alanine has been researched along with Hepatolenticular Degeneration in 5 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.
Hepatolenticular Degeneration: A rare autosomal recessive disease characterized by the deposition of copper in the BRAIN; LIVER; CORNEA; and other organs. It is caused by defects in the ATP7B gene encoding copper-transporting ATPase 2 (EC 3.6.3.4), also known as the Wilson disease protein. The overload of copper inevitably leads to progressive liver and neurological dysfunction such as LIVER CIRRHOSIS; TREMOR; ATAXIA and intellectual deterioration. Hepatic dysfunction may precede neurologic dysfunction by several years.
| Excerpt | Relevance | Reference |
|---|---|---|
| "Genotype phenotype correlations in Wilson disease (WD) are best established in homozygous patients or in compound heterozygous patients carrying the same set of mutations." | 1.40 | Phenotype-genotype correlation in Wilson disease in a large Lebanese family: association of c.2299insC with hepatic and of p. Ala1003Thr with neurologic phenotype. ( Barada, K; El-Rifai, O; Estiphan, TA; Majarian, T; Rida, K; Usta, J; Wehbeh, A, 2014) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 2 (40.00) | 18.7374 |
| 1990's | 0 (0.00) | 18.2507 |
| 2000's | 0 (0.00) | 29.6817 |
| 2010's | 3 (60.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Heissat, S | 1 |
| Harel, A | 1 |
| Um, K | 1 |
| Brunet, AS | 1 |
| Hervieu, V | 1 |
| Guillaud, O | 1 |
| Dumortier, J | 1 |
| Lachaux, A | 1 |
| Mintz, E | 1 |
| Bost, M | 1 |
| Usta, J | 1 |
| Wehbeh, A | 1 |
| Rida, K | 1 |
| El-Rifai, O | 1 |
| Estiphan, TA | 1 |
| Majarian, T | 1 |
| Barada, K | 1 |
| Sauer, SW | 1 |
| Merle, U | 1 |
| Opp, S | 1 |
| Haas, D | 1 |
| Hoffmann, GF | 1 |
| Stremmel, W | 1 |
| Okun, JG | 1 |
| Greco, GM | 1 |
| Magli, A | 1 |
| François, J | 1 |
2 reviews available for alanine and Hepatolenticular Degeneration
| Article | Year |
|---|---|
[Eye manifestations of amino acid disorders].
Topics: Alanine; Albinism; Alkaptonuria; Amino Acid Metabolism, Inborn Errors; Child; Cystinosis; Cystinuria | 1978 |
Ocular manifestations in aminoacidopathies.
Topics: Adult; Alanine; Albinism; Amino Acid Metabolism, Inborn Errors; Child; Child, Preschool; Cystinosis; | 1972 |
3 other studies available for alanine and Hepatolenticular Degeneration
| Article | Year |
|---|---|
Evaluation of the accuracy of exchangeable copper and relative exchangeable copper (REC) in a mouse model of Wilson's disease.
Topics: Adenosine Triphosphatases; Alanine; Animals; Aspartate Aminotransferases; Bilirubin; Biomarkers; Cop | 2018 |
Phenotype-genotype correlation in Wilson disease in a large Lebanese family: association of c.2299insC with hepatic and of p. Ala1003Thr with neurologic phenotype.
Topics: Adenosine Triphosphatases; Adolescent; Alanine; Cation Transport Proteins; Child; Child, Preschool; | 2014 |
Severe dysfunction of respiratory chain and cholesterol metabolism in Atp7b(-/-) mice as a model for Wilson disease.
Topics: Aconitate Hydratase; Adenosine Triphosphatases; Alanine; Animals; Brain; Carnitine; Cation Transport | 2011 |