کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
10871664 | 1074065 | 2012 | 5 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Molecular insights into the WW domain of the Golabi-Ito-Hall syndrome protein PQBP1
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کلمات کلیدی
موضوعات مرتبط
علوم زیستی و بیوفناوری
علوم کشاورزی و بیولوژیک
دانش گیاه شناسی
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![عکس صفحه اول مقاله: Molecular insights into the WW domain of the Golabi-Ito-Hall syndrome protein PQBP1 Molecular insights into the WW domain of the Golabi-Ito-Hall syndrome protein PQBP1](/preview/png/10871664.png)
چکیده انگلیسی
The WW domain-containing PQBP1 (polyglutamine tract-binding protein 1) protein regulates mRNA processing and gene transcription. Mutations in the PQBP1 gene were reported in several X chromosome-linked intellectual disability (XLID) disorders, including Golabi-Ito-Hall (GIH) syndrome. The missense mutation in the GIH syndrome maps within a functional region of the PQBP1 protein known as the WW domain. The causative mutation of PQBP1 replaces the conserved tyrosine (Y) at position 65 within the aromatic core of the WW domain to cysteine (C), which is a chemically significant change. In this short review, we analyze structural models of the Y65C mutated and wild type WW domains of PQBP1 in order to infer potential molecular mechanisms that render the mutated PQBP1 protein inactive in terms of ligand binding and its function as a regulator of mRNA splicing.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: FEBS Letters - Volume 586, Issue 17, 14 August 2012, Pages 2795-2799
Journal: FEBS Letters - Volume 586, Issue 17, 14 August 2012, Pages 2795-2799
نویسندگان
Marius Sudol, Caleb B. McDonald, Amjad Farooq,