Cellular mechanisms of connexin32 mutations associated with CNS manifestations (Q44059866)

29 November 2017

Cellular mechanisms of connexin32 mutations associated with CNS manifestations (English)

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29 November 2017

3

Steven S Scherer

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29 November 2017

Kleopas A Kleopa

1

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PubMed ID

12111842

29 November 2017

Sabrina W Yum

series ordinal

2

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29 November 2017

1 June 2002

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Journal of Neuroscience Research

29 November 2017

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29 November 2017

68

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29 November 2017

5

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29 November 2017

522-534

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On the molecular architecture of myelinated fibers

29 November 2017

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Central visual, acoustic, and motor pathway involvement in a Charcot-Marie-Tooth family with an Asn205Ser mutation in the connexin 32 gene

21 January 2018

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

21 January 2018

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Connexin32 and X-linked Charcot-Marie-Tooth disease

21 January 2018

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Studies on cultured rat Schwann cells. I. Establishment of purified populations from cultures of peripheral nerve

21 January 2018

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

21 January 2018

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Connections with connexins: the molecular basis of direct intercellular signaling

21 January 2018

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PMP22 carrying the trembler or trembler-J mutation is intracellularly retained in myelinating Schwann cells

21 January 2018

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The gap junction family: structure, function and chemistry

21 January 2018

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

21 January 2018

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A cellular mechanism governing the severity of Pelizaeus-Merzbacher disease.

21 January 2018

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Many naturally occurring mutations of myelin proteolipid protein impair its intracellular transport.

21 January 2018

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Disrupted proteolipid protein trafficking results in oligodendrocyte apoptosis in an animal model of Pelizaeus-Merzbacher disease.

21 January 2018

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Maturation-dependent apoptotic cell death of oligodendrocytes in myelin-deficient rats.

21 January 2018

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Aggresomes: a cellular response to misfolded proteins

21 January 2018

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An impaired routing of wild-type aquaporin-2 after tetramerization with an aquaporin-2 mutant explains dominant nephrogenic diabetes insipidus

21 January 2018

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Connexin32 in oligodendrocytes and association with myelinated fibers in mouse and rat brain.

21 January 2018

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Glial growth factors are alternatively spliced erbB2 ligands expressed in the nervous system

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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PMP22 accumulation in aggresomes: implications for CMT1A pathology

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Molecular genetics of demyelination: new wrinkles on an old membrane

21 January 2018

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Phenotypic severity of murine Plp mutants reflects in vivo and in vitro variations in transport of PLP isoproteins

21 January 2018

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Differential aggregation of the Trembler and Trembler J mutants of peripheral myelin protein 22

21 January 2018

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

21 January 2018

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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.

21 January 2018

1 reference

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

21 January 2018

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21 January 2018

Identifiers

DOI

10.1002/JNR.10255

1 reference

29 November 2017

1 reference

PubMed ID

12111842