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

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

Mutations in the DNA-binding domain of EGR2 are associated with severe autosomal dominant forms of peripheral neuropathy. In this study, we show that one such Egr2 mutant (S382R, D383Y), when expressed in Schwann cells in vitro, is not transcriptionally inactive but retains residual wild-type Egr2 f...

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Bibliographic Details
Main Authors: Peter Arthur-Farraj, Rhona Mirsky, David B. Parkinson, Kristjan R. Jessen
Format: Article
Language:English
Published: Elsevier 2006-10-01
Series:Neurobiology of Disease
Subjects:
Schwann cell
CHN
Peripheral neuropathy
Krox-20
Proliferation
Neuregulin
Online Access:http://www.sciencedirect.com/science/article/pii/S0969996106001434

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http://www.sciencedirect.com/science/article/pii/S0969996106001434

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