Friedreich ataxia: clinical features and new developments

M Keita, K McIntyre, LN Rodden, K Schadt… - Neurodegenerative …, 2022 - Taylor & Francis
Friedreich's ataxia (FRDA), a neurodegenerative disease characterized by ataxia and other
neurological features, affects 1 in 50,000–100,000 individuals in the USA. However, FRDA …

Omaveloxolone: an activator of Nrf2 for the treatment of Friedreich ataxia

V Profeta, K McIntyre, MK Wells, C Park… - Expert opinion on …, 2023 - Taylor & Francis
Introduction Friedreich ataxia (FRDA) is a rare autosomal recessive degenerative disorder
characterized by ataxia, dysarthria, diabetes, cardiomyopathy, scoliosis, and occasionally …

In vivo overexpression of frataxin causes toxicity mediated by iron-sulfur cluster deficiency

C Huichalaf, TL Perfitt, A Kuperman, R Gooch… - … Therapy-Methods & …, 2022 - cell.com
Friedreich's ataxia is a rare disorder resulting from deficiency of frataxin, a mitochondrial
protein implicated in the synthesis of iron-sulfur clusters. Preclinical studies in mice have …

Outlining the complex pathway of mammalian Fe-S cluster biogenesis

N Maio, TA Rouault - Trends in biochemical sciences, 2020 - cell.com
Iron–sulfur (Fe-S) clusters (ISCs) are ubiquitous cofactors essential to numerous
fundamental cellular processes. Assembly of ISCs and their insertion into apoproteins …

High levels of frataxin overexpression lead to mitochondrial and cardiac toxicity in mouse models

B Belbellaa, L Reutenauer, N Messaddeq… - … Therapy-Methods & …, 2020 - cell.com
Friedreich ataxia (FA) is currently an incurable inherited mitochondrial disease caused by
reduced levels of frataxin (FXN). Cardiac dysfunction is the main cause of premature death …

Emerging therapies in hereditary ataxias

MLS Eisel, M Burns, T Ashizawa, B Byrne… - Trends in Molecular …, 2024 - cell.com
Recent investigations have defined the pathophysiological basis of many hereditary ataxias
(HAs), including loss-of-function as well as gain-of-function mechanisms at either the RNA or …

Triad role of hepcidin, ferroportin, and Nrf2 in cardiac iron metabolism: From health to disease

D Jayakumar, KKS Narasimhan… - Journal of Trace Elements …, 2022 - Elsevier
Iron is an essential trace element required for several vital physiological and developmental
processes, including erythropoiesis, bone, and neuronal development. Iron metabolism and …

[HTML][HTML] Molecular mechanisms and therapeutics for the GAA· TTC expansion disease Friedreich ataxia

JM Gottesfeld - Neurotherapeutics, 2019 - Elsevier
Friedreich ataxia (FRDA), the most common inherited ataxia, is caused by transcriptional
silencing of the nuclear FXN gene, encoding the essential mitochondrial protein frataxin …

[HTML][HTML] A multiple animal and cellular models approach to study frataxin deficiency in Friedreich Ataxia

V Mosbach, H Puccio - Biochimica et Biophysica Acta (BBA)-Molecular Cell …, 2024 - Elsevier
Friedreich's ataxia (FA) is one of the most frequent inherited recessive ataxias characterized
by a progressive sensory and spinocerebellar ataxia. The main causative mutation is a GAA …

Continuous, but not intermittent, regimens of hypoxia prevent and reverse ataxia in a murine model of Friedreich's ataxia

T Ast, H Wang, E Marutani, F Nagashima… - Human Molecular …, 2023 - academic.oup.com
Friedreich's ataxia (FA) is a devastating, multi-systemic neurodegenerative disease affecting
thousands of people worldwide. We previously reported that oxygen is a key environmental …