• 文献检索
  • 文档翻译
  • 深度研究
  • 学术资讯
  • Suppr Zotero 插件Zotero 插件
  • 邀请有礼
  • 套餐&价格
  • 历史记录
应用&插件
Suppr Zotero 插件Zotero 插件浏览器插件Mac 客户端Windows 客户端微信小程序
定价
高级版会员购买积分包购买API积分包
服务
文献检索文档翻译深度研究API 文档MCP 服务
关于我们
关于 Suppr公司介绍联系我们用户协议隐私条款
关注我们

Suppr 超能文献

核心技术专利：CN118964589B侵权必究
粤ICP备2023148730 号-1Suppr @ 2026

文献检索

告别复杂PubMed语法，用中文像聊天一样搜索，搜遍4000万医学文献。AI智能推荐，让科研检索更轻松。

立即免费搜索

文件翻译

保留排版，准确专业，支持PDF/Word/PPT等文件格式，支持 12+语言互译。

免费翻译文档

深度研究

AI帮你快速写综述，25分钟生成高质量综述，智能提取关键信息，辅助科研写作。

立即免费体验

CAD Deficiency-Another Treatable Early Infantile Epileptic Encephalopathy.

作者信息

Kamate Mahesh, Patil Supriya

机构信息

Division of Pediatric Neurology and Child Development Centre, KAHER's J N Medical College, Belgaum, Karnataka, India.

Department of Pediatrics, KAHER's J N Medical College, Belgaum, Karnataka, India.

出版信息

Pediatr Neurol. 2020 Sep;110:97-98. doi: 10.1016/j.pediatrneurol.2020.05.001. Epub 2020 May 21.

DOI:10.1016/j.pediatrneurol.2020.05.001
PMID:32654958
Abstract
摘要

相似文献

1
CAD Deficiency-Another Treatable Early Infantile Epileptic Encephalopathy.CAD缺乏症——另一种可治疗的早期婴儿癫痫性脑病。
Pediatr Neurol. 2020 Sep;110:97-98. doi: 10.1016/j.pediatrneurol.2020.05.001. Epub 2020 May 21.
2
Uridine-responsive epileptic encephalopathy due to inherited variants in CAD: A Tale of Two Siblings.CAD 基因突变所致尿苷反应性癫痫性脑病：两例同胞兄妹的故事。
Ann Clin Transl Neurol. 2021 Mar;8(3):716-722. doi: 10.1002/acn3.51272. Epub 2021 Jan 26.
3
CAD mutations and uridine-responsive epileptic encephalopathy.CAD 突变与尿苷反应性癫痫性脑病。
Brain. 2017 Feb;140(2):279-286. doi: 10.1093/brain/aww300. Epub 2016 Dec 21.
4
Triacetyluridine treats epileptic encephalopathy from CAD mutations: a case report and review.三乙酰尿苷治疗 CAD 突变致癫痫性脑病：病例报告及文献复习。
Ann Clin Transl Neurol. 2021 Jan;8(1):284-287. doi: 10.1002/acn3.51257. Epub 2020 Nov 29.
5
Cell-based analysis of CAD variants identifies individuals likely to benefit from uridine therapy.基于细胞的 CAD 变体分析可识别出可能受益于尿苷治疗的个体。
Genet Med. 2020 Oct;22(10):1598-1605. doi: 10.1038/s41436-020-0833-2. Epub 2020 May 28.
6
Uridine treatment normalizes the congenital dyserythropoietic anemia type II-like hematological phenotype in a patient with homozygous mutation in the CAD gene.尿苷治疗可使一名CAD基因纯合突变患者的II型先天性红细胞生成异常性贫血样血液学表型恢复正常。
Am J Hematol. 2020 Nov;95(11):1423-1426. doi: 10.1002/ajh.25946. Epub 2020 Aug 19.
7
CAD gene and early infantile epileptic encephalopathy-50; three Iranian deceased patients and a novel mutation: case report.CAD 基因与早发性婴儿癫痫性脑病-50；三位伊朗死亡患者和一个新突变：病例报告。
BMC Pediatr. 2022 Mar 11;22(1):125. doi: 10.1186/s12887-022-03195-4.
8
Heat sensitivity and Sp1 activation of complex formation at the Syrian hamster carbamoyl-phosphate synthase (glutamine-hydrolyzing)/aspartate carbamoyltransferase/dihydroorotase promoter in vitro.叙利亚仓鼠氨甲酰磷酸合成酶（谷氨酰胺水解型）/天冬氨酸氨甲酰转移酶/二氢乳清酸酶启动子在体外的热敏感性及复合物形成的Sp1激活作用
J Biol Chem. 1992 Jan 5;267(1):385-91.
9
Rheb protein binds CAD (carbamoyl-phosphate synthetase 2, aspartate transcarbamoylase, and dihydroorotase) protein in a GTP- and effector domain-dependent manner and influences its cellular localization and carbamoyl-phosphate synthetase (CPSase) activity.Rheb蛋白以GTP和效应结构域依赖性方式结合CAD（氨甲酰磷酸合成酶2、天冬氨酸转氨甲酰酶和二氢乳清酸酶）蛋白，并影响其细胞定位和氨甲酰磷酸合成酶（CPSase）活性。
J Biol Chem. 2015 Jan 9;290(2):1096-105. doi: 10.1074/jbc.M114.592402. Epub 2014 Nov 24.
10
Functional linkage between the glutaminase and synthetase domains of carbamoyl-phosphate synthetase. Role of serine 44 in carbamoyl-phosphate synthetase-aspartate carbamoyltransferase-dihydroorotase (cad).氨甲酰磷酸合成酶的谷氨酰胺酶结构域与合成酶结构域之间的功能联系。丝氨酸44在氨甲酰磷酸合成酶-天冬氨酸氨甲酰转移酶-二氢乳清酸酶（CAD）中的作用。
J Biol Chem. 1999 Oct 1;274(40):28240-5. doi: 10.1074/jbc.274.40.28240.

引用本文的文献

1
Epileptic Encephalopathy Related to CAD Deleterious Variants-A Case Series.与CAD有害变异相关的癫痫性脑病——病例系列
Diseases. 2025 Mar 22;13(4):91. doi: 10.3390/diseases13040091.
2
The Loop-In Binding Mode of Dihydroorotase: Implications for Ligand Binding and Therapeutic Targeting.二氢乳清酸酶的环内结合模式：对配体结合和治疗靶点的影响。
Int J Mol Sci. 2025 Feb 6;26(3):1359. doi: 10.3390/ijms26031359.
3
Novel CAD gene mutations in a boy with developmental and epileptic encephalopathy 50 with dramatic response to uridine therapy: a case report and a review of the literature.
一例伴有新型 CAD 基因突变的发育性和癫痫性脑病 50 型患儿对尿苷治疗有显著反应：病例报告及文献复习
BMC Pediatr. 2024 Mar 7;24(1):160. doi: 10.1186/s12887-024-04593-6.
4
A Treatable Genetic Disease Caused by CAD Mutation.一种由CAD突变引起的可治疗的遗传疾病。
Front Pediatr. 2022 Mar 9;10:771374. doi: 10.3389/fped.2022.771374. eCollection 2022.
5
Uridine monophosphate (UMP)-responsive developmental and epileptic encephalopathy: A case report of two siblings and a review of literature.尿苷单磷酸（UMP）反应性发育性和癫痫性脑病：两例同胞病例报告及文献复习
Mol Genet Metab Rep. 2021 Dec 16;30:100835. doi: 10.1016/j.ymgmr.2021.100835. eCollection 2022 Mar.