Results 131 to 140 of about 5,660 (167)
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 +2 more
exaly +3 more sources
Some of the next articles are maybe not open access.
Related searches:
Related searches:
Cardiomyopathy of Friedreich’s Ataxia (FRDA)
Irish Journal of Medical Science, 2012We 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
Dissecting the epidemiology of a trinucleotide repeat disease – example of FRDA in Finland
Human Genetics, 2001Friedreich 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, Vesa Juvonen
exaly +3 more sources
Investigation of mitochondrial DNA variations among Indian Friedreich's ataxia (FRDA) patients
Mitochondrion, 2015The 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 +2 more
exaly +3 more sources
Evaluation of an FRDA–EGFP genomic reporter assay in transgenic mice
Mammalian Genome, 2005Friedreich 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 +8 more
openaire +2 more sources
A family segregating a Friedreich ataxia phenotype that is not linked to the FRDA locus
Human Genetics, 1996Friedreich 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 +5 more
openaire +2 more sources
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 +2 more
exaly +4 more sources
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 +2 more
exaly +4 more sources
Physical evidence for the position of the Friedreich’s ataxia locus FRDA proximal to D9S5
Cytogenetics and Cell Genetics, 2008Orientation 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 +7 more
openaire +2 more sources
Molecular Genetics and Genomics, 1980
Thermoinducible lysis-defective derivatives of λfrdA phages (λG1F and λG40F) carrying the fumarate marate reductase gene of Escherichia coli, inserted in each of two possible orientations, were used to amplify fumarate reductase synthesis and study the aerobic repression of frdA gene expression. Anaerobic induction of lysogens containing λfrdA cItsQ−S−
John R Guest, J R Guest
exaly +3 more sources
Thermoinducible lysis-defective derivatives of λfrdA phages (λG1F and λG40F) carrying the fumarate marate reductase gene of Escherichia coli, inserted in each of two possible orientations, were used to amplify fumarate reductase synthesis and study the aerobic repression of frdA gene expression. Anaerobic induction of lysogens containing λfrdA cItsQ−S−
John R Guest, J R Guest
exaly +3 more sources
Upregulation of expression from the FRDA genomic locus for the therapy of Friedreich ataxia
The Journal of Gene Medicine, 2002AbstractBackgroundFriedreich 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 +5 more
openaire +2 more sources