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Mechanisms of Diseases Associated with Mutation in GJC2/Connexin 47

Biomolecules (Basel, Switzerland), 2023-04, Vol.13 (4), p.712

Abrams, Charles K

2023

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Gap junctions in inherited human disorders of the central nervous system

Biochimica et biophysica acta, 2012-08, Vol.1818 (8), p.2030-2047

2012

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AAV1.NT-3 gene therapy for X-linked Charcot–Marie–Tooth neuropathy type 1

Gene therapy, 2022-04, Vol.29 (3-4), p.127-137

2022

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How do mutations in GJB1 cause X-linked Charcot–Marie–Tooth disease?

Brain research, 2012-12, Vol.1487, p.198-205

2012

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Two Distinct Heterotypic Channels Mediate Gap Junction Coupling between Astrocyte and Oligodendrocyte Connexins

The Journal of neuroscience, 2007-12, Vol.27 (51), p.13949-13957

2007

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Patterns of Spontaneous Local Network Activity in Developing Cerebral Cortex: Relationship to Adult Cognitive Function

PloS one, 2015-06, Vol.10 (6), p.e0131259-e0131259

2015

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

Brain (London, England : 1878), 2009-02, Vol.132 (2), p.426-438

2009

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Diseases of connexins expressed in myelinating glia

Neuroscience letters, 2019-03, Vol.695, p.91-99

Abrams, Charles K.

2019

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Genotype–phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders

Orphanet journal of rare diseases, 2022-07, Vol.17 (1), p.1-286, Article 286

2022

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Functional Requirement for a Highly Conserved Charged Residue at Position 75 in the Gap Junction Protein Connexin 32

The Journal of biological chemistry, 2013-02, Vol.288 (5), p.3609-3619

2013

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Assessment of blood–brain barrier leakage and brain oxygenation in Connexin‐32 knockout mice with systemic neuroinflammation using pulse electron paramagnetic resonance imaging techniques

Magnetic resonance in medicine, 2024-06, Vol.91 (6), p.2519-2531

2024

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

Molecular and cellular neuroscience, 2007-04, Vol.34 (4), p.629-641

2007

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GJB1-associated X-linked Charcot–Marie–Tooth disease, a disorder affecting the central and peripheral nervous systems

Cell and tissue research, 2015-06, Vol.360 (3), p.659-673

2015

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Connexin 32 Increases the Proliferative Response of Schwann Cells to Neuregulin-1 (Nrg1)

Proceedings of the National Academy of Sciences - PNAS, 2009-03, Vol.106 (9), p.3567-3572

2009

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Knock-in mouse models for CMTX1 show a loss of function phenotype in the peripheral nervous system

Experimental neurology, 2023-02, Vol.360, p.114277-114277, Article 114277

2023

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Regulatory role of oligodendrocyte gap junctions in inflammatory demyelination

Glia, 2018-12, Vol.66 (12), p.2589-2603

2018

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Gap Junctions Couple Astrocytes and Oligodendrocytes

Journal of molecular neuroscience, 2008-05, Vol.35 (1), p.101-116

2008

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Activation of the unfolded protein response by Connexin47 mutations associated with Pelizaeus-Merzbacher-like disease

Molecular and cellular neuroscience, 2022-05, Vol.120, p.103716, Article 103716

2022

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Investigating oligodendrocyte connexins: Heteromeric interactions between Cx32 and mutant or wild‐type forms of Cx47 do not contribute to or modulate gap junction function

Glia, 2021-08, Vol.69 (8), p.1882-1896

2021

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Gap Junctions Couple Astrocytes and Oligodendrocytes

Journal of molecular neuroscience, 2008-05, Vol.35 (1), p.101-116

2008

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Pannexin1 is expressed by neurons and glia but does not form functional gap junctions

Glia, 2007-01, Vol.55 (1), p.46-56

2007

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Reversal of the Gating Polarity of Gap Junctions by Negative Charge Substitutions in the N-Terminus of Connexin 32

Biophysical journal, 2000-11, Vol.79 (5), p.2403-2415

2000

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Rapid and Specific Immunomagnetic Isolation of Mouse Primary Oligodendrocytes

Journal of visualized experiments, 2018-05 (135)

2018

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Gene expression profiling studies in regenerating nerves in a mouse model for CMT1X: Uninjured Cx32-knockout peripheral nerves display expression profile of injured wild type nerves

Experimental neurology, 2015-01, Vol.263, p.339-349

2015

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Loss of Coupling Distinguishes GJB1 Mutations Associated with CNS Manifestations of CMT1X from Those Without CNS Manifestations

Scientific reports, 2017-01, Vol.7 (1), p.40166-40166, Article 40166

2017

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Mechanisms of Diseases Associated with Mutation in GJC2/Connexin 47

Gap junctions in inherited human disorders of the central nervous system

AAV1.NT-3 gene therapy for X-linked Charcot–Marie–Tooth neuropathy type 1

How do mutations in GJB1 cause X-linked Charcot–Marie–Tooth disease?

Two Distinct Heterotypic Channels Mediate Gap Junction Coupling between Astrocyte and Oligodendrocyte Connexins

Patterns of Spontaneous Local Network Activity in Developing Cerebral Cortex: Relationship to Adult Cognitive Function

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

Diseases of connexins expressed in myelinating glia

Genotype–phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders

Functional Requirement for a Highly Conserved Charged Residue at Position 75 in the Gap Junction Protein Connexin 32

Assessment of blood–brain barrier leakage and brain oxygenation in Connexin‐32 knockout mice with systemic neuroinflammation using pulse electron paramagnetic resonance imaging techniques

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

GJB1-associated X-linked Charcot–Marie–Tooth disease, a disorder affecting the central and peripheral nervous systems

Connexin 32 Increases the Proliferative Response of Schwann Cells to Neuregulin-1 (Nrg1)

Knock-in mouse models for CMTX1 show a loss of function phenotype in the peripheral nervous system

Regulatory role of oligodendrocyte gap junctions in inflammatory demyelination

Gap Junctions Couple Astrocytes and Oligodendrocytes

Activation of the unfolded protein response by Connexin47 mutations associated with Pelizaeus-Merzbacher-like disease

Investigating oligodendrocyte connexins: Heteromeric interactions between Cx32 and mutant or wild‐type forms of Cx47 do not contribute to or modulate gap junction function

Gap Junctions Couple Astrocytes and Oligodendrocytes

Pannexin1 is expressed by neurons and glia but does not form functional gap junctions

Reversal of the Gating Polarity of Gap Junctions by Negative Charge Substitutions in the N-Terminus of Connexin 32

Rapid and Specific Immunomagnetic Isolation of Mouse Primary Oligodendrocytes

Gene expression profiling studies in regenerating nerves in a mouse model for CMT1X: Uninjured Cx32-knockout peripheral nerves display expression profile of injured wild type nerves

Loss of Coupling Distinguishes GJB1 Mutations Associated with CNS Manifestations of CMT1X from Those Without CNS Manifestations

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