کد مقاله | کد نشریه | سال انتشار | مقاله انگلیسی | نسخه تمام متن |
---|---|---|---|---|
8323333 | 1539891 | 2014 | 6 صفحه PDF | دانلود رایگان |
عنوان انگلیسی مقاله ISI
New insights into the molecular pathophysiology of fragile X syndrome and therapeutic perspectives from the animal model
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کلمات کلیدی
mGluR5CB1 cannabinoid receptor - CB1 گیرنده کانابینوئیدAnxiety - اضطرابAutism - اوتیسم یا درخودماندگیEpilepsy - بیماری صرعfragile X syndrome - سندرم X شکننده endocannabinoid system - سیستم اندوکانبینیدnociception - غربالگریintellectual disability - ناتوانی ذهنیMammalian target of rapamycin (mTOR) - هدف پستانداران رپامایسین (mTOR)
موضوعات مرتبط
علوم زیستی و بیوفناوری
بیوشیمی، ژنتیک و زیست شناسی مولکولی
زیست شیمی
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چکیده انگلیسی
Fragile X syndrome is the most common monogenetic form of intellectual disability and is a leading cause of autism. This syndrome is produced by the reduced transcription of the fragile X mental retardation (FMR1) gene, and it is characterized by a range of symptoms heterogeneously expressed in patients such as cognitive impairment, seizure susceptibility, altered pain sensitivity and anxiety. The recent advances in the understanding of the pathophysiological mechanisms involved have opened novel potential therapeutic approaches identified in preclinical rodent models as a necessary preliminary step for the subsequent evaluation in patients. Among those possible therapeutic approaches, the modulation of the metabotropic glutamate receptor signaling or the GABA receptor signaling have focused most of the attention. New findings in the animal models open other possible therapeutic approaches such as the mammalian target of rapamycin signaling pathway or the endocannabinoid system. This review summarizes the emerging data recently obtained in preclinical models of fragile X syndrome supporting these new therapeutic perspectives.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: The International Journal of Biochemistry & Cell Biology - Volume 53, August 2014, Pages 121-126
Journal: The International Journal of Biochemistry & Cell Biology - Volume 53, August 2014, Pages 121-126
نویسندگان
Arnau Busquets-Garcia, Rafael Maldonado, Andrés Ozaita,