• 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

Elevated cholesterol is a common phenotype for dominant and recessive ATAD3-associated disorders.

作者信息

Kiesel Ann-Sophie, Laugwitz Lucia, Buchert Rebecca, Grimmel Mona, Baumann Sarah, Sturm Marc, Reich Selina, Pauly Martje G, Brüggemann Norbert, Münchau Alexander, Oleksiuk Olga, Synofzik Matthis, Haack Tobias B, Peralta Susana

机构信息

Institute of Medical Genetics and Applied Genomics, University of Tübingen, 72076 Tübingen, Germany.

Department of Neuropediatrics, Developmental Neurology and Social Pediatrics, University of Tübingen, 72076 Tübingen, Germany.

出版信息

Brain. 2025 Apr 3;148(4):e24-e28. doi: 10.1093/brain/awae402.

DOI:10.1093/brain/awae402
PMID:39667038
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11967810/
Abstract
摘要
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/de75/11967810/0ca6093da627/awae402f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/de75/11967810/918dda36006d/awae402f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/de75/11967810/0ca6093da627/awae402f2.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/de75/11967810/918dda36006d/awae402f1.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/de75/11967810/0ca6093da627/awae402f2.jpg

相似文献

1
Elevated cholesterol is a common phenotype for dominant and recessive ATAD3-associated disorders.胆固醇升高是显性和隐性ATAD3相关疾病的常见表型。
Brain. 2025 Apr 3;148(4):e24-e28. doi: 10.1093/brain/awae402.
2
Elevated cholesterol in ATAD3 mutants is a compensatory mechanism that leads to membrane cholesterol aggregation.ATAD3突变体中胆固醇升高是一种导致膜胆固醇聚集的代偿机制。
Brain. 2024 May 3;147(5):1899-1913. doi: 10.1093/brain/awae018.
3
Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism.ATAD3 基因簇内的新发从头 NAHR 相互易位重复导致伴有胆固醇和线粒体代谢紊乱的神经遗传特征。
Am J Hum Genet. 2020 Feb 6;106(2):272-279. doi: 10.1016/j.ajhg.2020.01.007. Epub 2020 Jan 30.
4
Mutations in mitochondrial gene and disease, lessons from models.线粒体基因中的突变与疾病：模型带来的启示
Front Neurosci. 2024 Nov 13;18:1496142. doi: 10.3389/fnins.2024.1496142. eCollection 2024.
5
ATAD3 controls mitochondrial cristae structure in mouse muscle, influencing mtDNA replication and cholesterol levels.ATAD3 控制着小鼠肌肉中线粒体嵴的结构，影响着 mtDNA 复制和胆固醇水平。
J Cell Sci. 2018 Jul 4;131(13):jcs217075. doi: 10.1242/jcs.217075.
6
Fatal perinatal mitochondrial cardiac failure caused by recurrent duplications in the locus.由 位点反复重复引起的致命围产期线粒体心脏衰竭。
Med. 2021 Jan 15;2(1):49-73. doi: 10.1016/j.medj.2020.06.004. Epub 2020 Jul 9.
7
Mitochondria-associated membrane formation in hormone-stimulated Leydig cell steroidogenesis: role of ATAD3.激素刺激的睾丸间质细胞类固醇生成中的线粒体相关膜形成：ATAD3 的作用。
Endocrinology. 2015 Jan;156(1):334-45. doi: 10.1210/en.2014-1503.
8
ATAD3 is a limiting factor in mitochondrial biogenesis and adipogenesis of white adipocyte-like 3T3-L1 cells.ATAD3 是白色脂肪细胞样 3T3-L1 细胞中线粒体生物发生和脂肪生成的限制因素。
Cell Biol Int. 2024 Oct;48(10):1473-1489. doi: 10.1002/cbin.12206. Epub 2024 Jun 23.
9
Advancements in unravelling the fundamental function of the ATAD3 protein in multicellular organisms.揭示 ATAD3 蛋白在多细胞生物中基本功能的研究进展。
Adv Biol Regul. 2024 Aug;93:101041. doi: 10.1016/j.jbior.2024.101041. Epub 2024 Jun 18.
10
ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism.ATAD3基因簇缺失导致与线粒体DNA和胆固醇代谢改变相关的小脑功能障碍。
Brain. 2017 Jun 1;140(6):1595-1610. doi: 10.1093/brain/awx094.

本文引用的文献

1
Elevated cholesterol in ATAD3 mutants is a compensatory mechanism that leads to membrane cholesterol aggregation.ATAD3突变体中胆固醇升高是一种导致膜胆固醇聚集的代偿机制。
Brain. 2024 May 3;147(5):1899-1913. doi: 10.1093/brain/awae018.
2
ATAD3A-related pontocerebellar hypoplasia: new patients and insights into phenotypic variability.ATAD3A 相关性桥脑小脑发育不良：新病例及表型变异性分析。
Orphanet J Rare Dis. 2023 Apr 24;18(1):92. doi: 10.1186/s13023-023-02689-3.
3
ATAD3A has a scaffolding role regulating mitochondria inner membrane structure and protein assembly.
ATAD3A 具有支架作用，可调节线粒体内膜结构和蛋白质组装。
Cell Rep. 2021 Dec 21;37(12):110139. doi: 10.1016/j.celrep.2021.110139.
4
Functional interpretation of ATAD3A variants in neuro-mitochondrial phenotypes.神经-线粒体表型中 ATAD3A 变体的功能解释。
Genome Med. 2021 Apr 12;13(1):55. doi: 10.1186/s13073-021-00873-3.
5
Recurrent De Novo NAHR Reciprocal Duplications in the ATAD3 Gene Cluster Cause a Neurogenetic Trait with Perturbed Cholesterol and Mitochondrial Metabolism.ATAD3 基因簇内的新发从头 NAHR 相互易位重复导致伴有胆固醇和线粒体代谢紊乱的神经遗传特征。
Am J Hum Genet. 2020 Feb 6;106(2):272-279. doi: 10.1016/j.ajhg.2020.01.007. Epub 2020 Jan 30.
6
ATAD3 controls mitochondrial cristae structure in mouse muscle, influencing mtDNA replication and cholesterol levels.ATAD3 控制着小鼠肌肉中线粒体嵴的结构，影响着 mtDNA 复制和胆固醇水平。
J Cell Sci. 2018 Jul 4;131(13):jcs217075. doi: 10.1242/jcs.217075.
7
ATAD3 gene cluster deletions cause cerebellar dysfunction associated with altered mitochondrial DNA and cholesterol metabolism.ATAD3基因簇缺失导致与线粒体DNA和胆固醇代谢改变相关的小脑功能障碍。
Brain. 2017 Jun 1;140(6):1595-1610. doi: 10.1093/brain/awx094.
8
Complex lipid trafficking in Niemann-Pick disease type C.尼曼-匹克病C型中的复杂脂质转运
J Inherit Metab Dis. 2015 Jan;38(1):187-99. doi: 10.1007/s10545-014-9794-4. Epub 2014 Nov 26.