alanine has been researched along with Leigh Disease in 3 studies
Alanine: A non-essential amino acid that occurs in high levels in its free state in plasma. It is produced from pyruvate by transamination. It is involved in sugar and acid metabolism, increases IMMUNITY, and provides energy for muscle tissue, BRAIN, and the CENTRAL NERVOUS SYSTEM.
alanine : An alpha-amino acid that consists of propionic acid bearing an amino substituent at position 2.
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 | 1 (33.33) | 29.6817 |
| 2010's | 2 (66.67) | 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 |
| Koga, Y | 1 |
| Povalko, N | 1 |
| Katayama, K | 1 |
| Kakimoto, N | 1 |
| Matsuishi, T | 1 |
| Naito, E | 1 |
| Tanaka, M | 1 |
| Morava, E | 1 |
| Rodenburg, RJ | 1 |
| Hol, F | 1 |
| de Vries, M | 1 |
| Janssen, A | 1 |
| van den Heuvel, L | 1 |
| Nijtmans, L | 1 |
| Smeitink, J | 1 |
3 other studies available for alanine 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 |
Beneficial effect of pyruvate therapy on Leigh syndrome due to a novel mutation in PDH E1α gene.
Topics: Alanine; Cells, Cultured; Child, Preschool; Dichloroacetic Acid; Electroencephalography; Fibroblasts | 2012 |
Clinical and biochemical characteristics in patients with a high mutant load of the mitochondrial T8993G/C mutations.
Topics: Adenosine Triphosphate; Alanine; Basal Ganglia Diseases; Child; Child, Preschool; DNA, Mitochondrial | 2006 |