Friedreich's ataxia: new insights

被引：3
|
作者：
Krasilnikova, Maria M. [1 ]
Humphries, Casey L. [1 ]
Shinsky, Emily M. [1 ]
机构：
[1] Penn State Univ, Biochem & Mol Biol, University Pk, PA 16802 USA
来源：
EMERGING TOPICS IN LIFE SCIENCES | 2023年 / 7卷 / 03期
关键词：
GAA REPEAT LENGTH; TRIPLET-REPEAT; FRATAXIN GENE; TRANSCRIPTION ELONGATION; EPIGENETIC CHANGES; (GAA)(N) REPEATS; OXIDATIVE STRESS; DNA-REPLICATION; FXN GENE; EXPANSION;
D O I：
10.1042/ETLS20230017
中图分类号：
Q5 [生物化学]; Q7 [分子生物学];
学科分类号：
071010 ; 081704 ;
摘要：
Friedreich ataxia (FRDA) is an inherited disease that is typically caused by GAA repeat expansion within the first intron of the FXN gene coding for frataxin. This results in the frataxin deficiency that affects mostly muscle, nervous, and cardiovascular systems with progressive worsening of the symptoms over the years. This review summarizes recent progress that was achieved in understanding of molecular mechanism of the disease over the last few years and latest treatment strategies focused on overcoming the frataxin deficiency.
引用
收藏
页码：313 / 323
页数：11
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