Different consequences of EGR2 mutants on the transactivation of human Cx32 promoter. (Q34180169)

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31 October 2019

title

Different consequences of EGR2 mutants on the transactivation of human Cx32 promoter (English)

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31 October 2019

3

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31 October 2019

Paola Mandich

5

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31 October 2019

author name string

Marco Musso

1

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31 October 2019

Piercesare Balestra

2

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31 October 2019

Emilia Bellone

4

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31 October 2019

publication date

1 February 2003

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31 October 2019

published in

Neurobiology of Disease

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31 October 2019

volume

12

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31 October 2019

issue

1

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31 October 2019

page(s)

89-95

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A Novel Mutation (D305V) in the early growth response 2 gene is associated with severe Charcot-Marie-Tooth type 1 disease

31 October 2019

cites work

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Human Connexin 32, a gap junction protein altered in the X-linked form of Charcot-Marie-Tooth disease, is directly regulated by the transcription factor SOX10

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Binding studies with mutants of Zif268. Contribution of individual side chains to binding affinity and specificity in the Zif268 zinc finger-DNA complex

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A mutation in periaxin is responsible for CMT4F, an autosomal recessive form of Charcot-Marie-Tooth disease

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The D355V mutation decreases EGR2 binding to an element within the Cx32 promoter

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EGR2 mutations in inherited neuropathies dominant-negatively inhibit myelin gene expression.

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Base sequence discrimination by zinc-finger DNA-binding domains.

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Cranial nerve involvement in CMT disease type 1 due to early growth response 2 gene mutation

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Zinc finger-DNA recognition: crystal structure of a Zif268-DNA complex at 2.1 A

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DNA-binding specificity of NGFI-A and related zinc finger transcription factors

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Novel missense mutation in the early growth response 2 gene associated with Dejerine-Sottas syndrome phenotype

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Krox-20 controls myelination in the peripheral nervous system

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Single-step purification of bacterially expressed polypeptides containing an oligo-histidine domain.

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Mutations in the early growth response 2 (EGR2) gene are associated with hereditary myelinopathies

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7 January 2021

Functional consequences of mutations in the early growth response 2 gene (EGR2) correlate with severity of human myelinopathies.

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A novel missense mutation in the early growth response 2 gene associated with late-onset Charcot--Marie--Tooth disease type 1.

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7 January 2021

10.1016/S0969-9961(02)00018-9

Identifiers

DOI

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31 October 2019

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