serine has been researched along with Acid beta-Glucosidase Deficiency 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.
| 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 Acid beta-Glucosidase Deficiency
| 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 Acid beta-Glucosidase Deficiency
| 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 |