(Q40814070)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26096614%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

title

ClC-1 mutations in myotonia congenita patients: insights into molecular gating mechanisms and genotype-phenotype correlation (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26096614%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

1 reference

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26096614%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

Lorenzo Maggi

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26096614%20AND%20SRC:MED&resulttype=core&format=json

Giuseppe Felice Mangiatordi

17 February 2020

3

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26096614%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

Domenico Alberga

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26096614%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

Gabriele Siciliano

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26096614%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

Gianluca Lattanzi

13

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26096614%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

Orazio Nicolotti

14

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26096614%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

Pia Bernasconi

16

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26096614%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

Jean-François Desaphy

17

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26096614%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

Renato Mantegazza

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26096614%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

author name string

P Imbrici

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26096614%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

M M Dinardo

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26096614%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

C Altamura

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26096614%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

R Brugnoni

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26096614%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

G Lauria Pinter

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26096614%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

R Micheli

11

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26096614%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

G Annicchiarico

12

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26096614%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

L Morandi

15

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26096614%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

D Conte Camerino

19

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26096614%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

language of work or name

English

0 references

publication date

14 July 2015

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26096614%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

published in

Journal of Physiology

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26096614%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

volume

593

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26096614%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

issue

18

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26096614%20AND%20SRC:MED&resulttype=core&format=json

17 February 2020

page(s)

4181-4199

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:26096614%20AND%20SRC:MED&resulttype=core&format=json

Challenging AQP4 druggability for NMO-IgG antibody binding using molecular dynamics and molecular interaction fields

17 February 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594292

CLC channel function and dysfunction in health and disease

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594292

Effect of mexiletine on transitory depression of compound motor action potential in recessive myotonia congenita.

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594292

Clinical experience with long-term acetazolamide treatment in children with nondystrophic myotonias: a three-case report.

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594292

Electrophysiological characteristics of six mutations in hClC-1 of Korean patients with myotonia congenita

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594292

Nondystrophic myotonia: challenges and future directions.

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594292

CLCN1 mutations in Czech patients with myotonia congenita, in silico analysis of novel and known mutations in the human dimeric skeletal muscle chloride channel

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594292

Functional characterization of ClC-1 mutations from patients affected by recessive myotonia congenita presenting with different clinical phenotypes

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594292

Truncating CLCN1 mutations in myotonia congenita: variable patterns of inheritance.

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594292

A large cohort of myotonia congenita probands: novel mutations and a high-frequency mutation region in exons 4 and 5 of the CLCN1 gene

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594292

Prevalence study of genetically defined skeletal muscle channelopathies in England

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594292

Novel mutations in the CLCN1 gene of myotonia congenita: 2 case reports.

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594292

Dominantly inherited myotonia congenita resulting from a mutation that increases open probability of the muscle chloride channel CLC-1

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594292

Intracellular β-nicotinamide adenine dinucleotide inhibits the skeletal muscle ClC-1 chloride channel

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594292

A new explanation for recessive myotonia congenita: exon deletions and duplications in CLCN1

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594292

Myotonia congenita: novel mutations in CLCN1 gene and functional characterizations in Italian patients

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594292

Screening for mutations in Spanish families with myotonia. Functional analysis of novel mutations in CLCN1 gene.

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594292

Novel insights into the pathomechanisms of skeletal muscle channelopathies

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594292

Binding of ATP to the CBS domains in the C-terminal region of CLC-1.

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594292

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

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594292

Skeletal muscle channelopathies: nondystrophic myotonias and periodic paralysis

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594292

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

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594292

The non-dystrophic myotonias: molecular pathogenesis, diagnosis and treatment.

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594292

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594292

F413C and A531V but not R894X myotonia congenita mutations cause defective endoplasmic reticulum export of the muscle-specific chloride channel CLC-1.

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594292

Chloride channel myotonia: exon 8 hot-spot for dominant-negative interactions.

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594292

Inhibition of skeletal muscle ClC-1 chloride channels by low intracellular pH and ATP.

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594292

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594292

The ClC family of chloride channels and transporters

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594292

Acetazolamide acts directly on the human skeletal muscle chloride channel

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594292

Scalable molecular dynamics with NAMD

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594292

Phenotypic variability in myotonia congenita

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594292

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

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594292

Difference in allelic expression of the CLCN1 gene and the possible influence on the myotonia congenita phenotype

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594292

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

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594292

Conservation of chloride channel structure revealed by an inhibitor binding site in ClC-1.

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594292

Gating the selectivity filter in ClC chloride channels

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594292

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

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594292

Mechanisms of block of muscle type CLC chloride channels (Review).

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594292

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

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594292

Development and current status of the CHARMM force field for nucleic acids.

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594292

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

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594292

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

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594292

Mutations in the human skeletal muscle chloride channel gene (CLCN1) associated with dominant and recessive myotonia congenita

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594292

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

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594292

VMD: visual molecular dynamics

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594292

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

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594292

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

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594292

The skeletal muscle chloride channel in dominant and recessive human myotonia

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594292

Effects of acetazolamide on myotonia

14 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594292

Numerical integration of the cartesian equations of motion of a system with constraints: molecular dynamics of n-alkanes

14 September 2018

1 reference

Crossref

https://api.crossref.org/works/10.1113%2FJP270358

A new gating site in human aquaporin-4: Insights from molecular dynamics simulations

21 January 2018

2 references

Crossref

https://api.crossref.org/works/10.1113%2FJP270358

21 January 2018

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4594292

Molecular determinants of common gating of a ClC chloride channel

12 October 2018

1 reference

Crossref

https://api.crossref.org/works/10.1113%2FJP270358

In vitro analysis of splice site mutations in the CLCN1 gene using the minigene assay

21 January 2018

1 reference

12 December 2020

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

1 reference

12 December 2020

Cold extends electromyography distinction between ion channel mutations causing myotonia

1 reference

12 December 2020

ClC-1 and ClC-2 form hetero-dimeric channels with novel protopore functions

1 reference

12 December 2020

Movement of hClC-1 C-termini during common gating and limits on their cytoplasmic location

1 reference

12 December 2020

Identification of three novel mutations in the major human skeletal muscle chloride channel gene (CLCN1), causing myotonia congenita

1 reference

12 December 2020