Results 41 to 50 of about 5,555 (166)

Bioenergetics of the calf muscle in Friedreich ataxia patients measured by 31P-MRS before and after treatment with recombinant human erythropoietin.

PLoS ONE, 2013
UnlabelledFriedreich ataxia (FRDA) is caused by a GAA repeat expansion in the FXN gene leading to reduced expression of the mitochondrial protein frataxin.
Wolfgang Nachbauer, Sylvia Boesch, Rainer Schneider, Andreas Eigentler, Julia Wanschitz, Werner Poewe, Michael Schocke   +6 more
doaj   +1 more source

A Metagenome‐Assembled Genome Catalog From the Global Ruminant Microbiomes

Animal Research and One Health, EarlyView.
The Ruminant Gastrointestinal MAG Catalog (RGMC) is a comprehensive global resource offering 40,812 strain‐level genomes across 53 bacterial and 4 archaeal classes. It greatly surpasses prior efforts in scale and diversity, serving as an essential foundation for research in ruminant nutrition, microbial function, and methane mitigation.
Shizhe Zhang, Qiushuang Li, Bingzi Ouyang, Wenxing Wang, Xiang Zhou, Xiumin Zhang, Rong Wang, Zhiliang Tan, Min Wang   +8 more
wiley   +1 more source

An Overview of the Ferroptosis Hallmarks in Friedreich’s Ataxia

Biomolecules, 2020
Background: Friedreich’s ataxia (FRDA) is a neurodegenerative disease characterized by early mortality due to hypertrophic cardiomyopathy. FRDA is caused by reduced levels of frataxin (FXN), a mitochondrial protein involved in the synthesis of iron ...
Riccardo Turchi, Raffaella Faraonio, Daniele Lettieri-Barbato, Katia Aquilano   +3 more
doaj   +1 more source

Disarrangement of Endoplasmic reticulum-mitochondria communication impairs Ca ²⁺ homeostasis in FRDA [PDF]

, 2020
Abstract Friedreich ataxia (FRDA) is a neurodegenerative disorder characterized by neuromuscular and neurological manifestations. It is caused by mutations in gene FXN, which results in loss of the mitochondrial protein frataxin. Endoplasmic Reticulum-mitochondria associated membranes (MAMs) are inter-organelle structures involved in ...
Rodríguez, Laura R., Calap-Quintana, Pablo, Lapeña-Luzón, Tamara, Pallardó, Federico V., Schneuwly, Stephan, Navarro, Juan A., Gonzalez-Cabo, Pilar   +6 more
openaire   +1 more source

Directional information flow in human frataxin defines allosteric pathways connecting the hydrophobic core to the iron‐binding ridge

The FEBS Journal, EarlyView.
Human frataxin deficiency causes Friedreich's ataxia, yet how iron‐binding events are communicated across the protein is unclear. Using transfer entropy analysis of molecular dynamics simulations, we identify buried hydrophobic core leucines (LEU136, LEU140) as the source of directional signaling toward the iron‐binding acidic ridge.
Kevser Kübra Kırboğa, Ecir Uğur Küçüksille   +1 more
wiley   +1 more source

Generation and characterisation of Friedreich ataxia YG8R mouse fibroblast and neural stem cell models.

PLoS ONE, 2014
BackgroundFriedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disease caused by GAA repeat expansion in the first intron of the FXN gene, which encodes frataxin, an essential mitochondrial protein.
Chiranjeevi Sandi, Madhavi Sandi, Harvinder Jassal, Vahid Ezzatizadeh, Sara Anjomani-Virmouni, Sahar Al-Mahdawi, Mark A Pook   +6 more
doaj   +1 more source

Mesenchymal Stem Cell‐Based Therapy for Cerebellar Ataxia: From Bench to Bedside

CNS Neuroscience &Therapeutics, Volume 32, Issue 7, July 2026.
Allogeneic hMSCs transplanted across LPS, Ara‐C, and SCA2 cerebellar ataxia (CA) models suppress neuroinflammation and restore the neurotrophin axis, collectively preserving Purkinje cell integrity. These preclinical findings are being translated clinically, from a first‐in‐human case report to an ongoing Phase II/III randomized trial (NCT02540655 ...
Kyoungho Suk, Ho‐Won Lee, Sang Ryong Kim   +2 more
wiley   +1 more source

Human frataxin, the Friedreich ataxia deficient protein, interacts with mitochondrial respiratory chain

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, Federica Cavion, Marco Bortolus, Elisa Baschiera, Silvia Muccioli, Giulia Tombesi, Federica d’Ettorre, Daniele Ottaviani, Elena Marchesan, Luigi Leanza, Elisa Greggio, Elena Ziviani, Antonella Russo, Milena Bellin, Geppo Sartori, Donatella Carbonera, Leonardo Salviati, Paola Costantini   +17 more
doaj   +1 more source

Genetic admixture of European FRDA genes is the cause of Friedreich ataxia in the Mexican population

Genomics, 2004
Friedreich ataxia accounts for approximately 75% of European recessive ataxia patients. Approximately 98% of pathogenic chromosomes have large expansions of a GAA triplet repeat in the FRDA gene (E alleles), and strong linkage disequilibrium among polymorphisms spanning the FRDA locus indicates a common origin for all European E alleles.
Mariluz, Gómez, Rhonda M, Clark, Swapan K, Nath, Saeeda, Bhatti, Rajesh, Sharma, Elisa, Alonso, Astrid, Rasmussen, Sanjay I, Bidichandani   +7 more
openaire   +2 more sources

A non-synonymous single nucleotide polymorphism in SIRT6 predicts neurological severity in Friedreich ataxia

Frontiers in Molecular Biosciences, 2022
Introduction: Friedreich ataxia (FRDA) is a recessive neurodegenerative disease characterized by progressive ataxia, dyscoordination, and loss of vision.
Layne N. Rodden, Christian Rummey, Yi Na Dong, Sarah Lagedrost, Sean Regner, Alicia Brocht, Khalaf Bushara, Martin B. Delatycki, Christopher M. Gomez, Katherine Mathews, Sarah Murray, Susan Perlman, Bernard Ravina, S. H. Subramony, George Wilmot, Theresa Zesiewicz, Alessandra Bolotta, Alain Domissy, Christine Jespersen, Baohu Ji, Elisabetta Soragni, Joel M. Gottesfeld, David R. Lynch   +22 more
doaj   +1 more source