Results 31 to 40 of about 6,668 (188)

Comprehensive analysis of gene expression patterns in Friedreich's ataxia fibroblasts by RNA sequencing reveals altered levels of protein synthesis factors and solute carriers

Disease Models & Mechanisms, 2017
Friedreich's ataxia (FRDA) is an autosomal recessive neurodegenerative disease usually caused by large homozygous expansions of GAA repeat sequences in intron 1 of the frataxin (FXN) gene. FRDA patients homozygous for GAA expansions have low FXN mRNA and
Jill Sergesketter Napierala, Yanjie Li, Yue Lu, Kevin Lin, Lauren A. Hauser, David R. Lynch, Marek Napierala   +6 more
doaj   +1 more source

Skin fibroblast metabolomic profiling reveals that lipid dysfunction predicts the severity of Friedreich’s ataxia

Journal of Lipid Research, 2022
Friedreich’s ataxia (FRDA) is an autosomal recessive neurodegenerative disorder caused by a triplet guanine-adenine-adenine (GAA) repeat expansion in intron 1 of the FXN gene, which leads to decreased levels of the frataxin protein.
Dezhen Wang, Elaine S. Ho, M. Grazia Cotticelli, Peining Xu, Jill S. Napierala, Lauren A. Hauser, Marek Napierala, Blanca E. Himes, Robert B. Wilson, David R. Lynch, Clementina Mesaros   +10 more
doaj   +1 more source

Skeletal muscle proteome analysis underpins multifaceted mitochondrial dysfunction in Friedreich’s ataxia

Frontiers in Neuroscience, 2023
Friedreich’s ataxia (FRDA) is a severe multisystemic disorder caused by a deficiency of the mitochondrial protein frataxin. While some aspects of FRDA pathology are developmental, the causes underlying the steady progression are unclear.
Elisabetta Indelicato, Klaus Faserl, Matthias Amprosi, Wolfgang Nachbauer, Rainer Schneider, Julia Wanschitz, Bettina Sarg, Sylvia Boesch   +7 more
doaj   +1 more source

Excision of the expanded GAA repeats corrects cardiomyopathy phenotypes of iPSC-derived Friedreich's ataxia cardiomyocytes

Stem Cell Research, 2019
Friedreich's ataxia is caused by large homozygous, intronic expansions of GAA repeats in the frataxin (FXN) gene, resulting in severe downregulation of its expression.
Jixue Li, Natalia Rozwadowska, Amanda Clark, Daniel Fil, Jill S. Napierala, Marek Napierala   +5 more
doaj   +1 more source

Intrafamilial Phenotypic Variability in Friedreich Ataxia Associated With a G130V Mutation in the FRDA Gene [PDF]

Archives of Neurology, 2002
Most patients with Friedreich ataxia (FA) have a GAA trinucleotide repeat expansion in intron 1 of the FA gene (FRDA) on both arms of chromosome 9. However, some patients are compound heterozygotes and harbor a GAA expansion on one allele and a point mutation on the other.
McCabe, Dominick, Wood, Nicholas, Ryan, Fergus, Hanna, Michael, Connolly, Sean, Moore, David, Redmond, Janice, Barton, David, Murphy, Raymond   +8 more
openaire   +4 more sources

Pharmacological screening using an FXN-EGFP cellular genomic reporter assay for the therapy of Friedreich ataxia [PDF]

, 2013
Copyright @ 2013 Li 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 and source are ...
Martin B Delatycki, Voullaire, L, Lucille Voullaire, Li, L, Ioannou Panos A., Sarsero, JP, Voullaire Lucille, Li Lingli, Joseph P Sarsero, Sandi, C, Pook, MA, Delatycki, MB, Chiranjeevi Sandi, Sandi Chiranjeevi, Lingli Li, Delatycki Martin B., Pook Mark A., Panos A Ioannou, Ioannou, PA, Sarsero Joseph P., Mark A Pook   +20 more
core   +1 more source

Stalled DNA Replication Forks at the Endogenous GAA Repeats Drive Repeat Expansion in Friedreich’s Ataxia Cells

Cell Reports, 2016
Friedreich’s ataxia (FRDA) is caused by the expansion of GAA repeats located in the Frataxin (FXN) gene. The GAA repeats continue to expand in FRDA patients, aggravating symptoms and contributing to disease progression.
Jeannine Gerhardt, Angela D. Bhalla, Jill Sergesketter Butler, James W. Puckett, Peter B. Dervan, Zev Rosenwaks, Marek Napierala   +6 more
doaj   +1 more source

A new FRDA mouse model [Fxnnull:YG8s(GAA) > 800] with more than 800 GAA repeats [PDF]

, 2023
Data availability statement: The raw data supporting the conclusions of this article will be made available by the authors, without undue reservation.Supplementary material: The Supplementary Material for this article can be found online at: https://www ...
Pook, MA, Anjomani Virmouni, S, Oggianu, C, Edzeamey, FJ, Al-Mahdawi, S, Kalef-Ezra, E, Kleine, P, Valle, A, Khonsari, H   +8 more
core   +1 more source

Molecular Defects in Friedreich’s Ataxia: Convergence of Oxidative Stress and Cytoskeletal Abnormalities

Frontiers in Molecular Biosciences, 2020
Friedreich’s ataxia (FRDA) is a multi-faceted disease characterized by progressive sensory–motor loss, neurodegeneration, brain iron accumulation, and eventual death by hypertrophic cardiomyopathy.
Frances M. Smith, Daniel J. Kosman
doaj   +1 more source

Patient-derived iPSC models of Friedreich ataxia: a new frontier for understanding disease mechanisms and therapeutic application

Translational Neurodegeneration, 2023
Friedreich ataxia (FRDA) is a rare genetic multisystem disorder caused by a pathological GAA trinucleotide repeat expansion in the FXN gene. The numerous drawbacks of historical cellular and rodent models of FRDA have caused difficulty in performing ...
Saumya Maheshwari, Gabriela Vilema-Enríquez, Richard Wade-Martins   +2 more
doaj   +1 more source