serine has been researched along with Gaucher Disease in 8 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.
Gaucher Disease: An autosomal recessive disorder caused by a deficiency of acid beta-glucosidase (GLUCOSYLCERAMIDASE) leading to intralysosomal accumulation of glycosylceramide mainly in cells of the MONONUCLEAR PHAGOCYTE SYSTEM. The characteristic Gaucher cells, glycosphingolipid-filled HISTIOCYTES, displace normal cells in BONE MARROW and visceral organs causing skeletal deterioration, hepatosplenomegaly, and organ dysfunction. There are several subtypes based on the presence and severity of neurological involvement.
| Excerpt | Relevance | Reference |
|---|---|---|
| "Gaucher disease is one of the most prevalent lysosomal disorders." | 1.35 | [Molecular analysis of the p.Asn 370 Ser mutation in Gaucher disease]. ( Ben Khelifa, S; Bonnet, V; Chkioua, L; Dandana, A; Ferchichi, S; Froissart, R; Jaidane, Z; Laradi, S; Maire, I; Miled, A; Monastiri, K, 2008) |
| "Gaucher disease is an autosomal recessive lysosomal storage disorder caused by the deficient activity of glucocerebrosidase." | 1.33 | Hydrophilic iminosugar active-site-specific chaperones increase residual glucocerebrosidase activity in fibroblasts from Gaucher patients. ( Asano, N; Chang, HH; Fan, JQ; Ichikawa, Y; Ishii, S, 2006) |
| "Gaucher disease is a lysosomal storage disorder caused by deficiency in lysosomal acid beta-glucosidase (GlcCerase), the enzyme responsible for the catabolism of glucosylceramide." | 1.33 | The iminosugar isofagomine increases the activity of N370S mutant acid beta-glucosidase in Gaucher fibroblasts by several mechanisms. ( Chung, S; Do, H; Kornfeld, SA; Powe, A; Steet, RA; Wustman, B, 2006) |
| Timeframe | Studies, this research(%) | All Research% |
|---|---|---|
| pre-1990 | 2 (25.00) | 18.7374 |
| 1990's | 2 (25.00) | 18.2507 |
| 2000's | 4 (50.00) | 29.6817 |
| 2010's | 0 (0.00) | 24.3611 |
| 2020's | 0 (0.00) | 2.80 |
| Authors | Studies |
|---|---|
| Torralba, MA | 1 |
| Pérez-Calvo, JI | 1 |
| Chang, HH | 1 |
| Asano, N | 1 |
| Ishii, S | 1 |
| Ichikawa, Y | 1 |
| Fan, JQ | 1 |
| Steet, RA | 1 |
| Chung, S | 1 |
| Wustman, B | 1 |
| Powe, A | 1 |
| Do, H | 1 |
| Kornfeld, SA | 1 |
| Dandana, A | 1 |
| Ferchichi, S | 1 |
| Ben Khelifa, S | 1 |
| Jaidane, Z | 1 |
| Monastiri, K | 1 |
| Chkioua, L | 1 |
| Maire, I | 1 |
| Froissart, R | 1 |
| Bonnet, V | 1 |
| Laradi, S | 1 |
| Miled, A | 1 |
| Laubscher, KH | 1 |
| Glew, RH | 1 |
| Lee, RE | 1 |
| Okinaka, RT | 1 |
| van Weely, S | 1 |
| van den Berg, M | 1 |
| Barranger, JA | 1 |
| Sa Miranda, MC | 1 |
| Tager, JM | 1 |
| Aerts, JM | 1 |
| Hultberg, B | 1 |
| Ockerman, PA | 1 |
| Eriksson, O | 1 |
| Touster, O | 1 |
1 review available for serine and Gaucher Disease
| Article | Year |
|---|---|
Some aspects of the cellular biochemistry of lysosomal and related glycosidases.
Topics: Animals; Carbohydrate Metabolism, Inborn Errors; Diffuse Cerebral Sclerosis of Schilder; Fucose; Gal | 1973 |
7 other studies available for serine and Gaucher Disease
| Article | Year |
|---|---|
Phenotypic heterogeneity of N370S homozygotes with type I Gaucher disease.
Topics: Amino Acid Substitution; Gaucher Disease; Genetic Heterogeneity; Homozygote; Humans; Phenotype; Seri | 2009 |
Hydrophilic iminosugar active-site-specific chaperones increase residual glucocerebrosidase activity in fibroblasts from Gaucher patients.
Topics: Amino Acid Substitution; Asparagine; Binding Sites; Cells, Cultured; Enzyme Inhibitors; Fibroblasts; | 2006 |
The iminosugar isofagomine increases the activity of N370S mutant acid beta-glucosidase in Gaucher fibroblasts by several mechanisms.
Topics: Asparagine; Binding Sites; Catalysis; Cells, Cultured; Endoplasmic Reticulum; Enzyme Activation; Enz | 2006 |
[Molecular analysis of the p.Asn 370 Ser mutation in Gaucher disease].
Topics: Amino Acid Substitution; Asparagine; Diagnosis, Differential; DNA; DNA Primers; Exons; Gaucher Disea | 2008 |
Use of denaturing gradient gel electrophoresis to identify mutant sequences in the beta-glucocerebrosidase gene.
Topics: Base Sequence; Child, Preschool; DNA Mutational Analysis; DNA Primers; Electrophoresis, Polyacrylami | 1994 |
Role of pH in determining the cell-type-specific residual activity of glucocerebrosidase in type 1 Gaucher disease.
Topics: Amino Acid Sequence; Asparagine; Cells, Cultured; Fibroblasts; Gaucher Disease; Genotype; Glucosylce | 1993 |
Urinary amino acids in storage disorders: mucopolysaccharidosis, Gaucher's disease and metachromatic leucodystrophy.
Topics: Adolescent; Adult; Amino Acids; Carbohydrate Metabolism, Inborn Errors; Child; Child, Preschool; Dif | 1969 |