897

Founder mutations and the high prevalence of myotonia congenita in northern Finland

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1828897

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1828897

Helical structure and packing orientation of the S2 segment in the Shaker K+ channel

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1828897

Determinants of slow gating in ClC-0, the voltage-gated chloride channel of Torpedo marmorata.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1828897

Relevance of the D13 region to the function of the skeletal muscle chloride channel, ClC-1.

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1828897

Temperature dependence of fast and slow gating relaxations of ClC-0 chloride channels

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1828897

Nonequilibrium gating and voltage dependence of the ClC-0 Cl- channel

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1828897

Molecular basis for decreased muscle chloride conductance in the myotonic goat

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1828897

Mutations in dominant human myotonia congenita drastically alter the voltage dependence of the CIC-1 chloride channel

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1828897

MOLMOL: a program for display and analysis of macromolecular structures

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1828897

Spectrum of mutations in the major human skeletal muscle chloride channel gene (CLCN1) leading to myotonia

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1828897

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

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1828897

Nonsense and missense mutations of the muscle chloride channel gene in patients with myotonia congenita

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1828897

Myotonias due to CLC-1 chloride channel mutations

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1828897

The skeletal muscle chloride channel in dominant and recessive human myotonia

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1828897

Structural basis for APPTPPPLPP peptide recognition by the FBP11WW1 domain

5 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1828897

Crystal structure of a tandem cystathionine-beta-synthase (CBS) domain protein (TM0935) from Thermotoga maritima at 1.87 A resolution

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1828897

Characterization of three myotonia-associated mutations of the CLCN1 chloride channel gene via heterologous expression

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1828897

Functional and structural conservation of CBS domains from CLC chloride channels.

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1828897

Formation of CLC-0 chloride channels from separated transmembrane and cytoplasmic domains.

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1828897

Left-handed polyproline II helices commonly occur in globular proteins.

18 August 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1828897

A "dystrophic" variant of autosomal recessive myotonia congenita caused by novel mutations in the CLCN1 gene

18 August 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/17107341

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1042/BJ20061230

1 reference

13 October 2017

1 reference

13 October 2017

PubMed publication ID

17107341

1 reference