Page last updated: 2024-10-16

adenine and Friedreich Disease

adenine has been researched along with Friedreich Disease in 7 studies

Research Excerpts

ExcerptRelevanceReference
"Friedreich ataxia is a rare autosomal recessive, neuromuscular degenerative disease caused by an expansion of a trinucleotide [guanine-adenine-adenine (GAA)] repeat in intron 1 of the FXN gene."8.12A Comprehensive Triple-Repeat Primed PCR and a Long-Range PCR Agarose-Based Assay for Improved Genotyping of Guanine-Adenine-Adenine Repeats in Friedreich Ataxia. ( Bayrak-Toydemir, P; Jama, M; Margraf, RL; Reading, NS; Yu, P, 2022)
"Friedreich ataxia is a rare autosomal recessive, neuromuscular degenerative disease caused by an expansion of a trinucleotide [guanine-adenine-adenine (GAA)] repeat in intron 1 of the FXN gene."4.12A Comprehensive Triple-Repeat Primed PCR and a Long-Range PCR Agarose-Based Assay for Improved Genotyping of Guanine-Adenine-Adenine Repeats in Friedreich Ataxia. ( Bayrak-Toydemir, P; Jama, M; Margraf, RL; Reading, NS; Yu, P, 2022)
"Frataxin deficiency in Friedreich's ataxia results from transcriptional downregulation of the FXN gene caused by expansion of the intronic trinucleotide guanine-adenine-adenine (GAA) repeats."1.72Premature transcription termination at the expanded GAA repeats and aberrant alternative polyadenylation contributes to the Frataxin transcriptional deficit in Friedreich's ataxia. ( Giles, K; Li, J; Li, Y; Napierala, JS; Napierala, M; Prakash, TP; Rigo, F; Wang, J; Zhang, S, 2022)

Research

Studies (7)

TimeframeStudies, this research(%)All Research%
pre-19900 (0.00)18.7374
1990's0 (0.00)18.2507
2000's1 (14.29)29.6817
2010's2 (28.57)24.3611
2020's4 (57.14)2.80

Authors

AuthorsStudies
Yang, W1
Thompson, B1
Kwa, FAA1
Jama, M1
Margraf, RL1
Yu, P1
Reading, NS1
Bayrak-Toydemir, P1
Li, Y3
Li, J1
Wang, J1
Zhang, S1
Giles, K1
Prakash, TP1
Rigo, F1
Napierala, JS2
Napierala, M4
Wang, D1
Ho, ES1
Cotticelli, MG1
Xu, P1
Hauser, LA1
Himes, BE1
Wilson, RB1
Lynch, DR3
Mesaros, C1
Polak, U2
Bhalla, AD2
Rozwadowska, N2
Butler, JS2
Dent, SYR1
Lu, Y1
Lin, K1
Shen, J1
Farmer, J1
Seyer, L1
Chauhan, C1
Dash, D1
Grover, D1
Rajamani, J1
Mukerji, M1

Reviews

1 review available for adenine and Friedreich Disease

ArticleYear
Molecular approaches for the treatment and prevention of Friedreich's ataxia.
    Drug discovery today, 2022, Volume: 27, Issue:3

    Topics: Adenine; Friedreich Ataxia; Humans

2022

Other Studies

6 other studies available for adenine and Friedreich Disease

ArticleYear
A Comprehensive Triple-Repeat Primed PCR and a Long-Range PCR Agarose-Based Assay for Improved Genotyping of Guanine-Adenine-Adenine Repeats in Friedreich Ataxia.
    The Journal of molecular diagnostics : JMD, 2022, Volume: 24, Issue:8

    Topics: Adenine; Friedreich Ataxia; Genotype; Guanine; Humans; Iron-Binding Proteins; Polymerase Chain React

2022
Premature transcription termination at the expanded GAA repeats and aberrant alternative polyadenylation contributes to the Frataxin transcriptional deficit in Friedreich's ataxia.
    Human molecular genetics, 2022, 10-10, Volume: 31, Issue:20

    Topics: Adenine; Arsenicals; Frataxin; Friedreich Ataxia; Gallium; Guanine; Humans; Iron-Binding Proteins; O

2022
Skin fibroblast metabolomic profiling reveals that lipid dysfunction predicts the severity of Friedreich's ataxia.
    Journal of lipid research, 2022, Volume: 63, Issue:9

    Topics: 3-Hydroxybutyric Acid; Adenine; Carnitine; Ceramides; Coenzyme A; Fibroblasts; Friedreich Ataxia; Gu

2022
Excision of Expanded GAA Repeats Alleviates the Molecular Phenotype of Friedreich's Ataxia.
    Molecular therapy : the journal of the American Society of Gene Therapy, 2015, Volume: 23, Issue:6

    Topics: Aconitate Hydratase; Adenine; Alleles; Cell Differentiation; Endodeoxyribonucleases; Fibroblasts; Fr

2015
Expanded GAA repeats impede transcription elongation through the FXN gene and induce transcriptional silencing that is restricted to the FXN locus.
    Human molecular genetics, 2015, Dec-15, Volume: 24, Issue:24

    Topics: Adenine; Frataxin; Friedreich Ataxia; Gene Silencing; Genetic Loci; Guanine; Histones; Iron-Binding

2015
Origin and instability of GAA repeats: insights from Alu elements.
    Journal of biomolecular structure & dynamics, 2002, Volume: 20, Issue:2

    Topics: 3' Flanking Region; Adenine; Algorithms; Alleles; Alu Elements; Chromosomes, Human, Pair 22; Databas

2002