Page last updated: 2024-10-17

cytosine and Friedreich Ataxia

cytosine has been researched along with Friedreich Ataxia in 2 studies

Friedreich Ataxia: An autosomal recessive disease, usually of childhood onset, characterized pathologically by degeneration of the spinocerebellar tracts, posterior columns, and to a lesser extent the corticospinal tracts. Clinical manifestations include GAIT ATAXIA, pes cavus, speech impairment, lateral curvature of spine, rhythmic head tremor, kyphoscoliosis, congestive heart failure (secondary to a cardiomyopathy), and lower extremity weakness. Most forms of this condition are associated with a mutation in a gene on chromosome 9, at band q13, which codes for the mitochondrial protein frataxin. (From Adams et al., Principles of Neurology, 6th ed, p1081; N Engl J Med 1996 Oct 17;335(16):1169-75) The severity of Friedreich ataxia associated with expansion of GAA repeats in the first intron of the frataxin gene correlates with the number of trinucleotide repeats. (From Durr et al, N Engl J Med 1996 Oct 17;335(16):1169-75)

Research

Studies (2)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's1 (50.00)18.2507
2000's0 (0.00)29.6817
2010's1 (50.00)24.3611
2020's0 (0.00)2.80

Authors

AuthorsStudies
Al-Mahdawi, S1
Sandi, C1
Mouro Pinto, R1
Pook, MA1
Mariappan, SV1
Catasti, P1
Silks, LA1
Bradbury, EM1
Gupta, G1

Other Studies

2 other studies available for cytosine and Friedreich Ataxia

ArticleYear
Friedreich ataxia patient tissues exhibit increased 5-hydroxymethylcytosine modification and decreased CTCF binding at the FXN locus.
    PloS one, 2013, Volume: 8, Issue:9

    Topics: 5-Methylcytosine; 5' Untranslated Regions; Adolescent; Adult; CCCTC-Binding Factor; Cerebellum; Cyto

2013
The high-resolution structure of the triplex formed by the GAA/TTC triplet repeat associated with Friedreich's ataxia.
    Journal of molecular biology, 1999, Feb-05, Volume: 285, Issue:5

    Topics: Cytosine; DNA; DNA, Single-Stranded; Friedreich Ataxia; Humans; Magnetic Resonance Spectroscopy; Mod

1999