Results 81 to 90 of about 5,449 (210)

Frataxin and the molecular mechanism of mitochondrial iron-loading in Friedreich's ataxia

, 2016
The mitochondrion is a major site for the metabolism of the transition metal, iron, which is necessary for metabolic processes critical for cell vitality. The enigmatic mitochondrial protein, frataxin, is known to play a significant role in both cellular
Sahni, Sumit, Lane, Darius JR, Huang, Michael L-H, Chiang, Shannon, Kovacevic, Zaklina, Richardson, Des R, Merlot, Angelica M, Kalinowski, Danuta S   +7 more
core   +1 more source

Exclusion of CLIC5 as a Candidate Gene and Identification of NEFM as a Possible Novel Gene Correlated With Autosomal Recessive Pure Cerebellar Ataxia in a Highly Consanguineous Family

Molecular Genetics &Genomic Medicine, Volume 14, Issue 4, April 2026.
Whole‐exome sequencing candidate CLIC5 and NEFM for cerebellar ataxia (CA) onset. In vivo studies exclude CLIC5, while in silico analysis and literature review support NEFM as a candidate gene for CA. These findings could be useful for advancing the genetic diagnosis of hereditary pure CA. Created in https://BioRender.com.
Paolo Enrico Maltese, Gabriele Bonetti, Elena Manara, Benedetta Tanzi, Andrea Bernini, Mark A. Berryman, Soichi Tanda, Corinne Nielsen, Silvia Casagrande, Amanda Ferrero, Salvatore Stano, Riccardo Zuccarino, Andrea Barp, Pietro Chiurazzi, Matteo Bertelli   +14 more
wiley   +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

Src inhibitors modulate frataxin protein levels

, 2015
Defective expression of frataxin is responsible for the inherited, progressive degenerative disease Friedreich's Ataxia (FRDA). There is currently no effective approved treatment for FRDA and patients die prematurely. Defective frataxin expression causes
Condò, I, MALISAN, FLORENCE, Fortuni, S, Moiz, S, TESTI, ROBERTO, Crescenzi, M, RUFINI, ALESSANDRA, GUCCINI, ILARIA, SERIO, DARIO, Camerini, S, Testi, R, Serio, D, Rufini, A, ARCURI, GAETANO, Guccini, I, CONDO', IVANO, Arcuri, G, Malisan, F, Cherubini, F   +18 more
core   +1 more source

Cellular, molecular and functional characterisation of YAC transgenic mouse models of Friedreich Ataxia [PDF]

, 2014
Copyright © 2014 Anjomani Virmouni et al. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author ...
Al-Mahdawi, S, Al-Mahdawi Sahar, Anjomani Virmouni Sara, Virmouni, SA, Sandi, C, Chiranjeevi S, Pook, MA, Sahar Al-Mahdawi, Chiranjeevi Sandi, Sandi Chiranjeevi, Chiranjeevi Sandi (283956), Sara Anjomani Virmouni, Mark A. Pook (126056), Pook Mark A., Mark A. Pook, Sara Anjomani Virmouni (627000), Mark A Pook, Sahar Al-Mahdawi (126054)   +17 more
core   +1 more source

When R‐Loops Go Awry: Genome Instability and Neurological Diseases

European Journal of Neuroscience, Volume 63, Issue 8, April 2026.
DNA normally exists as a double helix formed by two complementary strands. During gene transcription, however, one strand of DNA can bind to RNA, causing the other DNA strand to be displaced. This creates a structure called an R‐loop. R‐loops play important roles in normal cellular processes such as gene expression, DNA replication, and transcription ...
Nur Rasyiqin Rasli, Yu Katsuyama
wiley   +1 more source

Coexistence of Friedreich's Ataxia and Esophageal Cancer: A Case Report

Clinical Case Reports, Volume 14, Issue 3, March 2026.
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.
Alireza Mehrban, Abdolreza Babamahmoodi, Mohammad Taghi Hamidian, Bahar Amiri, Parand Ramzani, Mehdi Karimi   +5 more
wiley   +1 more source

Turning Saccharomyces cerevisiae into a Frataxin-Independent Organism.

PLoS Genetics, 2015
Frataxin (Yfh1 in yeast) is a conserved protein and deficiency leads to the neurodegenerative disease Friedreich's ataxia. Frataxin is a critical protein for Fe-S cluster assembly in mitochondria, interacting with other components of the Fe-S cluster ...
Heeyong Yoon, Simon A B Knight, Alok Pandey, Jayashree Pain, Serdar Turkarslan, Debkumar Pain, Andrew Dancis   +6 more
doaj   +1 more source

Nerve Ultrasound in Patients With Friedreich Ataxia

Muscle &Nerve, Volume 73, Issue 3, Page 395-402, March 2026.
ABSTRACT Introduction/Aims Nerve enlargement has been reported in patients with Friedreich ataxia (FRDA). The underlying cause remains unclear, and both inflammatory processes and dysmyelination have been suggested as potential mechanisms. This study was aimed at assessing nerve morphology with high‐resolution ultrasound, to identify and describe ...
Katharina Kneer, Jan‐Hendrik Stahl, Natalie Winter, Julia Wittlinger, Stephanie Männlin, Toghrul Gasimli, Ludger Schöls, Zofia Fleszar, Stefanie Hayer, Alexander Grimm   +9 more
wiley   +1 more source

Delivery of the 135 kb human frataxin genomic DNA locus gives rise to different frataxin isoforms

Genomics, 2015
Friedreich's ataxia (FRDA) is the most common form of hereditary ataxia caused by recessive mutations in the FXN gene. Recent results have indicated the presence of different frataxin isoforms due to alternative gene expression mechanisms. Our previous studies demonstrated the advantages of using high-capacity herpes simplex virus type 1 (HSV-1 ...
Pérez-Luz, S., Giménez-Cassina, Alfredo, Fernández-Frias, I., Wade-Martins, R., Díaz-Nido, Javier   +4 more
openaire   +3 more sources