Results 51 to 60 of about 6,668 (188)

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

Correlations of right ventricular and left ventricular regional systolic long axis velocities with FRDA-specific and cardiac characteristics in FRDA subjects.

, 2018
Correlations of right ventricular and left ventricular regional systolic long axis velocities with FRDA-specific and cardiac characteristics in FRDA subjects.
Louise A. Corben (6166550), Martin B. Delatycki (214513), Roger E. Peverill (3162303), Lesley Donelan (3162294)   +3 more
core   +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

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

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

Epigenetic-based therapies for Friedreich ataxia [PDF]

, 2014
This article has been made available through the Brunel Open Access Publishing Fund.Friedreich ataxia (FRDA) is a lethal autosomal recessive neurodegenerative disorder caused primarily by a homozygous GAA repeat expansion mutation within the first intron
Madhavi Sandi, Al-Mahdawi, S, Sahar eAl-Mahdawi, Chiranjeevi eSandi, Madhavi eSandi, Sara eAnjomani-Virmouni, Sandi, C, Virmouni, SA, Sandi, M, Pook, MA, Mark Adrian Pook, Sahar Al-Mahdawi, Chiranjeevi Sandi, Sara Anjomani Virmouni, Mark A. Pook   +14 more
core   +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

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

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

Replication profile of Frataxin locus in FRDA GM15850 cells

, 2016
Replication profile of Frataxin locus in FRDA GM15850 ...
Martina Stevanoni (2889902), Antonella Russo (521935), Elisa Palumbo (2889905)   +2 more
core   +1 more source