• 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

Cystathionine beta-synthase: structure, function, regulation, and location of homocystinuria-causing mutations.

作者信息

Miles Edith Wilson, Kraus Jan P

机构信息

NIDDK, National Institutes of Health, Bethesda, Maryland 20892-0830, USA.

出版信息

J Biol Chem. 2004 Jul 16;279(29):29871-4. doi: 10.1074/jbc.R400005200. Epub 2004 Apr 15.

DOI:10.1074/jbc.R400005200
PMID:15087459
Abstract
摘要

相似文献

1
Cystathionine beta-synthase: structure, function, regulation, and location of homocystinuria-causing mutations.胱硫醚β-合酶：结构、功能、调节及导致同型胱氨酸尿症突变的位置
J Biol Chem. 2004 Jul 16;279(29):29871-4. doi: 10.1074/jbc.R400005200. Epub 2004 Apr 15.
2
Structural insights into mutations of cystathionine beta-synthase.胱硫醚β-合酶突变的结构见解
Biochim Biophys Acta. 2003 Apr 11;1647(1-2):206-13. doi: 10.1016/s1570-9639(03)00048-7.
3
Four novel mutations at the cystathionine beta-synthase locus causing homocystinuria.胱硫醚β-合酶基因座上导致同型胱氨酸尿症的四个新突变。
J Inherit Metab Dis. 1998 Dec;21(8):823-8. doi: 10.1023/a:1005466601461.
4
Cystathionine beta-synthase mutations: effect of mutation topology on folding and activity.胱硫醚-β-合酶突变：突变拓扑结构对折叠和活性的影响。
Hum Mutat. 2010 Jul;31(7):809-19. doi: 10.1002/humu.21273.
5
A pathogenic linked mutation in the catalytic core of human cystathionine beta-synthase disrupts allosteric regulation and allows kinetic characterization of a full-length dimer.人类胱硫醚β-合酶催化核心中的一个致病相关突变破坏了变构调节，并使得全长二聚体的动力学特征得以表征。
Biochemistry. 2007 Apr 3;46(13):4110-6. doi: 10.1021/bi602617f. Epub 2007 Mar 13.
6
Characterization of mutations in the cystathionine beta-synthase gene in Irish patients with homocystinuria.爱尔兰同型胱氨酸尿症患者胱硫醚β-合酶基因突变的特征分析
Mol Genet Metab. 1998 Dec;65(4):298-302. doi: 10.1006/mgme.1998.2771.
7
Cystathionine beta-synthase mutations in homocystinuria.同型胱氨酸尿症中的胱硫醚β-合酶突变
Hum Mutat. 1999;13(5):362-75. doi: 10.1002/(SICI)1098-1004(1999)13:5<362::AID-HUMU4>3.0.CO;2-K.
8
Mouse modeling and structural analysis of the p.G307S mutation in human cystathionine β-synthase () reveal effects on CBS activity but not stability.人胱硫醚-β-合酶（）p.G307S 突变的小鼠建模和结构分析显示其对 CBS 活性有影响，但对稳定性无影响。
J Biol Chem. 2018 Sep 7;293(36):13921-13931. doi: 10.1074/jbc.RA118.002164. Epub 2018 Jul 20.
9
Molecular genetic analysis of the cystathionine beta-synthase gene in Portuguese homocystinuria patients: three novel mutations.葡萄牙同型胱氨酸尿症患者胱硫醚β-合酶基因的分子遗传学分析：三个新突变
Clin Genet. 2001 Aug;60(2):161-3. doi: 10.1034/j.1399-0004.2001.600212.x.
10
In silico and in vivo models for Qatari-specific classical homocystinuria as basis for development of novel therapies.用于卡塔尔特异性经典同型胱氨酸尿症的计算机模拟和体内模型，作为开发新型疗法的基础。
Hum Mutat. 2019 Feb;40(2):230-240. doi: 10.1002/humu.23682. Epub 2018 Nov 23.

引用本文的文献

1
Cysteine-rich zinc finger proteins and the nuclear factor kappa-B pathway.富含半胱氨酸的锌指蛋白与核因子κB通路
Front Chem Biol. 2024;3. doi: 10.3389/fchbi.2024.1503390. Epub 2024 Dec 19.
2
Protective Role of HS in High Glucose-Induced Cardiomyocyte and Endothelial Cell Dysfunction: A Mechanistic Review.硫酸乙酰肝素在高糖诱导的心肌细胞和内皮细胞功能障碍中的保护作用：一项机制综述
Diabetes Metab Syndr Obes. 2025 May 1;18:1373-1388. doi: 10.2147/DMSO.S505138. eCollection 2025.
3
The cystathionine-γ-lyase inhibitor DL-propargylglycine augments the ability of L-cysteine ethyl ester to overcome the adverse effects of morphine on breathing.
胱硫醚-γ-裂解酶抑制剂DL-炔丙基甘氨酸增强了L-半胱氨酸乙酯克服吗啡对呼吸不良影响的能力。
Am J Physiol Lung Cell Mol Physiol. 2025 Jun 1;328(6):L809-L825. doi: 10.1152/ajplung.00003.2025. Epub 2025 Mar 18.
4
An Examination of Chemical Tools for Hydrogen Selenide Donation and Detection.用于硒化氢供体和检测的化学工具研究
Molecules. 2024 Aug 15;29(16):3863. doi: 10.3390/molecules29163863.
5
Pathogenic Homocystinuria-Associated T236N Mutation Dramatically Alters the Biochemical Properties of Cystathionine Beta-Synthase Protein.与致病性同型胱氨酸尿症相关的T236N突变显著改变了胱硫醚β-合酶蛋白的生化特性。
Biomedicines. 2024 Apr 23;12(5):929. doi: 10.3390/biomedicines12050929.
6
Architecture and regulation of filamentous human cystathionine beta-synthase.丝氨酸-β-内酰胺酶的结构和调控
Nat Commun. 2024 Apr 4;15(1):2931. doi: 10.1038/s41467-024-46864-x.
7
Role of Hydrogen Sulfide in Oncological and Non-Oncological Disorders and Its Regulation by Non-Coding RNAs: A Comprehensive Review.硫化氢在肿瘤性和非肿瘤性疾病中的作用及其受非编码RNA的调控：综述
Noncoding RNA. 2024 Jan 18;10(1):7. doi: 10.3390/ncrna10010007.
8
Inborn errors of amino acid metabolism - from underlying pathophysiology to therapeutic advances.氨基酸代谢障碍性疾病——从基础病理生理学到治疗学进展。
Dis Model Mech. 2023 Nov 1;16(11). doi: 10.1242/dmm.050233. Epub 2023 Nov 23.
9
Homocysteine and Glaucoma.同型半胱氨酸与青光眼。
Int J Mol Sci. 2023 Jun 28;24(13):10790. doi: 10.3390/ijms241310790.
10
satmut_utils: a simulation and variant calling package for multiplexed assays of variant effect.satmut_utils：用于多重变异效应分析的模拟和变异调用包。
Genome Biol. 2023 Apr 20;24(1):82. doi: 10.1186/s13059-023-02922-z.