Results 11 to 20 of about 3,918 (176)
Frontiers in Neuroscience, 2022 Friedreich’s ataxia (FRDA) is an autosomal recessive disease caused by an intronic guanine-adenine-adenine (GAA) triplet expansion in the frataxin (FXN) gene, which leads to reduced expression of full-length frataxin (1–210) also known as isoform 1. Full-
Qingqing Wang +17 more
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Exploring frataxin function [PDF]
IUBMB Life, 2011 AbstractFrataxin is a nuclear‐encoded mitochondrial protein highly conserved in prokaryotes and eukaryotes. Its deficiency was initially described as the phenotype of Friedreich's ataxia, an autosomal recessive disease in humans. Although several functions have been described for frataxin, that is, involvement in Fe‐S cluster and heme synthesis, energy
Busi, María Victoria +1 more
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Cell Death and Disease, 2023 Friedreich ataxia (FRDA) is a rare, inherited neurodegenerative disease caused by an expanded GAA repeat in the first intron of the FXN gene, leading to transcriptional silencing and reduced expression of frataxin.
Davide Doni +17 more
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Cerebellar Pathology in an Inducible Mouse Model of Friedreich Ataxia
Frontiers in Neuroscience, 2022 Friedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disorder caused by deficiency of the mitochondrial protein frataxin. Lack of frataxin causes neuronal loss in various areas of the CNS and PNS.
Elizabeth Mercado-Ayón +12 more
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Plant Frataxin in Metal Metabolism [PDF]
Frontiers in Plant Science, 2018 La frataxina es una proteína altamente conservada de procariotas a eucariotas. Se han postulado varias funciones relacionadas con el metabolismo del hierro para esta proteína, incluyendo el grupo Fe-S y la síntesis de hemo, la respuesta al daño oxidativo y la fosforilación oxidativa.
Diego F. Gomez‐Casati +2 more
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Neurobiology of Disease, 2021 Friedreich ataxia (FRDA), the most common autosomal recessive ataxia, is characterized by degeneration of the large sensory neurons and spinocerebellar tracts, cardiomyopathy, and increased incidence in diabetes.
Laura Rodríguez-Pascau +13 more
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Ferrochelatase activity of plant frataxin [PDF]
Biochimie, 2019 Frataxin plays a key role in cellular iron homeostasis of different organisms. It is engaged in several activities at the FeS cluster assembly machinery and it is also involved in heme biosynthesis. In plants, two genes encoding ferrochelatases (FC1 and FC2) catalyze the incorporation of iron into protoporphyrin IX in the last stage of heme synthesis ...
Alejandro M. Armas +5 more
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Crystal Structure of Human Frataxin [PDF]
Journal of Biological Chemistry, 2000 Friedreich's ataxia, an autosomal recessive neurodegenerative disorder characterized by progressive gait and limb ataxia, cardiomyopathy, and diabetes mellitus, is caused by decreased frataxin production or function. The structure of human frataxin, which we have determined at 1.8-A resolution, reveals a novel protein fold.
S, Dhe-Paganon +4 more
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Neurobiology of Disease, 2015 Friedreich ataxia is an inherited neurodegenerative disease that leads to progressive disability. There is currently no effective treatment and patients die prematurely.
Alessandra Rufini +12 more
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In vivo maturation of human frataxin [PDF]
Human Molecular Genetics, 2007 The defective expression of frataxin causes the hereditary neurodegenerative disorder Friedreich's ataxia (FRDA). Human frataxin is synthesized as a 210 amino acid precursor protein, which needs proteolytic processing into mitochondria to be converted into the functional mature form.
CONDO', IVANO +5 more
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