Mitochondrial impairment of human muscle in Friedreich ataxia in vivo
Author:
Publisher
Elsevier BV
Subject
Genetics(clinical),Clinical Neurology,Neurology,Pediatrics, Perinatology, and Child Health
Reference15 articles.
1. Frataxin is reduced in Friedreich's ataxia patients and is associated with mitochondrial membranes;Campuzano;Hum Mol Genet,1997
2. Friedreich's ataxia: Autosomal recessive disease caused by an intronic GAA triplet repeat expansion;Campuzano;Science,1996
3. Frataxin shows developmentally regulated tissue-specific expression in the mouse embryo;Jiralerspong;Neurobiol Dis,1997
4. Studies of human, mouse and yeast homologues indicate a mitochondrial function for frataxin;Koutnikova;Nat Genet,1997
5. Regulation of mitochondrial iron accumulation by Yfh 1p, a putative homolog of frataxin;Babcock;Science,1997
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1. Mitochondrial impairment, decreased sirtuin activity and protein acetylation in dorsal root ganglia in Friedreich Ataxia models;Cellular and Molecular Life Sciences;2023-12-21
2. Skeletal muscle proteome analysis underpins multifaceted mitochondrial dysfunction in Friedreich’s ataxia;Frontiers in Neuroscience;2023-10-31
3. Deficient mitochondrial respiration impairs sirtuin activity in dorsal root ganglia in Friedreich Ataxia mouse and cell models;2023-02-03
4. Double blind trial of a deuterated form of linoleic acid (RT001) in Friedreich ataxia;Journal of Neurology;2022-12-03
5. Frataxin controls ketone body metabolism through regulation of OXCT1;PNAS Nexus;2022-07-01
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