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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).
Inder Singh +2 more
exaly +4 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−
S T Cole, John R Guest, J R Guest
exaly +4 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 ...
Martin B Delatycki +2 more
exaly +5 more sources
G130V, a common FRDA point mutation, appears to have arisen from a common founder
Human Genetics, 1999 Friedreich ataxia (FRDA) is the most common inherited ataxia. About 98% of mutant alleles have an expansion of a GAA trinucleotide repeat in intron 1 of the affected gene, FRDA. The other 2% are point mutations. Of the 17 point mutations so far described, three appear to be more common. One of these is the G130V mutation in exon 4 of FRDA.
M B Delatycki +2 more
exaly +4 more sources
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Sensitivity of FRDA Lymphoblasts to Salts of Transition Metal Ions
Antioxidants and Redox Signaling, 2000Friedreich's ataxia (FRDA) is an autosomal recessive neurodegenerative disease resulting from decreased expression of the nuclear-encoded mitochondrial protein, frataxin. FRDA patients have characteristic iron deposits and dysfunction of mitochondrial enzymes in the heart.
Alice Wong +2 more
exaly +3 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.
Vesa Juvonen +2 more
exaly +3 more sources
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
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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