(Q33959224)

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Pathologic and phenotypic alterations in a mouse expressing a connexin47 missense mutation that causes Pelizaeus-Merzbacher-like disease in humans

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scholarly article

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Europe PubMed Central

PubMed publication ID

30 July 2017

Pathologic and phenotypic alterations in a mouse expressing a connexin47 missense mutation that causes Pelizaeus-Merzbacher-like disease in humans (English)

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

Helmut Kettenmann

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Helmut Kettenmann

8

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ORCID Public Data File 2021

author name string

Oliver Tress

1

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

Marta Maglione

2

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

Armin Zlomuzica

3

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

Dennis May

4

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

Nikolai Dicke

5

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

Joachim Degen

6

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

Ekrem Dere

7

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

Dieter Hartmann

9

1 reference

Europe PubMed Central

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30 July 2017

Klaus Willecke

10

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Europe PubMed Central

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30 July 2017

language of work or name

1 reference

based on heuristic

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publication date

7 July 2011

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

7

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

7

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

e1002146

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

copyright license

Creative Commons Attribution 4.0 International

7 July 2011

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April 2022 Public Data File from Crossref

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0 references

Functional heterotypic interactions between astrocyte and oligodendrocyte connexins

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131295

5 July 2018

The human deafness-associated connexin 30 T5M mutation causes mild hearing loss and reduces biochemical coupling among cochlear non-sensory cells in knock-in mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131295

5 July 2018

Elevated CSF N-acetylaspartylglutamate suggests specific molecular diagnostic abnormalities in patients with white matter diseases.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131295

5 July 2018

Dynamic expression of Cx47 in mouse brain development and in the cuprizone model of myelin plasticity

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131295

5 July 2018

GJC2 missense mutations cause human lymphedema

1 reference

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5 July 2018

Pelizaeus-Merzbacher-like disease is caused not only by a loss of connexin47 function but also by a hemichannel dysfunction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131295

5 July 2018

ZONAB promotes proliferation and represses differentiation of proximal tubule epithelial cells

1 reference

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5 July 2018

Pharmacological and genetic approaches to study connexin-mediated channels in glial cells of the central nervous system

1 reference

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5 July 2018

Molecular disruptions of the panglial syncytium block potassium siphoning and axonal saltatory conduction: pertinence to neuromyelitis optica and other demyelinating diseases of the central nervous system

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131295

5 July 2018

Two novel gap junction protein alpha 12 gene mutations in two Chinese patients with Pelizaeus-Merzbacher-like disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131295

5 July 2018

Connexin32 mutations cause loss of function in Schwann cells and oligodendrocytes leading to PNS and CNS myelination defects

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131295

5 July 2018

Hereditary spastic paraplegia is a novel phenotype for GJA12/GJC2 mutations

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131295

5 July 2018

Nur7 is a nonsense mutation in the mouse aspartoacylase gene that causes spongy degeneration of the CNS

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131295

5 July 2018

Ablation of Cx47 in transgenic mice leads to the loss of MUPP1, ZONAB and multiple connexins at oligodendrocyte-astrocyte gap junctions

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131295

5 July 2018

GJA12 mutations are a rare cause of Pelizaeus-Merzbacher-like disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131295

5 July 2018

The conditional connexin43G138R mouse mutant represents a new model of hereditary oculodentodigital dysplasia in humans.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131295

5 July 2018

Cx29 and Cx32, two connexins expressed by myelinating glia, do not interact and are functionally distinct

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131295

5 July 2018

Loss-of-function GJA12/Connexin47 mutations cause Pelizaeus-Merzbacher-like disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131295

5 July 2018

N-Acetylaspartate in the CNS: from neurodiagnostics to neurobiology

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131295

5 July 2018

A novel deletion in the GJA12 gene causes Pelizaeus-Merzbacher-like disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131295

5 July 2018

Frameshift mutation in GJA12 leading to nystagmus, spastic ataxia and CNS dys-/demyelination

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131295

5 July 2018

Regulation of PCNA and cyclin D1 expression and epithelial morphogenesis by the ZO-1-regulated transcription factor ZONAB/DbpA

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131295

5 July 2018

Connexin-47 and connexin-32 in gap junctions of oligodendrocyte somata, myelin sheaths, paranodal loops and Schmidt-Lanterman incisures: implications for ionic homeostasis and potassium siphoning

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131295

5 July 2018

ERAD: the long road to destruction

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131295

5 July 2018

Unique distributions of the gap junction proteins connexin29, connexin32, and connexin47 in oligodendrocytes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131295

5 July 2018

Mutations in the gene encoding gap junction protein alpha 12 (connexin 46.6) cause Pelizaeus-Merzbacher-like disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131295

5 July 2018

Connexin47, connexin29 and connexin32 co-expression in oligodendrocytes and Cx47 association with zonula occludens-1 (ZO-1) in mouse brain

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131295

5 July 2018

Expression pattern of lacZ reporter gene representing connexin36 in transgenic mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131295

5 July 2018

Motor training compensates for cerebellar dysfunctions caused by oligodendrocyte ablation

1 reference

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5 July 2018

Junctional adhesion molecules (JAMs): more molecules with dual functions?

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131295

5 July 2018

Coupling of astrocyte connexins Cx26, Cx30, Cx43 to oligodendrocyte Cx29, Cx32, Cx47: Implications from normal and connexin32 knockout mice

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131295

5 July 2018

Connexins are critical for normal myelination in the CNS.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131295

5 July 2018

Connexin 47 (Cx47)-deficient mice with enhanced green fluorescent protein reporter gene reveal predominant oligodendrocytic expression of Cx47 and display vacuolized myelin in the CNS.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131295

5 July 2018

The structure and function of myelin: from inert membrane to perfusion pump

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131295

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131295

5 July 2018

Structural and functional diversity of connexin genes in the mouse and human genome

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131295

5 July 2018

Biology of oligodendrocyte and myelin in the mammalian central nervous system

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131295

5 July 2018

Functional expression of the new gap junction gene connexin47 transcribed in mouse brain and spinal cord neurons

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131295

5 July 2018

High-efficiency deleter mice show that FLPe is an alternative to Cre-loxP

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131295

5 July 2018

The tight junction protein ZO-1 and an interacting transcription factor regulate ErbB-2 expression

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131295

5 July 2018

ATP-induced membrane currents in ameboid microglia acutely isolated from mouse brain slices.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131295

5 July 2018

A simple assay to determine the functionality of Cre or FLP recombination targets in genomic manipulation constructs.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131295

5 July 2018

Canavan disease: from spongy degeneration to molecular analysis

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131295

5 July 2018

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131295

5 July 2018

Aspartoacylase deficiency and N-acetylaspartic aciduria in patients with canavan disease

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131295

5 July 2018

A new mouse embryonic stem cell line with good germ line contribution and gene targeting frequency

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131295

5 July 2018

GJA12 mutations in children with recessive hypomyelinating leukoencephalopathy.

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002146

21 January 2018

Clinical neurophysiology in GJA12-related hypomyelination vs Pelizaeus-Merzbacher disease

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002146

21 January 2018

Two distinct heterotypic channels mediate gap junction coupling between astrocyte and oligodendrocyte connexins.

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002146

21 January 2018

A reporter allele for investigating connexin 26 gene expression in the mouse brain

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002146

21 January 2018

Four classes of intercellular channels between glial cells in the CNS.

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002146

21 January 2018

Oligodendrocytes in mouse corpus callosum are coupled via gap junction channels formed by connexin47 and connexin32.

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002146

21 January 2018

Gap junction adhesion is necessary for radial migration in the neocortex

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002146

21 January 2018

The impact of astrocytic gap junctional coupling on potassium buffering in the hippocampus.

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002146

21 January 2018

Nogo-A and myelin-associated glycoprotein differently regulate oligodendrocyte maturation and myelin formation.

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002146

21 January 2018

Functional recovery of callosal axons following demyelination: a critical window

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002146

21 January 2018

Expression pattern and functional characterization of connexin29 in transgenic mice.

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002146

21 January 2018

Developmental regulation of Na+ and K+ conductances in glial cells of mouse hippocampal brain slices.

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002146

21 January 2018

Accelerated hippocampal spreading depression and enhanced locomotory activity in mice with astrocyte-directed inactivation of connexin43.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3131295

29 October 2018

Connexin26 in adult rodent central nervous system: Demonstration at astrocytic gap junctions and colocalization with connexin30 and connexin43

1 reference

https://api.crossref.org/works/10.1371%2FJOURNAL.PGEN.1002146

21 January 2018

Increased level of N-acetylaspartylglutamate (NAAG) in the CSF of a patient with Pelizaeus-Merzbacher-like disease due to mutation in the GJA12 gene

1 reference

https://pubmed.ncbi.nlm.nih.gov/21750683

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Genetic and physiological evidence that oligodendrocyte gap junctions contribute to spatial buffering of potassium released during neuronal activity

1 reference

https://pubmed.ncbi.nlm.nih.gov/21750683

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Glutamate carboxypeptidase II is expressed by astrocytes in the adult rat nervous system

1 reference

https://pubmed.ncbi.nlm.nih.gov/21750683

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

The optimal use of IRES (internal ribosome entry site) in expression vectors

1 reference

https://pubmed.ncbi.nlm.nih.gov/21750683

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

General or cell type-specific deletion and replacement of connexin-coding DNA in the mouse

1 reference

https://pubmed.ncbi.nlm.nih.gov/21750683

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Release of N-acetylaspartylglutamate from slices of rat cerebellum, striatum, and spinal cord, and the effect of climbing fiber deprivation

1 reference

https://pubmed.ncbi.nlm.nih.gov/21750683

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Immunochemical and electrophysiological characterization of murine connexin40 and -43 in mouse tissues and transfected human cells

1 reference

https://pubmed.ncbi.nlm.nih.gov/21750683

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Assembly of CNS myelin in the absence of proteolipid protein

1 reference

https://pubmed.ncbi.nlm.nih.gov/21750683

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1371/JOURNAL.PGEN.1002146

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

PMC publication ID

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

30 July 2017

ResearchGate publication ID

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