精准医学中的不精确性：疾病相关GluN2A突变对NMDA通道阻断剂差异反应的数据表
研究GluN2A-P552R突变对NMDA通道阻断剂差异反应的数据表，涉及癫痫神经毒性实验。
基本信息
资源简介
精准医学中的不精确性：疾病相关GluN2A突变对NMDA通道阻断剂差异反应的数据表
【一句话概览】
本数据集是 figshare 公开的结构化表格数据集，收录 1 个文件、合计 2.15 MB，主题涵盖 GRIN2A gene、GluN2A subunit、memantine、ketamine、precision medicine，可用于统计建模、特征工程与队列分析，CC BY 4.0 许可开放获取。
【数据集背景】
本数据集源站标题为《DataSheet1_Imprecision in Precision Medicine: Differential Response of a Disease-Linked GluN2A Mutant to NMDA Channel Blockers.docx》。配套论文《Indistinguishable Synaptic Pharmacodynamics of the N-Methyl-d-Aspartate Receptor Channel Blockers Memantine and Ketamine》发表于 Molecular Pharmacology（2013），DOI：10.1124/mol.113.089334。源站首次发布：2021-10-28。
【数据内容】
源站原始描述：Mutations in N-methyl-d-aspartate receptors (NMDAR) subunits have been implicated in a growing number of human neurodevelopmental disorders. Previously, a de novo mutation in GRIN2A, encoding the GluN2A subunit, was identified in a patient with severe epilepsy and developmental delay. This missense mutation, which leads to GluN2A-P552R, produces significant dendrotoxicity in transfected rodent cortical neurons, as evidenced by pronounced dendritic blebbing. This injurious process can be prevente…
中文译文（机器翻译，仅供快速理解，请以原文为准）：N-甲基-D-天冬氨酸受体（NMDAR）亚基突变已被认为与越来越多的人类神经发育障碍有关。此前，在一名患有严重癫痫和发育迟缓的患者中，发现了一个编码GluN2A亚基的GRIN2A基因的新发突变。该错义突变导致GluN2A-P552R，可在转染的啮齿动物皮层神经元中产生显著的树突毒性，表现为明显的树突起泡。这种损伤过程可通过使用NMDA拮抗剂美金刚治疗来预防。鉴于FDA批准的NMDA拮抗剂越来越多地被用于治疗GRIN突变患者——这些患者可能对传统抗癫痫药物难治——我们研究了其他NMDA拮抗剂是否能有效减轻与GluN2A-P552R表达相关的神经毒性。有趣的是，我们发现，虽然美金刚治疗可有效阻断GluN2A-P552R介导的树突毒性，但氯胺酮治疗却不能，尽管这两种药物都作为开放型NMDAR通道阻滞剂发挥作用。有趣的是，我们发现表达GluN2A-P552R的神经元更容易受到兴奋性毒性损伤——
【数据结构与技术规格】
文件数 1 个，合计 2.15 MB。DataSheet1_Imprecision in Precision Medicine: Differential Response of a Disease-Linked GluN2A Mutant to NMDA Channel Blockers.docx：application/vnd.openxmlformats-officedocument.wordprocessingml.document，2.15 MB。数据集 DOI：10.3389/fphar.2021.773455.s001。
【主题与分类】
源站学科分类：Basic Pharmacology、Clinical Pharmacology and Therapeutics、Clinical Pharmacy and Pharmacy Practice、Pharmaceutical Sciences、Pharmacogenomics、Pharmacology。主题标签：GRIN2A gene、GluN2A subunit、memantine、ketamine、precision medicine、N-methyl-d-aspartate receptor、channelopathy。
【适用方向】
结构化表格数据可直接用于统计建模、特征工程与队列分析。
【获取与许可】
源站页面：https://frontiersin.figshare.com/articles/dataset/DataSheet1_Imprecision_in_Precision_Medicine_Differential_Response_of_a_Disease-Linked_GluN2A_Mutant_to_NMDA_Channel_Blockers_docx/16894219
使用许可：CC BY 4.0（https://creativecommons.org/licenses/by/4.0/）。
规范引用：Gale, Jenna R.; Kosobucki, Gabrielle J.; Hartnett-Scott, Karen A.; Aizenman, Elias (2021). DataSheet1_Imprecision in Precision Medicine: Differential Response of a Disease-Linked GluN2A Mutant to NMDA Channel Blockers.docx. Frontiers. Dataset
【使用注意】
· 源站最后修改于 2023-06-08，引用时请注意版本时效。
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使用方式
数据集获取（Figshare）
- 源站标题：DataSheet1_Imprecision in Precision Medicine: Differential Response of a Disease-Linked GluN2A Mutant to NMDA Channel Blockers.docx
- DOI：10.3389/fphar.2021.773455.s001
- 发布日期：2021-10-28
- 文件数：1 个
- 文件总体积：2.15 MB
- 源站页面：https://frontiersin.figshare.com/articles/dataset/DataSheet1_Imprecision_in_Precision_Medicine_Differential_Response_of_a_Disease-Linked_GluN2A_Mutant_to_NMDA_Channel_Blockers_docx/16894219
命令行下载
curl -L -o "DataSheet1_Imprecision in Precision Medicine: Differential Response of a Disease-Linked GluN2A Mutant to NMDA Channel Blockers.docx" "https://ndownloader.figshare.com/files/31240957"
文件清单
DataSheet1_Imprecision in Precision Medicine: Differential Response of a Disease-Linked GluN2A Mutant to NMDA Channel Blockers.docx（2.15 MB）
文件总体积 2.15 MB（源站 API 实测）。
数据说明
Mutations in N-methyl-d-aspartate receptors (NMDAR) subunits have been implicated in a growing number of human neurodevelopmental disorders. Previously, a de novo mutation in GRIN2A, encoding the GluN2A subunit, was identified in a patient with severe epilepsy and developmental delay. This missense mutation, which leads to GluN2A-P552R, produces significant dendrotoxicity in transfected rodent cortical neurons, as evidenced by pronounced dendritic blebbing. This injurious process can be prevented by treatment with the NMDA antagonist memantine. Given the increasing use of FDA approved NMDA antagonists to treat patients with GRIN mutations, who may have seizures refractory to traditional anti-epileptic drugs, we investigated whether additional NMDA antagonists were effective in attenuating neurotoxicity associated with GluN2A-P552R expression. Intriguingly, we found that while treatment with memantine can effectively block GluN2A-P552R-mediated dendrotoxicity, treatment with ketamine does not, despite the fact that both drugs work as open NMDAR channel blockers. Interestingly, we found that neurons expressing GluN2A-P552R were more vulnerable to an excitotoxic insult—an effect that, in this case, could be equally rescued by both memantine and ketamine. These findings suggest that GluN2A-P552R induced dendrotoxicity and increased vulnerability to excitotoxic stress are mediated through two distinct mechanisms. The differences between memantine and ketamine in halting GluN2A-P552R dendrotoxicity could not be explained by NMDA antagonist induced changes in MAP or Src kinase activation, previously shown to participate in NMDA-induced excitotoxicity. Our findings strongly suggest that not all NMDA antagonists may be of equal clinical utility in treating GRIN2A-mediated neurological disorders, despite a shared mechanism of action.
许可
CC BY 4.0
引用
学术使用请引用 DOI 10.3389/fphar.2021.773455.s001（source: https://frontiersin.figshare.com/articles/dataset/DataSheet1_Imprecision_in_Precision_Medicine_Differential_Response_of_a_Disease-Linked_GluN2A_Mutant_to_NMDA_Channel_Blockers_docx/16894219）。
数据缺失？
依托陕西、四川两大基地，我们与超过十家三甲医院建立直接合作关系，覆盖合规授权、采集治理、专业标注、数据交付的全流程，为AI医疗团队提供即拿即用的高质量临床数据。
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