alanine has been researched along with Alexander Disease in 1 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.
Alexander Disease: Rare leukoencephalopathy with infantile-onset accumulation of Rosenthal fibers in the subpial, periventricular, and subependymal zones of the brain. Rosenthal fibers are GLIAL FIBRILLARY ACIDIC PROTEIN aggregates found in ASTROCYTES. Juvenile- and adult-onset types show progressive atrophy of the lower brainstem instead. De novo mutations in the GFAP gene are associated with the disease with propensity for paternal inheritance.
| Excerpt | Relevance | Reference |
|---|---|---|
| "We report here two cases of infantile Alexander disease with early onset and severe course, caused by DE NOVO mutations A364 V and Y366C." | 1.34 | Novel mutations in exon 6 of the GFAP gene affect a highly conserved if motif in the rod domain 2B and are associated with early onset infantile Alexander disease. ( Christen, HJ; Das, AM; Donnerstag, F; Hagedorn, M; Hartmann, H; Herchenbach, J; Ledaal, P; Lücke, T; Meins, M; Stephani, U, 2007) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 0 (0.00) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 1 (100.00) | 29.6817 |
| 2010's | 0 (0.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Hartmann, H | 1 |
| Herchenbach, J | 1 |
| Stephani, U | 1 |
| Ledaal, P | 1 |
| Donnerstag, F | 1 |
| Lücke, T | 1 |
| Das, AM | 1 |
| Christen, HJ | 1 |
| Hagedorn, M | 1 |
| Meins, M | 1 |
1 other study available for alanine and Alexander Disease
| Article | Year |
|---|---|
Novel mutations in exon 6 of the GFAP gene affect a highly conserved if motif in the rod domain 2B and are associated with early onset infantile Alexander disease.
Topics: Age of Onset; Alanine; Alexander Disease; Cysteine; DNA Mutational Analysis; Exons; Female; Frontal | 2007 |