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Article

A modified mouse model of Friedreich's ataxia with conditional Fxn allele homozygosity delays onset of cardiomyopathy.

American journal of physiology. Heart and circulatory physiology - 1 Feb 2024

Perfitt Tyler L, Huichalaf Claudia, Gooch Renea, Kuperman Anna, Ahn Youngwook, Chen Xian, Ullas Soumya, Hirenallur-Shanthappa Dinesh, Zhan Yutian, Otis Diana, Whiteley Laurence O, Bulawa Christine, Martelli Alain

Abstract excerpt

Friedreich's ataxia (FA) is an autosomal recessive disorder caused by a deficiency in frataxin (FXN), a mitochondrial protein that plays a critical role in the synthesis of iron-sulfur clusters (Fe-S), vital inorganic cofactors necessary for numerous cellular processes. FA is characterized by progressive ataxia and hypertrophic cardiomyopathy, with cardiac dysfunction as the most common cause of mortality in...

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PMID: 38038720
DOI: 10.1152/ajpheart.00496.2023

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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