Results 21 to 30 of about 5,555 (166)

Genetics of Friedreich Ataxia

Pediatric Neurology Briefs, 1997
Genotype-phenotype correlations in a group of 100 patients with typical Friedreich ataxia (FRDA), and in three smaller clinically atypical groups (Arcadian FRDA, late-onset FRDA (LOFA), and FRDA with retained reflexes (FARR)), were studied at the Centre ...
J Gordon Millichap
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Friedreich’s Ataxia: A Neuronal Point of View on the Oxidative Stress Hypothesis

Antioxidants, 2014
A prominent feature of Friedreich’s ataxia (FRDA) is the neurodegeneration of the central and peripheral nervous systems, but little information is available about the mechanisms leading to neuronal damage in this pathology.
Barbara Carletti, Fiorella Piemonte
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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
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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
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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
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Late onset Friedreich's disease: clinical features and mapping of mutation to the FRDA locus. [PDF]

Journal of Neurology, Neurosurgery & Psychiatry, 1994
Twenty two patients from 17 families with Friedreich's disease phenotype but with onset ranging from the ages of 21 to 36 are described. Comparison with "typical" Friedreich's disease with onset before 20 years of age showed only a lower occurrence of skeletal deformities.
DEMICHELE G, FILLA A, CAVALCANTI F, DIMAIO L, PIANESE L, CASTALDO I, CALABRESE O, MONTICELLI A, VARRONE S, CAMPANELLA G, LEONE M, PANDOLFO M, COCOZZA S   +12 more
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PPAR gamma agonist leriglitazone improves frataxin-loss impairments in cellular and animal models of Friedreich Ataxia

Neurobiology of Disease, 2021
Friedreich ataxia (FRDA), the most common autosomal recessive ataxia, is characterized by degeneration of the large sensory neurons and spinocerebellar tracts, cardiomyopathy, and increased incidence in diabetes.
Laura Rodríguez-Pascau, Elena Britti, Pablo Calap-Quintana, Yi Na Dong, Cristina Vergara, Fabien Delaspre, Marta Medina-Carbonero, Jordi Tamarit, Federico V. Pallardó, Pilar Gonzalez-Cabo, Joaquim Ros, David R. Lynch, Marc Martinell, Pilar Pizcueta   +13 more
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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
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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
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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
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