adenine has been researched along with Friedreich Disease in 7 studies
Excerpt | Relevance | Reference |
---|---|---|
"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." | 8.12 | 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. ( 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." | 4.12 | 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. ( 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." | 1.72 | Premature 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) |
Timeframe | Studies, this research(%) | All Research% |
---|---|---|
pre-1990 | 0 (0.00) | 18.7374 |
1990's | 0 (0.00) | 18.2507 |
2000's | 1 (14.29) | 29.6817 |
2010's | 2 (28.57) | 24.3611 |
2020's | 4 (57.14) | 2.80 |
Authors | Studies |
---|---|
Yang, W | 1 |
Thompson, B | 1 |
Kwa, FAA | 1 |
Jama, M | 1 |
Margraf, RL | 1 |
Yu, P | 1 |
Reading, NS | 1 |
Bayrak-Toydemir, P | 1 |
Li, Y | 3 |
Li, J | 1 |
Wang, J | 1 |
Zhang, S | 1 |
Giles, K | 1 |
Prakash, TP | 1 |
Rigo, F | 1 |
Napierala, JS | 2 |
Napierala, M | 4 |
Wang, D | 1 |
Ho, ES | 1 |
Cotticelli, MG | 1 |
Xu, P | 1 |
Hauser, LA | 1 |
Himes, BE | 1 |
Wilson, RB | 1 |
Lynch, DR | 3 |
Mesaros, C | 1 |
Polak, U | 2 |
Bhalla, AD | 2 |
Rozwadowska, N | 2 |
Butler, JS | 2 |
Dent, SYR | 1 |
Lu, Y | 1 |
Lin, K | 1 |
Shen, J | 1 |
Farmer, J | 1 |
Seyer, L | 1 |
Chauhan, C | 1 |
Dash, D | 1 |
Grover, D | 1 |
Rajamani, J | 1 |
Mukerji, M | 1 |
1 review available for adenine and Friedreich Disease
Article | Year |
---|---|
Molecular approaches for the treatment and prevention of Friedreich's ataxia.
Topics: Adenine; Friedreich Ataxia; Humans | 2022 |
6 other studies available for adenine and Friedreich Disease
Article | Year |
---|---|
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.
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.
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.
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.
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.
Topics: Adenine; Frataxin; Friedreich Ataxia; Gene Silencing; Genetic Loci; Guanine; Histones; Iron-Binding | 2015 |
Origin and instability of GAA repeats: insights from Alu elements.
Topics: 3' Flanking Region; Adenine; Algorithms; Alleles; Alu Elements; Chromosomes, Human, Pair 22; Databas | 2002 |