Pathogenesis of X-linked Charcot-Marie-Tooth disease: differential effects of two mutations in connexin 32 (Q35885518)

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21 December 2019

title

Pathogenesis of X-linked Charcot-Marie-Tooth disease: differential effects of two mutations in connexin 32 (English)

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21 December 2019

1

Charles K Abrams

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21 December 2019

author name string

Mona Freidin

2

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21 December 2019

Feliksas Bukauskas

3

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21 December 2019

Kostantin Dobrenis

4

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21 December 2019

Thaddeus A Bargiello

5

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21 December 2019

Vytas K Verselis

6

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21 December 2019

Michael V L Bennett

7

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21 December 2019

Lei Chen

8

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21 December 2019

Zarife Sahenk

9

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21 December 2019

language of work or name

English

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publication date

1 November 2003

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21 December 2019

published in

Journal of Neuroscience

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21 December 2019

volume

23

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21 December 2019

issue

33

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21 December 2019

page(s)

10548-10558

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Connexin29 expression, immunocytochemistry and freeze-fracture replica immunogold labelling (FRIL) in sciatic nerve

21 December 2019

cites work

1 reference

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Connexin29 is uniquely distributed within myelinating glial cells of the central and peripheral nervous systems.

27 July 2018

1 reference

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The mouse gap junction gene connexin29 is highly expressed in sciatic nerve and regulated during brain development

27 July 2018

1 reference

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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

27 July 2018

1 reference

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The first extracellular loop domain is a major determinant of charge selectivity in connexin46 channels

27 July 2018

1 reference

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

27 July 2018

1 reference

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

27 July 2018

1 reference

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Functional gap junctions in the schwann cell myelin sheath

27 July 2018

1 reference

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

27 July 2018

1 reference

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4513672

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4513672

Linkage localization of X-linked Charcot-Marie-Tooth disease.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4513672

Opposite voltage gating polarities of two closely related connexins.

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4513672

Tight junction contact events and temporary gap junctions in the sciatic nerve fibres of the chicken during Wallerian degeneration and subsequent regeneration

27 July 2018

1 reference

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Kinetic properties of a voltage-dependent junctional conductance

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4513672

A quantitative study of anterior root fibres during early myelination

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4513672

A quantitative study of anterior root fibres during early myelination. II. Longitudinal variation in sheath thickness and axon circumference

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4513672

Development of myelinated nerve fibers in the sixth cranial nerve of the rat: a quantitative electron microscope study

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4513672

Topology of the 32-kd liver gap junction protein determined by site-directed antibody localizations

27 July 2018

1 reference

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4513672

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

27 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4513672

Conductance and permeability of the residual state of connexin43 gap junction channels

27 July 2018

1 reference

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

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4513672

Connexin32-null mice develop demyelinating peripheral neuropathy.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4513672

Putative gap junctional communication between axon and regenerating Schwann cells during mammalian peripheral nerve regeneration.

24 September 2018

1 reference

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Connexin32 mutations associated with X-linked Charcot-Marie-Tooth disease show two distinct behaviors: loss of function and altered gating properties.

24 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4513672

Abnormalities in the axonal cytoskeleton induced by a connexin32 mutation in nerve xenografts.

24 September 2018

1 reference

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Oligodendrocytes express gap junction proteins connexin32 and connexin45.

24 September 2018

1 reference

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Evidence for impaired axonal regeneration in PMP22 duplication: studies in nerve xenografts

24 September 2018

1 reference

12 December 2020

Altered connexin expression after peripheral nerve injury

1 reference

12 December 2020

Correlation between connexin 32 gene mutations and clinical phenotype in X-linked dominant Charcot-Marie-Tooth neuropathy

1 reference

12 December 2020

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

1 reference

12 December 2020

Gap junctional conductance is a simple and sensitive function of intracellular pH

1 reference

12 December 2020

Effects of PMP22 duplication and deletions on the axonal cytoskeleton

1 reference

12 December 2020

Demyelinating X-linked Charcot-Marie-Tooth disease: unusual electrophysiological findings

1 reference

12 December 2020

Structural abnormalities and deficient maintenance of peripheral nerve myelin in mice lacking the gap junction protein connexin 32

1 reference

12 December 2020

Pathological findings in the x-linked form of Charcot-Marie-Tooth disease: a morphometric and ultrastructural analysis

1 reference

12 December 2020

10.1523/JNEUROSCI.23-33-10548.2003

Identifiers

DOI

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21 December 2019

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21 December 2019

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