Results 31 to 40 of about 3,918 (176)

Frataxin-deficient cardiomyocytes present an altered thiol-redox state which targets actin and pyruvate dehydrogenase

Redox Biology, 2020
Friedreich ataxia (FA) is a cardioneurodegenerative disease caused by deficient frataxin expression. This mitochondrial protein has been related to iron homeostasis, energy metabolism, and oxidative stress.
Rosa Purroy, Marta Medina-Carbonero, Joaquim Ros, Jordi Tamarit   +3 more
doaj   +1 more source

Partial conservation of functions between eukaryotic frataxin and theEscherichia colifrataxin homolog CyaY [PDF]

FEMS Yeast Research, 2007
Frataxin is a mitochondrial protein structurally conserved from bacteria to humans. Eukaryotic frataxins are known to be involved in the maintenance of mitochondrial iron balance via roles in iron delivery and iron detoxification. The prokaryotic frataxin homolog, CyaY, has been shown to bind and donate iron for the assembly of [2Fe-2S] clusters in ...
Tibor, Bedekovics, Gabriella B, Gajdos, Gyula, Kispal, Grazia, Isaya   +3 more
openaire   +2 more sources

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

Molecular Therapy: Methods & Clinical Development, 2022
Friedreich's ataxia is a rare disorder resulting from deficiency of frataxin, a mitochondrial protein implicated in the synthesis of iron-sulfur clusters.
Claudia Huichalaf, Tyler L. Perfitt, Anna Kuperman, Renea Gooch, Ramesh C. Kovi, Karrie A. Brenneman, Xian Chen, Dinesh Hirenallur-Shanthappa, Tiffany Ma, Basel T. Assaf, Ingrid Pardo, Tania Franks, Laura Monarski, Ting-Wen Cheng, Kevin Le, Chunyan Su, Suryanarayan Somanathan, Laurence O. Whiteley, Christine Bulawa, Marko J. Pregel, Alain Martelli   +20 more
doaj   +1 more source

Posttranslational regulation of mitochondrial frataxin and identification of compounds that increase frataxin levels in Friedreich’s ataxia

Journal of Biological Chemistry, 2022
Friedreich's ataxia (FRDA) is a degenerative disease caused by a decrease in the mitochondrial protein frataxin (Fxn), which is involved in iron-sulfur cluster (ISC) synthesis. Diminutions in Fxn result in decreased ISC synthesis, increased mitochondrial iron accumulation, and impaired mitochondrial function.
Hackett, Peter T., Jia, Xuan, Li, Liangtao, Ward, Diane M.   +3 more
openaire   +2 more sources

The mitochondrial protein frataxin prevents nuclear damage [PDF]

Human Molecular Genetics, 2002
The mitochondrial protein frataxin helps maintain appropriate iron levels in the mitochondria of yeast and humans. A deficiency of this protein in humans causes Friedreich's ataxia, while its complete absence in yeast (Delta yfh1 mutant) results in loss of mitochondrial DNA, apparently due to radicals generated by excess iron. We found that the absence
Gopalakrishnan, Karthikeyan, L Kevin, Lewis, Michael A, Resnick   +2 more
openaire   +2 more sources

A peptide derived from TID1S rescues frataxin deficiency and mitochondrial defects in FRDA cellular models

Frontiers in Pharmacology
Friedreich’s ataxia (FRDA), the most common recessive inherited ataxia, results from homozygous guanine–adenine–adenine (GAA) repeat expansions in intron 1 of the FXN gene, which leads to the deficiency of frataxin, a mitochondrial protein essential for ...
Yi Na Dong, Yi Na Dong, Lucie Vanessa Ngaba, Jacob An, Miniat W. Adeshina, Nathan Warren, Johnathan Wong, David R. Lynch, David R. Lynch   +8 more
doaj   +1 more source

Clinical data and characterization of the liver conditional mouse model exclude neoplasia as a non-neurological manifestation associated with Friedreich’s ataxia

Disease Models & Mechanisms, 2012
SUMMARY Friedreich’s ataxia (FRDA) is the most common hereditary ataxia in the caucasian population and is characterized by a mixed spinocerebellar and sensory ataxia, hypertrophic cardiomyopathy and increased incidence of diabetes.
Alain Martelli, Lisa S. Friedman, Laurence Reutenauer, Nadia Messaddeq, Susan L. Perlman, David R. Lynch, Kathrin Fedosov, Jörg B. Schulz, Massimo Pandolfo, Hélène Puccio   +9 more
doaj   +1 more source

Frataxin deficiency alters gene expression in Friedreich ataxia derived IPSC‐neurons and cardiomyocytes

Molecular Genetics & Genomic Medicine, 2023
Background Friedreich's ataxia (FRDA) is an autosomal recessive disease, whereby homozygous inheritance of an expanded GAA trinucleotide repeat expansion in the first intron of the FXN gene leads to transcriptional repression of the encoded protein ...
Mariana B. Angulo, Alexander Bertalovitz, Mariana A. Argenziano, Jiajia Yang, Aarti Patel, Theresa Zesiewicz, Thomas V. McDonald   +6 more
doaj   +1 more source

Mitochondrial dysfunction induced by frataxin deficiency is associated with cellular senescence and abnormal calcium metabolism

Frontiers in Cellular Neuroscience, 2014
Friedreich ataxia is considered a neurodegenerative disorder involving both the peripheral and central nervous systems. Dorsal root ganglia (DRG) are the major target tissue structures.
Arantxa eBolinches-Amorós, Arantxa eBolinches-Amorós, Arantxa eBolinches-Amorós, Belén eMollá, Belén eMollá, Belén eMollá, David ePla-Martín, David ePla-Martín, David ePla-Martín, Francesc ePalau, Francesc ePalau, Francesc ePalau, Francesc ePalau, Pilar eGonzalez-Cabo, Pilar eGonzalez-Cabo, Pilar eGonzalez-Cabo   +15 more
doaj   +1 more source

Human frataxin: iron and ferrochelatase binding surface [PDF]

Chem. Commun., 2007
The coordinated iron structure and ferrochelatase binding surface of human frataxin have been characterized to provide insight into the protein's ability to serve as the iron chaperone during heme biosynthesis.
Krisztina Z, Bencze, Taejin, Yoon, César, Millán-Pacheco, Patrick B, Bradley, Nina, Pastor, J A, Cowan, Timothy L, Stemmler   +6 more
openaire   +2 more sources