Suppr超能文献

线粒体膜蛋白相关神经退行性变的最新进展与展望及研究

An Update and Perspectives on Mitochondrial Membrane Protein-Associated Neurodegeneration and Research.

作者信息

Gnutti Barbara, Iuso Arcangela, Angelini Chloé, Finazzi Dario

机构信息

Section of Biotechnology, Department of Molecular and Translational Medicine, University of Brescia, 25123 Brescia, Italy.

Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, 81675 Munich, Germany.

出版信息

Brain Sci. 2025 Jul 22;15(8):777. doi: 10.3390/brainsci15080777.

Abstract

Mitochondrial Membrane Protein-Associated Neurodegeneration is a rare monogenic form of neurodegeneration characterized by iron accumulation in the brain. It is due to variants in the orphan gene . Since its definition in 2011, many scientific groups have investigated the clinical features and molecular underpinnings of the disorder. In this review, we summarize the main points of progress in this field, trying to highlight the issues that need further attention and efforts to speed up the diagnostic path, improve the existing treatment options, and define targeted therapies.

摘要

线粒体膜蛋白相关神经退行性变是一种罕见的单基因神经退行性疾病,其特征是大脑中铁蓄积。它是由孤儿基因的变异引起的。自2011年被定义以来,许多科学团队对该疾病的临床特征和分子基础进行了研究。在本综述中,我们总结了该领域的主要进展,试图突出需要进一步关注和努力的问题,以加快诊断进程、改善现有治疗方案并确定靶向治疗方法。

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