Genetics of glutamate and its receptors in autism spectrum disorder.
Genetics of glutamate and its receptors in autism spectrum disorder.
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DOI：
10.1038/s41380-022-01506-w
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发表时间：
2022-05
影响因子：
11
通讯作者：
Haris, Mohammad
中科院分区：
文献类型：
--
作者：
Nisar, Sabah;Bhat, Ajaz A.;Masoodi, Tariq;Hashem, Sheema;Akhtar, Sabah;Ali, Tayyiba Akbar;Amjad, Sara;Chawla, Sanjeev;Bagga, Puneet;Frenneaux, Michael P.;Reddy, Ravinder;Fakhro, Khalid;Haris, Mohammad
自闭症谱系障碍（ASD）是一种神经发育障碍，其特征是社交技能缺陷，沟通障碍以及被认为是由于神经传递过程改变而导致的重复和限制行为。谷氨酸是人类大脑中一种重要的兴奋性神经递质，它调节认知功能，如学习和记忆，这通常在ASD中受损。在过去的几年中，越来越多的证据从遗传学，神经影像学，蛋白质表达和动物模型研究支持谷氨酸代谢改变的概念，提高了评估ASD的谷氨酸能功能障碍的兴趣。大量的药理学、行为学和影像学研究已经证明了兴奋性和抑制性神经递质的不平衡，从而揭示了ASD病理学中神经元能系统的参与。在这里，我们回顾了遗传改变对ASD中谷氨酸及其受体的影响，以及非侵入性成像方式在检测这些变化中的作用。我们还强调了潜在的治疗靶点与受损的多巴胺能通路。
Autism spectrum disorder (ASD) is a neurodevelopmental impairment characterized by deficits in social interaction skills, impaired communication, and repetitive and restricted behaviors that are thought to be due to altered neurotransmission processes. The amino acid glutamate is an essential excitatory neurotransmitter in the human brain that regulates cognitive functions such as learning and memory, which are usually impaired in ASD. Over the last several years, increasing evidence from genetics, neuroimaging, protein expression, and animal model studies supporting the notion of altered glutamate metabolism has heightened the interest in evaluating glutamatergic dysfunction in ASD. Numerous pharmacological, behavioral, and imaging studies have demonstrated the imbalance in excitatory and inhibitory neurotransmitters, thus revealing the involvement of the glutamatergic system in ASD pathology. Here, we review the effects of genetic alterations on glutamate and its receptors in ASD and the role of non-invasive imaging modalities in detecting these changes. We also highlight the potential therapeutic targets associated with impaired glutamatergic pathways.
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影响因子：
2.9
作者：
Bernardi S;Anagnostou E;Shen J;Kolevzon A;Buxbaum JD;Hollander E;Hof PR;Fan J
通讯作者：
Fan J
影响因子：
3.7
作者：
Bejjani A;O'Neill J;Kim JA;Frew AJ;Yee VW;Ly R;Kitchen C;Salamon N;McCracken JT;Toga AW;Alger JR;Levitt JG
通讯作者：
Levitt JG
DOI：
10.1073/pnas.1002285107
发表时间：
2010-07-20
影响因子：
11.1
作者：
Bedogni, Francesco;Hodge, Rebecca D.;Hevner, Robert F.
通讯作者：
Hevner, Robert F.
影响因子：
17.7
作者：
Allen, G;Courchesne, E
通讯作者：
Courchesne, E
影响因子：
11
作者：
Tao, Wucheng;Ma, Chenxue;Bemben, Michael A.;Li, Kathy H.;Burlingame, Alma L.;Zhang, Mingjie;Nicoll, Roger A.
通讯作者：
Nicoll, Roger A.