The role of gap junctions in Charcot-Marie-Tooth disease. (Q53809193)

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18 January 2020

title

The role of gap junctions in Charcot-Marie-Tooth disease (English)

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18 January 2020

Kleopas A Kleopa

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18 January 2020

language of work or name

English

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publication date

1 December 2011

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18 January 2020

published in

Journal of Neuroscience

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18 January 2020

volume

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18 January 2020

issue

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18 January 2020

page(s)

17753-17760

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Three-dimensional structure of a recombinant gap junction membrane channel

18 January 2020

cites work

1 reference

12 December 2020

Genetic diseases and gene knockouts reveal diverse connexin functions.

1 reference

12 December 2020

The role of the gap junction protein connexin32 in the pathogenesis of X-linked Charcot-Marie-Tooth disease.

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12 December 2020

Altered formation of hemichannels and gap junction channels caused by C-terminal connexin-32 mutations

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12 December 2020

Central nervous system involvement in a novel connexin 32 mutation affecting identical twins

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12 December 2020

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

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12 December 2020

Distal axonopathy in peripheral nerves of PMP22-mutant mice

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Mutations in connexin 32: the molecular and biophysical bases for the X-linked form of Charcot-Marie-Tooth disease

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12 December 2020

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

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12 December 2020

Neurological dysfunction and axonal degeneration in Charcot-Marie-Tooth disease type 1A.

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12 December 2020

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

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12 December 2020

Neurodegeneration prevented by lentiviral vector delivery of GDNF in primate models of Parkinson's disease

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Clinical and pathological observations in men lacking the gap junction protein connexin 32

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12 December 2020

Clinical phenotype in X-linked Charcot-Marie-Tooth disease with an entire deletion of the connexin 32 coding sequence

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12 December 2020

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

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12 December 2020

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

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12 December 2020

Phenotypes of X-linked Charcot-Marie-Tooth disease and altered trafficking of mutant connexin 32 (GJB1).

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12 December 2020

Histopathological features of X-linked Charcot-Marie-Tooth disease in 8 patients from 6 families with different connexin32 mutations

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12 December 2020

Clinical, electrophysiological and molecular genetic characteristics of 93 patients with X-linked Charcot-Marie-Tooth disease

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12 December 2020

Episodes of generalized weakness in two sibs with the C164T mutation of the connexin 32 gene

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12 December 2020

Voltage opens unopposed gap junction hemichannels formed by a connexin 32 mutant associated with X-linked Charcot-Marie-Tooth disease

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12 December 2020

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

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12 December 2020

Cellular mechanisms of connexin32 mutations associated with CNS manifestations

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12 December 2020

Six novel connexin32 (GJB1) mutations in X-linked Charcot-Marie-Tooth disease.

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12 December 2020

Novel mutation in X-linked Charcot-Marie-Tooth disease associated with CNS impairment

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12 December 2020

Transient central nervous system white matter abnormality in X-linked Charcot-Marie-Tooth disease.

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12 December 2020

Diverse trafficking abnormalities of connexin32 mutants causing CMTX

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12 December 2020

Demyelinating and axonal features of Charcot-Marie-Tooth disease with mutations of myelin-related proteins (PMP22, MPZ and Cx32): a clinicopathological study of 205 Japanese patients

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12 December 2020

Transient cerebral white matter lesions in a patient with connexin 32 missense mutation

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12 December 2020

Uptake of locally applied deoxyglucose, glucose and lactate by axons and Schwann cells of rat vagus nerve

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12 December 2020

Phenotypic expression of a Pro 87 to Leu mutation in the connexin 32 gene in a large Swiss family with Charcot-Marie-Tooth neuropathy

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12 December 2020

Preserved myelin integrity and reduced axonopathy in connexin32-deficient mice lacking the recombination activating gene-1.

1 reference

12 December 2020

Transient, recurrent, white matter lesions in X-linked Charcot-Marie-Tooth disease with novel connexin 32 mutation

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12 December 2020

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.

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12 December 2020

Connexins are critical for normal myelination in the CNS.

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12 December 2020

Mouse P0 gene disruption leads to hypomyelination, abnormal expression of recognition molecules, and degeneration of myelin and axons.

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12 December 2020

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

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12 December 2020

A V38A mutation in X-linked Charcot-Marie-Tooth neuropathy with unusual clinical features

1 reference

12 December 2020

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

1 reference

12 December 2020

VEGF delivery with retrogradely transported lentivector prolongs survival in a mouse ALS model

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Transgenic expression of human connexin32 in myelinating Schwann cells prevents demyelination in connexin32-null mice

1 reference

12 December 2020

Severe neuropathy with leaky connexin32 hemichannels

1 reference

12 December 2020

Prenylation-defective human connexin32 mutants are normally localized and function equivalently to wild-type connexin32 in myelinating Schwann cells.

1 reference

12 December 2020

Intracellular calcium changes trigger connexin 32 hemichannel opening

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12 December 2020

Phenotypic and cellular expression of two novel connexin32 mutations causing CMT1X.

1 reference

12 December 2020

Molecular genetics of X-linked Charcot-Marie-Tooth disease

1 reference

12 December 2020

Role of immune cells in animal models for inherited peripheral neuropathies

1 reference

12 December 2020

Therapeutic strategies for the inherited neuropathies.

1 reference

12 December 2020

The effects of a dominant connexin32 mutant in myelinating Schwann cells.

1 reference

12 December 2020

Gene transfer in humans using a conditionally replicating lentiviral vector

1 reference

12 December 2020

Signaling proteins in the axoglial apparatus of sciatic nerve nodes of Ranvier

1 reference

12 December 2020

CMT1X phenotypes represent loss of GJB1 gene function

1 reference

12 December 2020

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

1 reference

12 December 2020

Human oligodendrocytes express Cx31.3: function and interactions with Cx32 mutants

1 reference

12 December 2020

Central Nervous System Signs in X-Linked Charcot-Marie-Tooth Disease After Hyperventilation

1 reference

12 December 2020

Axon-glial signaling and the glial support of axon function

1 reference

12 December 2020

A V139M mutation also causes the reversible CNS phenotype in CMTX.

1 reference

12 December 2020

ATP release through connexin hemichannels and gap junction transfer of second messengers propagate Ca2+ signals across the inner ear

1 reference

12 December 2020

Comparative analysis of HIV-1-based lentiviral vectors bearing lyssavirus glycoproteins for neuronal gene transfer

1 reference

12 December 2020

Persistent CNS dysfunction in a boy with CMT1X.

1 reference

12 December 2020

Structure of the connexin 26 gap junction channel at 3.5 A resolution

1 reference

12 December 2020

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

1 reference

12 December 2020

Six new gap junction beta 1 gene mutations and their phenotypic expression in Czech patients with Charcot-Marie-Tooth disease

1 reference

12 December 2020

Genetic epidemiology of Charcot-Marie-Tooth in the general population.

1 reference

12 December 2020

GJB1/Connexin 32 whole gene deletions in patients with X-linked Charcot-Marie-Tooth disease

1 reference

12 December 2020

Charcot-Marie-Tooth Disease in Cyprus: Epidemiological, Clinical and Genetic Characteristics

1 reference

12 December 2020

Attenuation of MCP-1/CCL2 expression ameliorates neuropathy in a mouse model for Charcot-Marie-Tooth 1X

1 reference

12 December 2020

Axonal pathology precedes demyelination in a mouse model of X-linked demyelinating/type I Charcot-Marie Tooth neuropathy

1 reference

12 December 2020

A novel GJB1 frameshift mutation produces a transient CNS symptom of X-linked Charcot–Marie–Tooth disease

1 reference

12 December 2020

A novel deletion mutation in GJB1 causes X-linked Charcot-Marie-Tooth disease in a Han Chinese family

1 reference

12 December 2020

A retrospective review of X-linked Charcot-Marie-Tooth disease in childhood

1 reference

12 December 2020

A novel mutation in the nerve-specific 5'UTR of the GJB1 gene causes X-linked Charcot-Marie-Tooth disease.

1 reference

12 December 2020

Phenotype expression in women with CMT1X

1 reference

12 December 2020

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

1 reference

12 December 2020

X-linked dominant hereditary motor and sensory neuropathy

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12 December 2020

Hereditary motor and sensory neuropathy, X-linked: a half century follow-up

1 reference

12 December 2020

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

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12 December 2020

Protein zero (P0)-deficient mice show myelin degeneration in peripheral nerves characteristic of inherited human neuropathies

1 reference

12 December 2020

Axonal activation-induced calcium transients in myelinating Schwann cells, sources, and mechanisms.

1 reference

12 December 2020

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

1 reference

12 December 2020

A connexin-32 mutation associated with Charcot-Marie-Tooth disease does not affect channel formation in oocytes

1 reference

12 December 2020

Intermediate nerve conduction velocities define X-linked Charcot-Marie-Tooth neuropathy families

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Connections with connexins: the molecular basis of direct intercellular signaling

1 reference

12 December 2020

Slowing of central conduction in X-linked Charcot-Marie-Tooth neuropathy shown by brain stem auditory evoked responses

1 reference

12 December 2020

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

1 reference

12 December 2020

Epidemiology of peripheral neuropathy

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

Mutational analysis of the MPZ, PMP22 and Cx32 genes in patients of Spanish ancestry with Charcot-Marie-Tooth disease and hereditary neuropathy with liability to pressure palsies

1 reference

12 December 2020

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

12 December 2020

Changes in Permeability Caused by Connexin 32 Mutations Underlie X-Linked Charcot-Marie-Tooth Disease

1 reference

12 December 2020

Altered Trafficking of Mutant Connexin32

1 reference

12 December 2020

Charcot-Marie-Tooth disease with intermediate motor nerve conduction velocities: characterization of 14 Cx32 mutations in 35 families.

1 reference

12 December 2020

Charcot-Marie-Tooth disease: histopathological features of the peripheral myelin protein (PMP22) duplication (CMT1A) and connexin32 mutations (CMTX1)

1 reference

12 December 2020

Mutations of connexin32 in Charcot-Marie-Tooth disease type X interfere with cell-to-cell communication but not cell proliferation and myelin-specific gene expression.

1 reference

12 December 2020

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

1 reference

12 December 2020

Gene transfer to Schwann cells after peripheral nerve injury: a delivery system for therapeutic agents

1 reference

12 December 2020

X-linked Charcot-Marie-Tooth disease with connexin 32 mutations: clinical and electrophysiologic study

1 reference

12 December 2020

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

1 reference

12 December 2020

Connexin32-null mice develop demyelinating peripheral neuropathy

1 reference

12 December 2020

Functional gap junctions in the schwann cell myelin sheath

1 reference

12 December 2020

Efficient neurophysiologic selection of X-linked Charcot-Marie-Tooth families: ten novel mutations

1 reference

12 December 2020

Central nervous system involvement in four patients with Charcot-Marie-Tooth disease with connexin 32 extracellular mutations

1 reference

12 December 2020

10.1523/JNEUROSCI.4824-11.2011

Identifiers

DOI

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18 January 2020

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18 January 2020

PubMed publication ID

22159091

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