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Efficient attenuation of Friedreich's ataxia (FRDA) cardiomyopathy by modulation of iron homeostasis-human induced pluripotent stem cell (hiPSC) as a drug screening platform for FRDA [PDF]

International Journal of Cardiology, 2016
Friedreich's ataxia (FRDA), a recessive neurodegenerative disorder commonly associated with hypertrophic cardiomyopathy, is caused by silencing of the frataxin (FXN) gene encoding the mitochondrial protein involved in iron-sulfur cluster biosynthesis.Application of our previously established FRDA human induced pluripotent stem cell (hiPSC) derived ...
Philip Wing-Lok Ho, Chung Wah Siu, Km Ng   +2 more
exaly   +5 more sources

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Cardiomyopathy of Friedreich’s Ataxia (FRDA)

Irish Journal of Medical Science, 2012
We read the review article on the cardiomyopathy of Friedreich’s ataxia (FRDA) by Drs Bourke and Keane with great interest [1]. It nicely summarizes some of the historical findings related to the cardiomyopathy associated with this disease and appropriately emphasizes a multidisciplinary approach to the treatment of FRDA.
R M, Payne, R E, Peverill
openaire   +2 more sources

Haplotype construction of the FRDA gene and evaluation of its role in type II diabetes [PDF]

European Journal of Human Genetics, 2005
A GAA-repeat in the X25 gene is causing Friedreich's ataxia (FRDA), a common neurodegenerative disease and >20% of FRDA patients develop type II diabetes (T2D). Linkage has previously been detected between T2D and chromosome 9p13-q21, the region that harbours the X25 gene, but association studies of this gene in T2D have been contradicting.
Leif Groop, Peter Almgren, Cecilia Lindgren   +2 more
exaly   +3 more sources

Dissecting the epidemiology of a trinucleotide repeat disease – example of FRDA in Finland

Human Genetics, 2001
Friedreich ataxia (FRDA) is associated with the expansion of a GAA trinucleotide repeat in the first intron of the frataxin (X25) gene. Worldwide it is considered to be the most common form of hereditary ataxia, but it is infrequently encountered in Finland.
Marja-Liisa Savontaus, Savontaus Marja-Liisa, Jaakko Ignatius   +2 more
exaly   +3 more sources

Investigation of mitochondrial DNA variations among Indian Friedreich's ataxia (FRDA) patients

Mitochondrion, 2015
The loss of function mutations (biallelic) in frataxin (FXN) has primarily been implicated in Friedreich's ataxia (FRDA), an autosomal recessive cerebellar ataxia. The protein product of FXN is a nuclear-encoded mitochondrial protein required for the biogenesis of iron- clusters (Fe-S).
Ashoo Grover, Mohammed Faruq, Achal Kumar Srivastava   +2 more
exaly   +3 more sources

A family segregating a Friedreich ataxia phenotype that is not linked to the FRDA locus

Human Genetics, 1996
Friedreich ataxia is an autosomal recessive neurodegenerative disorder. The genetic homogeneity to the FRDA locus on chromosome 9q13-21.1 has been observed in families from different ancestries. We report a Spanish family with two affected and three unaffected children. The segregated classical Friedreich ataxia did not show the expected linkage.
P, Smeyers, E, Monrós, J, Vílchez, J, Lopez-Arlandis, F, Prieto, F, Palau   +5 more
openaire   +2 more sources

Evaluation of an FRDA–EGFP genomic reporter assay in transgenic mice

Mammalian Genome, 2005
Friedreich ataxia is an autosomal recessive neurodegenerative disorder caused by a GAA trinucleotide expansion in the first intron of the Friedreich ataxia gene (FRDA) that causes reduced synthesis of frataxin, a mitochondrial protein likely to be involved in biosynthesis of iron-sulfur clusters.
Joseph P, Sarsero, Timothy P, Holloway, Lingli, Li, Samuel, McLenachan, Kerry J, Fowler, Ivan, Bertoncello, Lucille, Voullaire, Sophie, Gazeas, Panos A, Ioannou   +8 more
openaire   +2 more sources

Physical evidence for the position of the Friedreich’s ataxia locus FRDA proximal to D9S5

Cytogenetics and Cell Genetics, 2008
Orientation of the Friedreich’s ataxia locus (FRDA) with respect to D9S15 and D9S5 has proved critical to the design of subsequent cloning strategies. The rarity of recombination events between FRDA and these markers, originally used to determine assignment to human chromosome region 9q13→q21.1 has necessitated the instigation of physical mapping ...
R, Hillermann, C G, See, M, Pook, D, Wilkes, J, Carvajal, K, Doudney, R, Williamson, S, Chamberlain   +7 more
openaire   +2 more sources

The correlation of clinical phenotype in Friedreich ataxia with the site of point mutations in the FRDA gene

Neurogenetics, 1998
Most cases of Friedreich ataxia (FRDA) are due to expansions of a GAA trinucleotide repeat sequence in the FRDA gene coding for frataxin, a protein of poorly understood function which may regulate mitochondrial iron transport. However, between 1% and 5% of mutations are single base changes in the sequence of the FRDA gene, causing missense, nonsense ...
Damien Paris, Garth Nicholson, Martin Delatycki   +2 more
exaly   +4 more sources

Upregulation of expression from the FRDA genomic locus for the therapy of Friedreich ataxia

The Journal of Gene Medicine, 2002
AbstractBackgroundFriedreich ataxia is a slowly progressive neurodegenerative disease caused by reduced expression of frataxin as a result of a GAA repeat expansion in the first intron of the FRDA gene. We report here the development of a sensitive cellular assay for frataxin expression from the intact FRDA locus that should facilitate the ...
Joseph P, Sarsero, Lingli, Li, Hady, Wardan, Karin, Sitte, Robert, Williamson, Panos A, Ioannou   +5 more
openaire   +2 more sources