Functional alterations in gap junction channels formed by mutant forms of connexin 32: evidence for loss of function as a pathogenic mechanism in the X-linked form of Charcot-Marie-Tooth disease (Q35895439)

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scientific article published in May 2001

Language	Label	Description	Also known as
English	Functional alterations in gap junction channels formed by mutant forms of connexin 32: evidence for loss of function as a pathogenic mechanism in the X-linked form of Charcot-Marie-Tooth disease	scientific article published in May 2001

Statements

scholarly article

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

Functional alterations in gap junction channels formed by mutant forms of connexin 32: evidence for loss of function as a pathogenic mechanism in the X-linked form of Charcot-Marie-Tooth disease (English)

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

author name string

C K Abrams

1

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

M M Freidin

2

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

V K Verselis

3

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

M V Bennett

4

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

T A Bargiello

5

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

language of work or name

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publication date

1 May 2001

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Europe PubMed Central

PMC publication ID

11 August 2017

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

900

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

1

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

9-25

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

Intracellular transport, assembly, and degradation of wild-type and disease-linked mutant gap junction proteins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4517190

11 July 2018

Clustering of connexin 43-enhanced green fluorescent protein gap junction channels and functional coupling in living cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4517190

11 July 2018

Analysis of gap junction assembly using mutated connexins detected in Charcot-Marie-Tooth X-linked disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4517190

11 July 2018

X-linked Charcot-Marie-Tooth disease and connexin32.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4517190

11 July 2018

Molecular determinants of electrical rectification of single channel conductance in gap junctions formed by connexins 26 and 32.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4517190

11 July 2018

Multiple connexin expression in peripheral nerve, Schwann cells, and Schwannoma cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4517190

11 July 2018

The role of a conserved proline residue in mediating conformational changes associated with voltage gating of Cx32 gap junctions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4517190

11 July 2018

Rapid and direct effects of pH on connexins revealed by the connexin46 hemichannel preparation

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4517190

11 July 2018

Mutations in the peripheral myelin genes and associated genes in inherited peripheral neuropathies

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4517190

11 July 2018

X-linked dominant Charcot-Marie-Tooth disease: nerve biopsies allow morphological evaluation and detection of connexin32 mutations (Arg15Trp, Arg22Gln).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4517190

11 July 2018

Changes in permeability caused by connexin 32 mutations underlie X-linked Charcot-Marie-Tooth disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4517190

11 July 2018

Missense mutation (R15W) of the connexin32 gene in a family with X chromosomal Charcot-Marie-Tooth neuropathy with only female family members affected

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4517190

11 July 2018

Connexin 32 of gap junctions contains two cytoplasmic calmodulin-binding domains

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4517190

11 July 2018

Species-specific voltage-gating properties of connexin-45 junctions expressed in Xenopus oocytes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4517190

11 July 2018

Two distinct gating mechanisms in gap junction channels: CO2-sensitive and voltage-sensitive

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4517190

11 July 2018

Connexin 32/38 chimeras suggest a role for the second half of inner loop in gap junction gating by low pH.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4517190

11 July 2018

Chimeric evidence for a role of the connexin cytoplasmic loop in gap junction channel gating

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4517190

11 July 2018

Connexin 32 mutations from X-linked Charcot-Marie-Tooth disease patients: functional defects and dominant negative effects

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4517190

11 July 2018

Mutations of the noncoding region of the connexin32 gene in X-linked dominant Charcot-Marie-Tooth neuropathy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4517190

11 July 2018

Connexin43 is another gap junction protein in the peripheral nervous system.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4517190

11 July 2018

Voltage gating and permeation in a gap junction hemichannel

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4517190

11 July 2018

Connexin mutations in X-linked Charcot-Marie-Tooth disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4517190

11 July 2018

Opposite voltage gating polarities of two closely related connexins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4517190

11 July 2018

Multiple conductance states of newly formed single gap junction channels between insect cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4517190

11 July 2018

Biophysical properties of gap junction channels formed by mouse connexin40 in induced pairs of transfected human HeLa cells

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4517190

11 July 2018

Kinetic properties of a voltage-dependent junctional conductance

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4517190

11 July 2018

A voltage-dependent gap junction in Drosophila melanogaster

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4517190

11 July 2018

Limitations of the dual voltage clamp method in assaying conductance and kinetics of gap junction channels

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4517190

11 July 2018

Molecular analysis of voltage dependence of heterotypic gap junctions formed by connexins 26 and 32

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4517190

11 July 2018

A domain substitution procedure and its use to analyze voltage dependence of homotypic gap junctions formed by connexins 26 and 32

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4517190

11 July 2018

Cytoplasmic bridges and gap junctions in an insect cell line (Aedes albopictus)

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4517190

11 July 2018

Naevoid basal cell carcinoma syndrome and Charcot-Marie-Tooth disease: two autosomal dominant disorders segregating in a family

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4517190

11 July 2018

Chemical gating of gap junction channels

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4517190

24 September 2018

X-linked dominant Charcot-Marie-Tooth neuropathy: clinical, electrophysiological, and morphological phenotype in four families with different connexin32 mutations(1).

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4517190

24 September 2018

Molecular dissection of a basic COOH-terminal domain of Cx32 that inhibits gap junction gating sensitivity.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4517190

24 September 2018

Null mutations of connexin32 in patients with X-linked Charcot-Marie-Tooth disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4517190

24 September 2018

Heterotypic gap junction channels (connexin26 ? connexin32) violate the paradigm of unitary conductance

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4517190

24 September 2018

Cell-to-cell channels with two independently regulated gates in series: Analysis of junctional conductance modulation by membrane potential, calcium, and pH

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4517190

24 September 2018

Studies in transgenic mice indicate a loss of connexin32 function in X-linked Charcot-Marie-Tooth disease

1 reference

https://api.crossref.org/works/10.1016%2FS0006-8993%2800%2903327-8

7 January 2021

Genotype/phenotype correlation in affected individuals of a family with a deletion of the entire coding sequence of the connexin 32 gene

1 reference

https://api.crossref.org/works/10.1016%2FS0006-8993%2800%2903327-8

7 January 2021

Isoform composition of connexin channels determines selectivity among second messengers and uncharged molecules

1 reference

https://api.crossref.org/works/10.1016%2FS0006-8993%2800%2903327-8

7 January 2021

New connexin32 mutations associated with X-linked Charcot-Marie-Tooth disease

1 reference

https://api.crossref.org/works/10.1016%2FS0006-8993%2800%2903327-8

7 January 2021

Altered trafficking of mutant connexin32

1 reference

https://api.crossref.org/works/10.1016%2FS0006-8993%2800%2903327-8

7 January 2021

X-linked neuropathy: gene localization with DNA probes

1 reference

https://api.crossref.org/works/10.1016%2FS0006-8993%2800%2903327-8

7 January 2021

Sex-linked recessive inheritance in Charcot-Marie-tooth disease with partial clinical manifestations in female carriers

1 reference

https://api.crossref.org/works/10.1016%2FS0006-8993%2800%2903327-8

7 January 2021

Unusual electrophysiological findings in X-linked dominant Charcot-Marie-Tooth disease

1 reference

https://api.crossref.org/works/10.1016%2FS0006-8993%2800%2903327-8

7 January 2021

Genotype/Phenotype Correlations in X-Linked Dominant Charcot-Marie-Tooth Disease

1 reference

https://api.crossref.org/works/10.1016%2FS0006-8993%2800%2903327-8

7 January 2021

Point mutations of the connexin32 (GJB1) gene in X-linked dominant Charcot — Marie — Tooth neuropathy

1 reference

https://api.crossref.org/works/10.1016%2FS0006-8993%2800%2903327-8

7 January 2021

Connexin32 gene mutations in X-linked dominant Charcot-Marie-Tooth disease (CMTX1)

1 reference

https://api.crossref.org/works/10.1016%2FS0006-8993%2800%2903327-8

7 January 2021

Strongly decreased gap junctional permeability to inositol 1,4, 5-trisphosphate in connexin32 deficient hepatocytes

1 reference

https://api.crossref.org/works/10.1016%2FS0006-8993%2800%2903327-8

7 January 2021

Connexin32 is a myelin-related protein in the PNS and CNS

1 reference

https://api.crossref.org/works/10.1016%2FS0006-8993%2800%2903327-8

7 January 2021

Mutations in the connexin 32 gene in X-linked dominant Charcot-Marie-Tooth disease (CMTX1)

1 reference

https://pubmed.ncbi.nlm.nih.gov/11325342

12 December 2020

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Identifiers

10.1016/S0006-8993(00)03327-8

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

PMC publication ID

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

PubMed publication ID

1 reference

Europe PubMed Central

PMC publication ID

11 August 2017

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