adenine has been researched along with Friedreich Ataxia in 7 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)
| 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 Ataxia
| 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 Ataxia
| 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 |