Loss-of-function GJA12/Connexin47 mutations cause Pelizaeus-Merzbacher-like disease (Q24682835)

Gap junction protein gamma 2

GOA release 2020-03-11

1 reference

gap junction channel activity involved in cell communication by electrical coupling

GOA release 2020-03-11

1 reference

Molecular and Cellular Neuroscience

GOA release 2020-03-11

4

Steven S Scherer

0 references

Charles K. Abrams

series ordinal

3

object named as

Charles K Abrams

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author name string

Jennifer L Orthmann-Murphy

series ordinal

1

0 references

Alan D Enriquez

series ordinal

2

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language of work or name

English

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publication date

April 2007

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published in

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volume

34

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page(s)

629-41

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issue

4

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cites work

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

7 April 2017

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Cell-specific expression of connexins and evidence of restricted gap junctional coupling between glial cells and between neurons

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

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Functional studies of human skin disease- and deafness-associated connexin 30 mutations

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Defective trafficking and cell death is characteristic of skin disease-associated connexin 31 mutations

7 April 2017

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Multimeric connexin interactions prior to the trans-Golgi network

7 April 2017

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

7 April 2017

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The molecular pathogenesis of Pelizaeus-Merzbacher disease

7 April 2017

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CHOP is implicated in programmed cell death in response to impaired function of the endoplasmic reticulum

7 April 2017

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Connexin30 in rodent, cat and human brain: selective expression in gray matter astrocytes, co-localization with connexin43 at gap junctions and late developmental appearance

7 April 2017

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Minimal role for caspase 12 in the unfolded protein response in oligodendrocytes in vivo.

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28 September 2017

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The unfolded protein response: a stress signaling pathway critical for health and disease.

28 September 2017

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Oculodentodigital dysplasia connexin43 mutations result in non-functional connexin hemichannels and gap junctions in C6 glioma cells

28 September 2017

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An aberrant sequence in a connexin46 mutant underlies congenital cataracts.

28 September 2017

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Loss of electrical communication, but not plaque formation, after mutations in the cytoplasmic loop of connexin43.

28 September 2017

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Defective N-acetylaspartate catabolism reduces brain acetate levels and myelin lipid synthesis in Canavan's disease.

28 September 2017

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

28 September 2017

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

28 September 2017

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Connexin32-containing gap junctions in Schwann cells at the internodal zone of partial myelin compaction and in Schmidt-Lanterman incisures

28 September 2017

1 reference

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Functional domain mapping and selective trans-dominant effects exhibited by Cx26 disease-causing mutations

28 September 2017

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Transport and function of cx26 mutants involved in skin and deafness disorders.

28 September 2017

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

28 September 2017

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

28 September 2017

1 reference

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Connexins are critical for normal myelination in the CNS.

28 September 2017

1 reference

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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.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1937038

Loss of function and impaired degradation of a cataract-associated mutant connexin50.

28 September 2017

1 reference

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The unfolded protein response modulates disease severity in Pelizaeus-Merzbacher disease.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1937038

Functional study of GJB2 in hereditary hearing loss

28 September 2017

1 reference

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1937038

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1937038

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

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1937038

Gap junctions and the regulation of cellular functions of stem cells during development and differentiation

28 September 2017

1 reference

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Monogenic traits are not simple: lessons from phenylketonuria

28 September 2017

1 reference

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Genetic diseases and gene knockouts reveal diverse connexin functions.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1937038

Functional gap junctions in the schwann cell myelin sheath

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1937038

Grid-mapped freeze-fracture analysis of gap junctions in gray and white matter of adult rat central nervous system, with evidence for a "panglial syncytium" that is not coupled to neurons

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1937038

Structure of gap junction intercellular channels

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1937038

Connections with connexins: the molecular basis of direct intercellular signaling

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1937038

The gap junction communication channel

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1937038

Multisubunit assembly of an integral plasma membrane channel protein, gap junction connexin43, occurs after exit from the ER.

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1937038

Differential expression of three gap junction proteins in developing and mature brain tissues

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1937038

Biochemical analysis of connexin43 intracellular transport, phosphorylation, and assembly into gap junctional plaques

28 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1937038

Functional analysis of R75Q mutation in the gene coding for Connexin 26 identified in a family with nonsyndromic hearing loss.

28 September 2017

1 reference

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Roles of Met-34, Cys-64, and Arg-75 in the assembly of human connexin 26. Implication for key amino acid residues for channel formation and function.

30 May 2018

1 reference

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Activation of an unfolded protein response during differentiation of antibody-secreting B cells.

30 May 2018

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Phenotypes of patients with "simple" Mendelian disorders are complex traits: thresholds, modifiers, and systems dynamics

30 May 2018

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Specific permeability and selective formation of gap junction channels in connexin-transfected HeLa cells

30 May 2018

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Scrape-loading and dye transfer. A rapid and simple technique to study gap junctional intercellular communication

30 May 2018

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On the organization of astrocytic gap junctions in rat brain as suggested by LM and EM immunohistochemistry of connexin43 expression.

30 May 2018

1 reference

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GJA12 mutations in children with recessive hypomyelinating leukoencephalopathy.

30 May 2018

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Functional characterization of a novel Cx26 (T55N) mutation associated to non-syndromic hearing loss

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1937038

Intracellular distribution, assembly and effect of disease-associated connexin 31 mutants in HeLa cells.

28 November 2018

1 reference

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Connexin interaction patterns in keratinocytes revealed morphologically and by FRET analysis.

28 November 2018

1 reference

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Clinical features of patients with GJB2 (connexin 26) mutations: severity of hearing loss is correlated with genotypes and protein expression patterns.

28 November 2018

1 reference

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Oculodentodigital dysplasia-causing connexin43 mutants are non-functional and exhibit dominant effects on wild-type connexin43.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1937038

Connexin30 mutations responsible for hidrotic ectodermal dysplasia cause abnormal hemichannel activity

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1937038

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

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1937038

Immunohistochemical localization of aspartoacylase in the rat central nervous system

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1937038

Cellular mechanisms of mutant connexins in skin disease and hearing loss.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1937038

The CNS phenotype of X-linked Charcot-Marie-Tooth disease: more than a peripheral problem.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1937038

Mutations in the gene for connexin 26 (GJB2) that cause hearing loss have a dominant negative effect on connexin 30.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1937038

Loss-of-function and residual channel activity of connexin26 mutations associated with non-syndromic deafness.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1937038

Hearing loss: frequency and functional studies of the most common connexin26 alleles.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1937038

Cellular mechanisms of connexin32 mutations associated with CNS manifestations

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1937038

trans-dominant inhibition of connexin-43 by mutant connexin-26: implications for dominant connexin disorders affecting epidermal differentiation.

28 November 2018

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Myelination defects and neuronal hyperexcitability in the neocortex of connexin 32-deficient mice.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1937038

Connexin32-null mice develop demyelinating peripheral neuropathy.

28 November 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1937038

Oligodendrocytes express gap junction proteins connexin32 and connexin45.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1937038

Molecular cloning and functional expression of mouse connexin-30,a gap junction gene highly expressed in adult brain and skin.

28 November 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=1937038

Diverse trafficking abnormalities of connexin32 mutants causing CMTX

28 November 2018

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12 December 2020

The COS-7 cell in vitro paradigm to study myelin proteolipid protein 1 gene mutations

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12 December 2020

Cell junctions and intramembrane particles of astrocytes and oligodendrocytes: a freeze-fracture study

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12 December 2020

Electrical coupling, without dye coupling, between mammalian astrocytes and oligodendrocytes in cell culture

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12 December 2020

Unidirectional coupling of gap junctions between neuroglia

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12 December 2020

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

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12 December 2020

Connexin-43 in rat spinal cord: localization in astrocytes and identification of heterotypic astro-oligodendrocytic gap junctions

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12 December 2020

Altered trafficking of mutant connexin32

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12 December 2020

Degradation of connexin43 gap junctions involves both the proteasome and the lysosome

1 reference

12 December 2020

Properties of connexin26 gap junctional proteins derived from mutations associated with non-syndromal heriditary deafness

1 reference

12 December 2020

Functional Characterization of Connexin43 Mutations Found in Patients With Oculodentodigital Dysplasia

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12 December 2020

Functional Characterization of aGJA1Frameshift Mutation Causing Oculodentodigital Dysplasia and Palmoplantar Keratoderma

1 reference

12 December 2020

Two distinct stress signaling pathways converge upon the CHOP promoter during the mammalian unfolded protein response

1 reference

12 December 2020

Transport and Function of Cx26 Mutants Involved in Skin and Deafness Disorders

1 reference

Crossref

https://api.crossref.org/works/10.1016%2FJ.MCN.2007.01.010

7 January 2021

inferred from DOI database lookup

Identifiers

DOI

10.1016/J.MCN.2007.01.010

1 reference

3758324

3758324

1 reference

1 reference

1 reference