Results 41 to 50 of about 5,660 (167)

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

CRISPR-Cas9 Gene Editing of Hematopoietic Stem Cells from Patients with Friedreich’s Ataxia

Molecular Therapy: Methods & Clinical Development, 2020
Friedreich’s ataxia (FRDA) is an autosomal recessive neurodegenerative disorder caused by expansion of GAA repeats in intron 1 of the frataxin (FXN) gene, leading to significant decreased expression of frataxin, a mitochondrial iron-binding protein.
Celine J. Rocca, Joseph N. Rainaldi, Jay Sharma, Yanmeng Shi, Joseph H. Haquang, Jens Luebeck, Prashant Mali, Stephanie Cherqui   +7 more
doaj   +1 more source

Multimodal Magnetic Resonance Imaging and Machine Learning Uncovers Distinct Progression Patterns in Friedreich Ataxia

Movement Disorders, EarlyView.
Abstract Background Friedreich ataxia (FRDA) is a rare neurodegenerative disorder with heterogenous clinical progression, complicating prognosis and trial design. Neuroimaging offers objective biomarkers of disease progression, yet variability in progression patterns remains poorly understood.
Susmita Saha, Nellie Georgiou‐Karistianis, Vivienne Teo, Louise A. Corben, David J. Szmulewicz, Lachlan T. Strike, Marcondes C. França Jr., Thiago J.R. Rezende, Ian H. Harding   +8 more
wiley   +1 more source

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

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

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

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

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

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

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