Friedreich's ataxia: new insights-Reference-Cited by-同舟云学术

Friedreich's ataxia: new insights

Published:2023-09-12 Issue:3 Volume:7 Page:313-323
ISSN:2397-8554
Container-title:Emerging Topics in Life Sciences
language:en
Short-container-title:

Author:

Krasilnikova Maria M.¹^ORCID,Humphries Casey L.¹,Shinsky Emily M.¹

Affiliation:

1. Biochemistry and Molecular Biology, The Pennsylvania State University, University Park, Pennsylvania, U.S.A.

Abstract

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.

Publisher

Portland Press Ltd.

Subject

General Agricultural and Biological Sciences,General Biochemistry, Genetics and Molecular Biology

Link

https://portlandpress.com/emergtoplifesci/article-pdf/7/3/313/952500/etls-2023-0017c.pdf

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