Article
The function of the Aristaless-related homeobox (Arx) gene product as a transcriptional repressor is diminished by mutations associated with X-linked mental retardation (XLMR).
Biochemical and biophysical research communications - 5 Dec 2008
Fullenkamp Amy N, El-Hodiri Heithem M
Abstract excerpt
The Aristaless-related homeobox (Arx) is mutated in patients with X-linked mental retardation and a range of other neurological diseases. The molecular consequences of these mutations are unclear. Here, we show that two disease-associated mutations disrupt the function of Arx as a transcriptional repressor. We found that Arx contains two independent repression domains: an N-terminal octapeptide motif/engrailed...
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