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Article

Search for mutations in the EGR2 corepressor proteins, NAB1 and NAB2, in human peripheral neuropathies.

Neurogenetics - 1 Mar 2002

Venken Koen, Di Maria Emilio, Bellone Emilia, Balestra Piercesare, Cassandrini Denise, Mandich Paola, De Jonghe Peter, Timmerman Vincent, Svaren John

Abstract excerpt

EGR2/Krox-20, a Cys2-His2 zinc finger transcription factor, plays an essential role in the regulation of myelination in the peripheral nervous system. Dominant and recessive mutations in EGR2 are associated with peripheral myelinopathies, such as Charcot-Marie-Tooth disease type 1, Dejerine-Sottas syndrome, and congenital hypomyelinating neuropathy. One recessive mutation (I268N) is known to affect the inhibitory...

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Source

Identifiers

PMID: 12030330
DOI: 10.1007/s10048-001-0124-2

Genes

EGR2
NAB2
NAB1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Search for mutations in the EGR2 corepressor proteins, NAB1 and NAB2, in human peripheral neuropathies.PMID 12030330Read ↗

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A double point mutation in the DNA-binding region of Egr2 switches its function from inhibition to induction of proliferation: A potential contribution to the development of congenital hypomyelinating neuropathy.Semantic proximity Read ↗

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EGR1, EGR2, and EGR3 activate the expression of their coregulator NAB2 establishing a negative feedback loop in cells of neuroectodermal and epithelial originSemantic proximity Read ↗

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