Frataxin is a protein that in humans is encoded by the FXN gene. [5] [6] It is located in the mitochondrion and Frataxin mRNA is mostly expressed in tissues with a high metabolic rate. …

弗里德赖希共济失调 (Friedreich’s ataxia)是一种罕见的常染色体隐性遗传疾病，由编码Frataxin (FXN)基因的第一个内含子上的GAA三联密码子重复扩展突变所导致。FXN是一种主要位于线 …

Frataxin, a conserved protein found ubiquitously in prokaryotes and eukaryotes, is required for the cellular regulation of iron homeostasis. Although of extreme interest to many chemists and …

5 天之前 · Frataxin is a small protein involved in the rare disease Friedreich’s ataxia. During the last few years, significant knowledge has been gained concerning frataxin folding, structure, …

2023年12月8日 · Friedreich ataxia (FRDA) is a rare, inherited neurodegenerative disease caused by an expanded GAA repeat in the first intron of the FXN gene, leading to transcriptional …

Frataxin is a highly conserved iron-binding protein present in most organisms. Despite the intense interest generated since the determination of its pathology, identification of the cellular function …

4 天之前 · frataxin 在折叠过程中，涉及多种分子机制，不同的折叠阶段受到特定因素的调控。 其结构呈现出独特的特征，这对其功能的发挥起着关键作用。 通过研究发现，frataxin 的动力学 …

frataxin 定 义 含210个氨基酸残基的蛋白质，发现于弗里德赖希(Friedreich s)共济失调症，其基因在某些患者体内发生点突变，但大多数为第一个内含子中出现不稳定GAA三核苷酸扩增的纯合 …

Frataxin is an important iron regulatory protein whose reduced expression is responsible for Friedreich's Ataxia (FA), the most common inherited ataxia (Pandolfo, 2008). FA is caused by …

2020年1月15日 · Mammalian frataxin is a small mitochondrial protein involved in iron sulfur cluster assembly. Frataxin deficiency causes the neurodegenerative disease Friedreich’s Ataxia. …