serine has been researched along with Friedreich Ataxia in 1 studies
Serine: A non-essential amino acid occurring in natural form as the L-isomer. It is synthesized from GLYCINE or THREONINE. It is involved in the biosynthesis of PURINES; PYRIMIDINES; and other amino acids.
serine : An alpha-amino acid that is alanine substituted at position 3 by a hydroxy group.
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)
Timeframe | Studies, this research(%) | All Research% |
---|---|---|
pre-1990 | 1 (100.00) | 18.7374 |
1990's | 0 (0.00) | 18.2507 |
2000's | 0 (0.00) | 29.6817 |
2010's | 0 (0.00) | 24.3611 |
2020's | 0 (0.00) | 2.80 |
Authors | Studies |
---|---|
Lemieux, B | 1 |
Barbeau, A | 1 |
Beroniade, V | 1 |
Shapcott, D | 1 |
Breton, G | 1 |
Geoffroy, G | 1 |
Melançon, S | 1 |
1 other study available for serine and Friedreich Ataxia
Article | Year |
---|---|
Amino acid metabolism in Friedreich's ataxia.
Topics: Alanine; Amino Acids; Aminobutyrates; Asparagine; Aspartic Acid; Friedreich Ataxia; Glycine; Histidi | 1976 |