serine has been researched along with Leigh Disease in 2 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.
Leigh Disease: A group of metabolic disorders primarily of infancy characterized by the subacute onset of psychomotor retardation, hypotonia, ataxia, weakness, vision loss, eye movement abnormalities, seizures, dysphagia, and lactic acidosis. Pathological features include spongy degeneration of the neuropile of the basal ganglia, thalamus, brain stem, and spinal cord. Patterns of inheritance include X-linked recessive, autosomal recessive, and mitochondrial. Leigh disease has been associated with mutations in genes for the PYRUVATE DEHYDROGENASE COMPLEX; CYTOCHROME-C OXIDASE; ATP synthase subunit 6; and subunits of mitochondrial complex I. (From Menkes, Textbook of Child Neurology, 5th ed, p850).
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 0 (0.00) | 29.6817 |
| 2010's | 2 (100.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Sinha, A | 1 |
| Köhrer, C | 1 |
| Weber, MH | 1 |
| Masuda, I | 1 |
| Mootha, VK | 1 |
| Hou, YM | 1 |
| RajBhandary, UL | 1 |
| Nesbitt, V | 1 |
| Morrison, PJ | 1 |
| Crushell, E | 1 |
| Donnelly, DE | 1 |
| Alston, CL | 1 |
| He, L | 1 |
| McFarland, R | 1 |
| Taylor, RW | 1 |
1 review available for serine and Leigh Disease
| Article | Year |
|---|---|
The clinical spectrum of the m.10191T>C mutation in complex I-deficient Leigh syndrome.
Topics: Adult; Brain; Child, Preschool; Electron Transport Complex I; Female; Humans; Infant; Infant, Newbor | 2012 |
1 other study available for serine and Leigh Disease
| Article | Year |
|---|---|
Biochemical characterization of pathogenic mutations in human mitochondrial methionyl-tRNA formyltransferase.
Topics: Alanine; Amino Acid Sequence; Amino Acid Substitution; Base Sequence; Escherichia coli Proteins; Hum | 2014 |