کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
5738473 | 1615056 | 2017 | 5 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
Novel and functional ATG12 gene variants in sporadic Parkinson's disease
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کلمات کلیدی
SNCAorthodenticle homeobox 2microtubule-associated proteins 1A/1B light chain 3Transcription factor AP-2PTEN-induced kinase 1TFAP2Otx1VPS35DNA sequence variantsDSVsEtv5OTX2SH-SY5YGBAATGAtg12MAP1LC3PINK1LRRK2CMAChaperone-mediated autophagy - Autofagy متعهد ChaperoneAutophagy - اتوفاژیParkinson's disease - بیماری پارکینسونleucine-rich repeat kinase 2 - تکرار کیناز 2 غنی از لوسینPromoter - پروموترautophagy-related gene - ژن مربوط به autophagyglucocerebrosidase - گلوکوکروبروزیداز
موضوعات مرتبط
علوم زیستی و بیوفناوری
علم عصب شناسی
علوم اعصاب (عمومی)
پیش نمایش صفحه اول مقاله
چکیده انگلیسی
Previously, we have genetically analyzed ATG5 and ATG7 genes in sporadic PD patients and identified several functional DNA sequence variants (DSVs). In groups of sporadic PD patients and ethic-matched healthy controls in this study, we further genetically and functionally analyzed the promoter of ATG12, a critical gene for autophagososme formation. The results showed that three DNA sequence variants (DSVs), g.115842507G > T, g.115842394C > T and g.115841817_18del, were identified three PD patients, which significantly altered transcriptional activity of ATG12 gene promoter, probably due to abolishing or creating binding sites for transcription factors. The transcriptional activity of ATG12 gene promoter was not significantly affected by other two DSVs identified in PD patients, g.115842640A > C and g.115842242G > C, which may not alter binding sites for transcription factors. Therefore, these three functional DSVs identified in PD patient may change ATG12 protein levels, contributing to PD development as a risk factor by interfering with autophagy as well as non-autophagy functions.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Neuroscience Letters - Volume 643, 16 March 2017, Pages 22-26
Journal: Neuroscience Letters - Volume 643, 16 March 2017, Pages 22-26
نویسندگان
Yuequn Li, Jian Huang, Shuchao Pang, Haihua Wang, Aimei Zhang, Robert G. Hawley, Bo Yan,