Results 41 to 50 of about 10,061 (229)

Highly specific ubiquitin-competing molecules effectively promote frataxin accumulation and partially rescue the aconitase defect in Friedreich ataxia cells

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, Francesca Cavallo, Ivano Condò, Silvia Fortuni, Gabriella De Martino, Ottaviano Incani, Almerinda Di Venere, Monica Benini, Damiano Sergio Massaro, Gaetano Arcuri, Dario Serio, Florence Malisan, Roberto Testi   +12 more
doaj   +1 more source

Frataxin deficiency promotes endothelial senescence in pulmonary hypertension.

Journal of Clinical Investigation, 2021
The dynamic regulation of endothelial pathophenotypes in pulmonary hypertension (PH) remains undefined. Cellular senescence is linked to PH with intracardiac shunts; however, its regulation across PH subtypes is unknown.
M. Culley, Jingsi Zhao, Y. Tai, Ying Tang, D. Perk, V. Negi, Qiujun Yu, Chen-Shan C. Woodcock, A. Handen, G. Speyer, Seungchan Kim, Y. Lai, T. Satoh, Annie M Watson, Yassmin Al Aaraj, J. Sembrat, M. Rojas, D. Goncharov, E. Goncharova, Omar F. Khan, Daniel G. Anderson, J. Dahlman, Aditi U. Gurkar, R. Lafyatis, A. Fayyaz, M. Redfield, M. Gladwin, M. Rabinovitch, Mingxia Gu, T. Bertero, S. Y. Chan   +30 more
semanticscholar   +1 more source

Coexistence of Friedreich's Ataxia and Esophageal Cancer: A Case Report. [PDF]

Clin Case Rep
ABSTRACT Friedreich's ataxia (FA) is a rare autosomal recessive neurodegenerative disorder. Although FA is frequently associated with cardiomyopathy and diabetes mellitus, its coexistence with solid malignancies is exceptionally rare. To date, only a limited number of gastrointestinal cancers have been reported in patients with FA.
Mehrban A, Babamahmoodi A, Hamidian MT, Amiri B, Ramzani P, Karimi M.   +5 more
europepmc   +2 more sources

During FeS cluster biogenesis, ferredoxin and frataxin use overlapping binding sites on yeast cysteine desulfurase Nfs1

Journal of Biological Chemistry, 2022
In mitochondria, cysteine desulfurase (Nfs1) plays a central role in the biosynthesis of iron–sulfur (FeS) clusters, cofactors critical for activity of many cellular proteins.
Marta A. Uzarska, Igor Grochowina, Joanna Soldek, Marcin Jelen, B. Schilke, J. Marszałek, E. Craig, R. Dutkiewicz   +7 more
semanticscholar   +1 more source

Human Frataxin Folds Via an Intermediate State. Role of the C-Terminal Region [PDF]

, 2016
The aim of this study is to investigate the folding reaction of human frataxin, whose deficiency causes the neurodegenerative disease Friedreich’s Ataxia (FRDA).
Faraj, Santiago Enrique, Gonzalez-Lebrero, Rodolfo Martin, Roman, Ernesto Andres, Santos, Javier   +3 more
core   +1 more source

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, Ventura, N, MALISAN, FLORENCE, RUFINI, ALESSANDRA, Tomassini, B, TESTI, ROBERTO   +5 more
openaire   +4 more sources

E3 Ligase RNF126 Directly Ubiquitinates Frataxin, Promoting Its Degradation: Identification of a Potential Therapeutic Target for Friedreich Ataxia

Cell Reports, 2017
Friedreich ataxia (FRDA) is a severe genetic neurodegenerative disease caused by reduced expression of the mitochondrial protein frataxin. To date, there is no therapy to treat this condition.
Monica Benini, Silvia Fortuni, Ivano Condò, Giulia Alfedi, Florence Malisan, Nicola Toschi, Dario Serio, Damiano Sergio Massaro, Gaetano Arcuri, Roberto Testi, Alessandra Rufini   +10 more
doaj   +1 more source

The Ferroxidase Activity of Yeast Frataxin [PDF]

Journal of Biological Chemistry, 2002
Frataxin is required for maintenance of normal mitochondrial iron levels and respiration. The mature form of yeast frataxin (mYfh1p) assembles stepwise into a multimer of 840 kDa (alpha(48)) that accumulates iron in a water-soluble form. Here, two distinct iron oxidation reactions are shown to take place during the initial assembly step (alpha ...
Sungjo, Park, Oleksandr, Gakh, Steven M, Mooney, Grazia, Isaya   +3 more
openaire   +2 more sources

Development of frataxin gene expression measures for the evaluation of experimental treatments in Friedreich's ataxia.

PLoS ONE, 2013
BackgroundFriedreich ataxia is a progressive neurodegenerative disorder caused by GAA triplet repeat expansions or point mutations in the FXN gene and, ultimately, a deficiency in the levels of functional frataxin protein.
Heather L Plasterer, Eric C Deutsch, Matthew Belmonte, Elizabeth Egan, David R Lynch, James R Rusche   +5 more
doaj   +1 more source

Mice harboring the FXN I151F pathological point mutation present decreased frataxin levels, a Friedreich ataxia-like phenotype, and mitochondrial alterations

Cellular and Molecular Life Sciences, 2022
Friedreich Ataxia (FA) is a rare neuro-cardiodegenerative disease caused by mutations in the frataxin (FXN) gene. The most prevalent mutation is a GAA expansion in the first intron of the gene causing decreased frataxin expression.
M. Medina-Carbonero, A. Sanz-Alcázar, E. Britti, F. Delaspre, E. Cabiscol, J. Ros, J. Tamarit   +6 more
semanticscholar   +1 more source