کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
1934195 | 1050635 | 2008 | 6 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
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)
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کلمات کلیدی
موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
زیست شیمی
پیش نمایش صفحه اول مقاله
چکیده انگلیسی
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 homology domain and a novel domain located in the C-terminus. The octapeptide motif functions through interaction with members of the Groucho family of co-repressors. The C-terminal domain functions through interaction with C-terminal binding protein (CtBP).
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Biochemical and Biophysical Research Communications - Volume 377, Issue 1, 5 December 2008, Pages 73–78
Journal: Biochemical and Biophysical Research Communications - Volume 377, Issue 1, 5 December 2008, Pages 73–78
نویسندگان
Amy N. Fullenkamp, Heithem M. El-Hodiri,