EC Number   |
Recommended Name |
Application |
|---|
   1.1.1.62 | 17beta-estradiol 17-dehydrogenase |
medicine |
17beta-HSD1 is an attractive target for the treatment of mammary tumours |
| 1.1.1.62 | 17beta-estradiol 17-dehydrogenase |
medicine |
17beta-HSD1 is overexpressed in many breast tumors. Thus, it is an attractive target for the treatment of these diseases |
| 1.1.1.62 | 17beta-estradiol 17-dehydrogenase |
medicine |
disease iondications for HSD17B1 inhibitors in disorders in the female reproductive organs associated with enhanced androgen action, such as ovarian serous cystadenomas |
| 1.1.1.62 | 17beta-estradiol 17-dehydrogenase |
medicine |
inhibitors of the enzyme have potential as treatments for hormone dependent breast cancer |
| 1.1.1.62 | 17beta-estradiol 17-dehydrogenase |
medicine |
17beta-hydroxysteroid dehydrogenase type 2 is mainly involved in the conversion of estradiol into estrone. Their ratio is decreased from 9/1 to 7/3 after over-expression of 17beta-hydroxysteroid dehydrogenase type 2 in MCF-7 cells already over-expressing 17beta-hydroxysteroid dehydrogenase type 1. The ratio is further decreased by the addition of the oxidative cofactor, NAD, to the cell culture to facilitate the estradiol to estrone conversion catalyzed by 17beta-hydroxysteroid dehydrogenase type 2 |
| 1.1.1.62 | 17beta-estradiol 17-dehydrogenase |
medicine |
application of medroxyprogestrone acetate, dydrogesterone and dienogest significantly decreases isoforms HSD17B1 and CYP19A1 expression and significantly increases isoform HSD17B2 expression. Dydrogesterone and dienogest also significantly suppress estrogen receptors ESR1 and ESR2 transcription, whereas medroxyprogestrone acetate and dydrogesterone significantly reduce mRNA levels of G protein-coupled estrogen receptor 1. Results thus suggest that in peritoneal endometriosis the beneficial effects of these progestins can be explained by lower HSD17B1 and higher HSD17B2 mRNA and protein levels, which lead to reduced local estradiol biosynthesis |
| 1.1.1.62 | 17beta-estradiol 17-dehydrogenase |
medicine |
isoform 17betaHSD6 is expressed in estrogen receptor beta-positive epithelial cells of the human prostate. In prostate cancers of Gleason grade higher than 3, both estrogen receptor beta and isoform 17betaHSD6 are undetectable |
| 1.1.1.62 | 17beta-estradiol 17-dehydrogenase |
medicine |
Patients with oestrogen positive tumours with high isoform 17betaHSD14 expression have fewer local recurrences when treated with tamoxifen compared to patients with lower tumoural 17betaHSD14 expression, for whom tamoxifen does not reduce the number of local recurrences. No prognostic importance of 17betaHSD14 is seen for systemically untreated patients |
| 1.1.1.62 | 17beta-estradiol 17-dehydrogenase |
medicine |
twenty four hours after addition of different concentrations of estrone and estradiol, the ratio stabilizes to around 9/1 in breast cancer cell lines with high expression of 17beta-hydroxysteroid dehydrogenase type 1, such as T47D, BT 20, and JEG 3 cells, whereas it approaches 1/5 in cells with low expression of 17beta-hydroxysteroid dehydrogenase type 1, such as MCF-7 cells. The estradiol/estrone concentration ratio is modified to 9/1 in MCF-7 and HEK-293 cells over-expressing 17beta-hydroxysteroid dehydrogenase type 1. In T47D and BT 20 cells , this ratio is decreased from 9/1 to nearly 1/5 after 17beta-hydroxysteroid dehydrogenase type 1 knockdown by specific siRNAs |
| 1.1.1.62 | 17beta-estradiol 17-dehydrogenase |
medicine |
17betaHSD1 is an important prognostic factor in non-small cell lung carcinoma, NSCLC, patients and targeting 17betaHSD1 activity may further improve the clinical response in estrogen responsive NSCLC patients |
| 1.1.1.62 | 17beta-estradiol 17-dehydrogenase |
medicine |
enzyme inhibition can lead to desired increase of estradiol and testosterone levels in the bone tissue and may be used for the treatment of osteoporosis |
| 1.1.1.62 | 17beta-estradiol 17-dehydrogenase |
medicine |
enzyme inhibition is considered as a treatment option for osteoporosis to ameliorate estrogen deficiency |
| 1.1.1.62 | 17beta-estradiol 17-dehydrogenase |
medicine |
inhibition of 17beta-hydroxysteroid dehydrogenase type 2 (17beta-HSD2) can help maintaining the appropriate bone mass density in osteoporosis by increasing the level of estradiol and testosterone in bone |
 1.1.1.64 | testosterone 17beta-dehydrogenase (NADP+) |
medicine |
exposure of HCT-15 cells to cisplatin results in aquisition of cisplatin resistance and concomitant induction of isoform AKR1C3 and aldo-keto reductase AKR1C1 expression. The resistance lowers the sensitivity toward cellular damages evoked by oxidative stress-derived aldehydes, 4-hydroxy-2-nonenal and 4-oxo-2-nonenal that are detoxified by AKR1C1 and AKR1C3. Overexpression of AKR1C1 or AKR1C3 in the parental HCT15 cells mitigates the cytotoxicity of the aldehydes and cisplatin. Knockdown of both AKR1C1 and AKR1C3 in the resistant cells or treatment of the cells with specific inhibitors of the aldo-keto reductases increases the sensitivity to ciplatin toxicity. Pretreatment of the resistant cells with proteasome inhibitor Z-Leu-Leu-Leu-al augments the cisplatin sensitization elicited by aldo-keto reductase inhibitors |
| 1.1.1.64 | testosterone 17beta-dehydrogenase (NADP+) |
medicine |
positive isoform AKR1C3 immunoreactivity is extensively present in both adenocarcinoma and squamous cell carcinoma arising from the lung and the gastroesophageal junction. Isoform AKR1C3 immunoreactivity is absent in small cell carcinoma of the lung |
| 1.1.1.64 | testosterone 17beta-dehydrogenase (NADP+) |
medicine |
uniform, diffuse, and strong expression of isoform AKR1C3 in normal endometrial epithelium but not in endometrial stromal cells. The expression of AKR1C3 is reduced in both hyperplastic and carcinomatous endometrial epithelium |
| 1.1.1.72 | glycerol dehydrogenase (NADP+) |
medicine |
NADP(+)-dependent glycerol dehydrogenase homologous protein is a major allergen. Glycerol dehydrogenase shows IgE reactivity amongst the selected atopic patient cohort. All together, 10 cross-reactive IgE-binding proteins are detected |
| 1.1.1.87 | homoisocitrate dehydrogenase |
medicine |
detection of unique gene LYS1 for rapid identification of pathogenic fungi, LYS1 gene is a possible target for selective inhibition of growth of pathogenic fungi in vivo |
| 1.1.1.88 | hydroxymethylglutaryl-CoA reductase |
medicine |
target enzyme for chemotherapy of hypercholesterolemias |
| 1.1.1.88 | hydroxymethylglutaryl-CoA reductase |
medicine |
in endotoxemic mice, leukocyte infiltration in the liver is significantly elevated. Simvastatin significantly reduces endotoxin-induced hepatocellular damage and apoptosis. Hepatic accumulation of leukocytes is attenuated by simvastatin. Co-administration of mevalonate abolishes the protective effects of simvastatin on endotoxin-provoked increases in serum alanine transferase and serum alanine transferase as well as leukocyte recruitment |
| 1.1.1.88 | hydroxymethylglutaryl-CoA reductase |
medicine |
pterygium has an altered metabolism of cholesterol, namely increased LDL-R and HMG-CoA-R mRNAs. Both genes may play important roles in the pathogenesis of pterygium |
| 1.1.1.105 | all-trans-retinol dehydrogenase (NAD+) |
medicine |
mutations in RDH12 are associated with Leber congenital amaurosis |
| 1.1.1.135 | GDP-6-deoxy-D-talose 4-dehydrogenase |
medicine |
L122C and R130C are missence mutations found in patients with inborn error of isoleucine degradation, almost complete loss of enzyme activity |
| 1.1.1.141 | 15-hydroxyprostaglandin dehydrogenase (NAD+) |
medicine |
15-hydroxyprostaglandin dehydrogenase hypomorphic mice show a decreased level of enzyme mRNA and activity in all tissues examined. Mice show spontaneous preterm labor in the absence of progesterone withdrawal, and the onset of labor is preceded by prematurely increased concentrations of prostaglandin E2 and F2alpha. The fetal genotype plays a role in birth timing |
| 1.1.1.141 | 15-hydroxyprostaglandin dehydrogenase (NAD+) |
medicine |
A140P is a naturally occuring mutation in patients with pulmonary hypertrophic osteoarthropathy. Homozygous individuals develop pulmonary hypertrophic osteoarthropathy secondary to chronically elevated prostaglandin E2 levels. Heterozygous relatives also show milder biochemical and clinical manifestations. Identification of an insertion-deletion mutation in 15-hydroxyprostaglandin dehydrogenase exon 3, this alters the open reading frame from codon 78, truncating the protein after ten altered amino acids, and of a homozygous 2-bp deletion within the duplicated dinucleotide CTCT at nucleotides 175 and 176. This alters the reading frame from residue 59 and truncates the HPGD protein at residue 65 after seven altered amino acids. Both of these predicted truncated proteins lack the entire PGE2-binding domain and cause primary hypertrophic osteoarthropathy |
| 1.1.1.141 | 15-hydroxyprostaglandin dehydrogenase (NAD+) |
medicine |
expression in nontumorigenic IEC-18 cells, with and without K-RasV12 and analysis of the ability of cells to form tumors in nu/nu mice. Transformed cells show increased 15-hydroxyprostaglandin dehydrogenase activity with decreased prostaglandin E2 and prostaglandin I2 levels, cyclooxygenase-2 and microsomal prostaglandin E synthase-1 expression and proliferation rates. Xenografts of cells expressing both the enzyme and K-RasV12 exhibit delayed tumor formation with negligible cyclooxygenase-2 and microsomal prostaglandin E synthase-1 expression and significantly decreased prostaglandin E2 levels. Tumors have decreased staining of the proliferative marker, Ki-67, and a significant increase in apoptosis in the central region of the tumor |
| 1.1.1.141 | 15-hydroxyprostaglandin dehydrogenase (NAD+) |
medicine |
in non-small-cell lung cancer cells, i.e. NSCLC cells, much lower expression of 15-hydroxyprostaglandin dehydrogenase in all histologic groups compared with healthy lung cell. Treatment with the epidermal growth factor receptor tyrosine kinase inhibitor erlotinib increases the expression of the enzyme in a subset of NSCLC lines |
| 1.1.1.141 | 15-hydroxyprostaglandin dehydrogenase (NAD+) |
medicine |
loss of 15-hydroxyprostaglandin expression in 65% of lung cancers. Enzyme acts as a tumor suppressor in lung cancer and is a direct downstream effector of hepatocyte nuclear factor 3beta |
| 1.1.1.141 | 15-hydroxyprostaglandin dehydrogenase (NAD+) |
medicine |
thiazolidinediones rosiglitazone and pioglitazone upregulate expression of 15-hydroxyprostaglandin dehydrogenase, involving peroxisome proliferator-activated receptor gamma. Upregulation results in reduced production of prostaglandin E2 and finally inhibition of lung cancer growth |
| 1.1.1.141 | 15-hydroxyprostaglandin dehydrogenase (NAD+) |
medicine |
up-regulation of cyclooxygenase-2 expression by pro-inflammatory cytokines is accompanied by down-regluation of 15-hydroxyprostaglandin dehydrogenase expression. Over-expression of cyclooxygenase-2 but not -1 also attenuates 15-hydroxyprostaglandin dehydrogenase expression. Similarly, overexpression of 15-hydroxyprostaglandin dehydrogenase inhibits interleukin 1beta-induced cyclooxygenase-2 expression and results in apoptosis. The levels of 15-hydroxyprostaglandin dehydrogenase expression in transfected cells correlate positively with those of mesenchymal markers, and negatively with those of epithelial markers |
| 1.1.1.141 | 15-hydroxyprostaglandin dehydrogenase (NAD+) |
medicine |
PGDH expression suppresses K-RasV12-mediated tumorigenesis in intestinal epithelial cells |
| 1.1.1.145 | 3beta-hydroxy-DELTA5-steroid dehydrogenase |
medicine |
3beta-hydroxysteroid dehydrogenase protein is present in the glandular epithelia and endothelia of blood vessels without difference in distribution pattern between normal and hyperplastic prostate |
| 1.1.1.145 | 3beta-hydroxy-DELTA5-steroid dehydrogenase |
medicine |
identification of 17 single nucleotide polymorphisms in isoforms Hsd3B1 and Hsd3B2. Analysis of polymorphism locations, alterations in nucleotide and amino acid sequences and frequencies of the polymorphisms. None of the polymorphisms alters cellular localization of the enzyme |
| 1.1.1.145 | 3beta-hydroxy-DELTA5-steroid dehydrogenase |
medicine |
identification of mutations L341P, W355stop, and R355stop, in HSD3B2 gene in neonates with classical 3beta-hydroxysteroid dehydrogenase type II deficiency and under-virilization |
| 1.1.1.145 | 3beta-hydroxy-DELTA5-steroid dehydrogenase |
medicine |
twenty-four hours after bilateral contusion of the medial prefrontal cortex, similar levels of 3beta-hydroxysteroid dehydrogenase mRNA expression are observed in males and pseudopregnant females in the non-injured group, with a significant decrease in the 3beta-hydroxysteroid dehydrogenase mRNA expression in the contusion site within the frontal cortex in both males and pseudopregnant females. In all other regions analyzed, 3beta-hydroxysteroid dehydrogenase mRNA expression is not affected by traumatic brain injury and there is no difference between males and pseudopregnant females |
| 1.1.1.145 | 3beta-hydroxy-DELTA5-steroid dehydrogenase |
medicine |
patient with inborn error of bile acid metabolism, that is, 3beta-hydroxy-DELTA5-C27-steroid dehydrogenase/isomerase deficienc, receives as treatment chenodeoxycholic acid and cholic acid, orally administered for 10 years. After the oral bile acid therapy, the biochemical liver function values and serum alanine aminotransferase and total bilirubin levels are maintained at normal levels, while the 3beta,7alpha-dihydroxy- and 3beta,7alpha,12alpha-trihydroxy-5-cholenoic acid levels significantly decrease. The patient gave birth to a healthy boy and a girl during the 10-year follow-up period |
| 1.1.1.145 | 3beta-hydroxy-DELTA5-steroid dehydrogenase |
medicine |
in a female patient with pseudo-hermaphrodism caused by an androgen-producing adrenocortical tumor. The activities of 3beta-hydroxysteroid dehydrogenase 2 and CYP17 in the tumor tissue are higher than those in the normal tissue, whereas the activity of 17beta?hydroxysteroid dehydrogenase 3 is lower. The mRNA levels of 3beta-hydroxysteroid dehydrogenase 2 and CYP17 are higher and the levels of 17beta-hydroxysteroid dehydrogenase 3 and LH/hCG receptor are lower in the tumor tissue compared with those of the normal tissue |
| 1.1.1.145 | 3beta-hydroxy-DELTA5-steroid dehydrogenase |
medicine |
in aldosterone-producing adenoma, isoform HSD3B2 mRNA is significantly more abundant than HSD3B1 mRNA, but only HSD3B1 mRNA significantly correlates with CYP11B2 (aldosterone synthase) mRNA and plasma aldosterone concentration of the patients. A significant correlation is also detected between isoform HSD3B1 and CYP11B2. In KCNJ5 mutated aldosterone-producing adenoma, CYP11B2 mRNA and HSD3B1 mRNA are significantly higher than those of wild-type aldosterone-producing adenoma |
| 1.1.1.145 | 3beta-hydroxy-DELTA5-steroid dehydrogenase |
medicine |
in aldosterone-producing adenoma, isoform HSD3B2 mRNA is significantly more abundant than HSD3B1 mRNA, but only HSD3B1 mRNA significantly correlates with CYP11B2 (aldosterone synthase) mRNA and plasma aldosterone concentration of the patients. Isoform HSD3B2 immunoreactivity is detected in the great majority of aldosterone-producing adenoma |
| 1.1.1.146 | 11beta-hydroxysteroid dehydrogenase |
medicine |
exposure of fetus to high levels of synthetic glucocorticoid may have long-lasting effects on the hippocampal expression of hypothalamic-pituitary-adrenal-related genes into adulthood |
| 1.1.1.146 | 11beta-hydroxysteroid dehydrogenase |
medicine |
high-fat diet-induced obesity is accompanied by increased visceral fat preadipocyte differentiation in wild-type but not 11beta-HSD1 -/- mice |
| 1.1.1.146 | 11beta-hydroxysteroid dehydrogenase |
medicine |
methionine restriction disrupts the lipogenic/lipolytic balance, contributing importantly to adiposity resistance in Fischer 344 rats |
| 1.1.1.146 | 11beta-hydroxysteroid dehydrogenase |
medicine |
treatment of rats with dehydroepiandrosterone induces a shift from isoform 11beta-HSD1 to 11beta-HSD2 expression, increasing conversion from active to inactive glucocorticoids |
| 1.1.1.146 | 11beta-hydroxysteroid dehydrogenase |
medicine |
activation of cortisol by 11beta-hydroxysteroid dehydrogenase in granulosa cells increases with follicle development but is significantly decreased in ovarion cysts |
| 1.1.1.146 | 11beta-hydroxysteroid dehydrogenase |
medicine |
changes in ovarian cortisol metabolism are accompanied by corresponding changes in the levels of paracrine inhibitors of 11beta-hydroxysteroid dehydrogenase within growing ovarian follicles and cysts |
| 1.1.1.146 | 11beta-hydroxysteroid dehydrogenase |
medicine |
differentiation of cells causes a strong increase in 11beta-hydroxysteroid dehydrogenase protein levels, occuring late in the differentiation protocol. Reduction of 11beta-hydroxysteroid dehydrogenase activity in 3T3-L1 fibroblasts, achieved by pharmacological inhibition or adenovirally mediated delivery of short hairpin RNA constructs, specifically blocks the ability of inactive glucocorticoids to drive 3T3-L1 differentiation. Even modest increases in exogenous 11beta-hydroxysteroid dehydrogenase expression in 3T3-L1 fibroblasts, to levels comparable with endogenous 1 11beta-hydroxysteroid dehydrogenase in differentiated 3T3-L1 adipocytes, are sufficient to block adipogenesis |
| 1.1.1.146 | 11beta-hydroxysteroid dehydrogenase |
medicine |
in morbidly obese patients, 11beta-hydroxysteroid dehydrogenase 1 mRNA levlels are higher in subcutaneous adipose tissue than in visceral adipose tissue. Subcutaneous adipose tissue 11beta-hydroxysteroid dehydrogenase 1 levels increase parallel according to body mass index category. No correlation between subcutaneous adipose tissue or visceral adipose tissue with fasting glucose, total cholesterol, triglycerides, and high-density lipoprotein |
| 1.1.1.146 | 11beta-hydroxysteroid dehydrogenase |
medicine |
inhibition of 11beta-hydroxysteroid dehydrogenase type 1 activity reduces the availability of cortisol to activate the glucocorticoid receptor, down regulates gluconeogenesis and thus reduces plasma glucose levels in cortisone-induced diabetic KK mice. In mice treated with 11beta-hydroxysteroid dehydrogenase type 1-antisense oligonucleotide, plasma blood glucose levels are significantly reduced by up to 54% upon induction of diabetes. Cortisol and other diabetes end products are also reduced, and hepatic 11beta-hydroxysteroid dehydrogenase type 1 mRNA is suppressed by up to 84% |
| 1.1.1.146 | 11beta-hydroxysteroid dehydrogenase |
medicine |
significant decrease in 11beta-hydroxysteroid dehydrogenase reductase activity in mice with glycogen storage disease type 1b, whereas mice with glycogen storage disease type 1a show a marked increase in enzyme activity |
| 1.1.1.146 | 11beta-hydroxysteroid dehydrogenase |
medicine |
significant decrease in 11beta-hydroxysteroid dehydrogenase reductase activity in patients with glycogen storage disease type 1b, whereas patients with glycogen storage disease type 1a show a marked increase in enzyme activity |
| 1.1.1.146 | 11beta-hydroxysteroid dehydrogenase |
medicine |
significant induction of 11beta-hydroxysteroid dehydrogenase type 1 gene expression and activity in patients with alcoholic liver disease during long-term and short-term abstinence from alcohol |
| 1.1.1.146 | 11beta-hydroxysteroid dehydrogenase |
medicine |
sucrose can promote increased 11beta-hydroxysteroid dehydrogenase type 1 and hexose-6-phosphate dehydrogenase message in mesenteric fat while concomitantly decreasing 11beta-dehydroxysteroid dehydrogenase message and increasing hexose-6-phosphate dehydrogenase message in liver |
| 1.1.1.146 | 11beta-hydroxysteroid dehydrogenase |
medicine |
11beta-HSD1 inhibition may be a valid target for the treatment of diabetes |
| 1.1.1.146 | 11beta-hydroxysteroid dehydrogenase |
medicine |
11beta-HSD1 is a drug target for treatment of insulin resistance, diabetes and cardiovascular disease |
| 1.1.1.146 | 11beta-hydroxysteroid dehydrogenase |
medicine |
inhibiting 11beta-HSD1 activity signifies a promising therapeutic strategy in the treatment of type 2 diabetes and related diseases |
| 1.1.1.146 | 11beta-hydroxysteroid dehydrogenase |
medicine |
measures of 11beta-HSD1 enzyme activity can predict the response of bone formation markers to therapeutic glucocorticoids |
| 1.1.1.146 | 11beta-hydroxysteroid dehydrogenase |
medicine |
at baseline, mRNA levels are similar in skeletal muscle of diabetic and control sugjects for 11beta-HSD1, 11beta-HSD2, and hexose-6-phosphate dehydrogenase. 11beta-HSD1 activity is reduced in diabetic subjects, while 11beta-HSD2 activity is increased. After application of dexamethasone, 11beta-HSD1 mRNA increases in both groups, whereas 11beta-HSD2 mRNA decreases. 11beta-HSD1 activity increases in diabetic subjects, but not in controls, whereas 11beta-HSD2 activity does not change in either group; mRNA levels are similar in diabetic and control subjects for 11beta-hydroxysteroid dehydrogenase 1 and 11beta-hydroxysteroid dehydrogenase 2. 11beta-Hydroxysteroid dehydrogenase 2-activity is higher in diabetic patients. After treatment with dexamethasone, 11beta-hydroxysteroid dehydrogenase 1-mRNA increases in both groups, whereas 11beta-hydroxysteroid dehydrogenase 2-mRNA decreases. 11beta-Hydroxysteroid dehydrogenase 1-activity increases in diabetic patients, but not in control, whereas 11beta-hydroxysteroid dehydrogenase 2-activity does not change in either group |
| 1.1.1.146 | 11beta-hydroxysteroid dehydrogenase |
medicine |
curcumin is inhibitory to isoform 11beta-HSD1 in intact cells with IC50 value of 5.79 microM, competitive. Treatment with curcumin reduces serum glucose, cholesterol, triglyceride, low density lipoprotein levels in high-fat-diet-induced obese rats |
| 1.1.1.146 | 11beta-hydroxysteroid dehydrogenase |
medicine |
the enzyme activity is inversely associated with urinary cortisol/cortisone levels and it is not associated with the subclinical hypercortisolism complications |
| 1.1.1.146 | 11beta-hydroxysteroid dehydrogenase |
medicine |
in breast cancer tissue, cholesterol epoxide hydrolase ChEH metabolizes cholesterol-5,6-epoxide into cholestane-3beta,5alpha,6beta-triol, which is transformed into the oncometabolite 6-oxo-cholestan-3beta,5alpha-diol by 11beta-hydroxysteroid-dehydrogenase 11betaHSD2. ChEH inhibition and 11betaHSD2 silencing inhibit 6-oxo-cholestan-3beta,5alpha-diol production and tumor growth. Patient breast cancer samples show significantly increased 6-oxocholestan-3beta,5alpha-diol levels and greater ChEH and 11betaHSD2 protein expression compared with normal tissues, and 11betaHSD2 and ChEH overexpression correlate with a higher risk of patient death |
| 1.1.1.149 | 20alpha-hydroxysteroid dehydrogenase |
medicine |
enzyme activity is 8-14fold higher in nontumorgenic strain MCF-10A than in tumorgenic strains MCF-7, MDA-MB-231, T-47D |
| 1.1.1.149 | 20alpha-hydroxysteroid dehydrogenase |
medicine |
diesel exhaust components are inhibitory on 20alpha-hydroxysteroid dehydrogenase in liver and lung cytosol, with little inhibition in kidney cytosol |
| 1.1.1.149 | 20alpha-hydroxysteroid dehydrogenase |
medicine |
targeted disruption of 20alpha-hydroxysteroid dehydrogenase gene results in complete loss of catalytic activity and lack of increase in serum concentrations of 20alpha-dihydroprogesterone during pseudopregnancy or pregnancy. The durations of the estrious cycle, pseudopregnancy, and pregnancy are significantly prolonged in the mutant mice, and the number of pups, espcially live pups, is markedly decreased |
| 1.1.1.153 | sepiapterin reductase (L-erythro-7,8-dihydrobiopterin forming) |
medicine |
polymorphisms of sepiapterin reductase gene alter promoter activity and may influence risk of bipolar disorder |
| 1.1.1.153 | sepiapterin reductase (L-erythro-7,8-dihydrobiopterin forming) |
medicine |
high sepiapterin reductase expression is significantly correlated to unfavorable neuroblastoma characteristics like high age at diagnosis, MYCN amplification, and high INSS stage. Sulfasalazine inhibits the growth of neuroblastoma cells in vitro, presumably due to the inhibition of sepiapterin reductase. The combination of sulfasalazine with alpha-difluoromethylornitine produces synergistic antiproliferative effects in vitro |
| 1.1.1.153 | sepiapterin reductase (L-erythro-7,8-dihydrobiopterin forming) |
medicine |
siRNA-mediated knock-down of sepiapterin reductase expression significantly reduces endogenous ornithine decarboxylase enzyme activity in neuroblastoma cells. In a cohort of 88 human neuroblastoma tumors, high SPR mRNA expression correlates significantly with poor survival prognosis |
| 1.1.1.153 | sepiapterin reductase (L-erythro-7,8-dihydrobiopterin forming) |
medicine |
the enzyme can regulate chronic pain and is a target for the development of analgesics |
| 1.1.1.178 | 3-hydroxy-2-methylbutyryl-CoA dehydrogenase |
medicine |
used for coupled enzyme assay to detect 3-oxothiolase deficiency in L-isoleucine degrading pathway |
| 1.1.1.178 | 3-hydroxy-2-methylbutyryl-CoA dehydrogenase |
medicine |
important in brain development and aging, SCHAD deficiency is an inherited defect in mitochondrial fatty acid oxidation, reported cases of SCHAD deficiency are actually due to a deficiency of HAD, abnormal levels may contribute to the pathogenesis of some neural disorders, potential target for intervention in Alzheimer's disease, Parkinson's disease, and an X-linked mental retardation |
| 1.1.1.178 | 3-hydroxy-2-methylbutyryl-CoA dehydrogenase |
medicine |
MHBD deficiency is a X-linked inborn error in the metabolism of isoleucine. Impairment of energy metabolism seems to play a role in the pathogenesis of MHBD deficiency. Males are more severely affected than females by MHBD deficiency. Male patients with MHBD deficiency before 10 months of age show neurodegeneration, while female carriers show a variety of symptoms (borderline learning difficulties to psychomotor and speech delay) |
| 1.1.1.178 | 3-hydroxy-2-methylbutyryl-CoA dehydrogenase |
medicine |
mutation p.D86G c.257A>G in exon 3 was diagnosed in one child with a very severe neonatal presentation, absent neurological development and death from progressive hypertrophic cardiomyopathy at the age of 7 months. MHBD activity in fibroblasts was only partially reduced to approximately 30% of normal. Mutation p.Q165H c.495A>C in exon 5 was diagnosed in a boy who presented with pre- and postnatal failure to thrive but normal cognitive and motor development. Neurological examination in this boy and two affected relatives has been entirely normal up to the present age of 8 years. There is no measurable MHBD activity in fibroblasts, molecular studies identified hemizygosity for the mutation. There is no correlation between enzyme activity and clinical presentation. HSD10 is essential for structural and functional integrity of mitochondria independently of its enzymatic activity. Impairment of this function in neural cells causes apoptotic cell death whilst the enzymatic activity of HSD10 is not required for cell survival |
| 1.1.1.178 | 3-hydroxy-2-methylbutyryl-CoA dehydrogenase |
medicine |
mutant loses most or all catalytic functions, and the males with this mutation have a severe clinical phenotype. The mutation eliminates several hydrogen bonds and reduces the van der Waals interaction between HSD10 subunits. The resulting disruption of protein structure impairs some if not all of the catalytic and non-enzymatic functions of HSD10. Eight patients with the R130C mutation show an average 2-methyl-3-hydroxybutyryl-CoA dehydrogenase activity of only 6% of the normal control level |
| 1.1.1.181 | cholest-5-ene-3beta,7alpha-diol 3beta-dehydrogenase |
medicine |
molecular analysis of 15 patients with neonatal cholestasis reveals 12 different mutations in HSD3B7 gene, 10 of them leading to complete inactivation of enzyme |
| 1.1.1.184 | carbonyl reductase (NADPH) |
medicine |
the single nucleotide polymorphisms in the human CBR1 gene generating the V88I and P131S mutations may prove to be clinically useful genetic biomarkers for guiding anthracycline therapy in cancer patients to minimize adverse effects |
| 1.1.1.184 | carbonyl reductase (NADPH) |
medicine |
antidepressant bupropion is reduced to erythrohydrobupropion and threohydrobupropion in liver. Menadione and 18beta-glycyrrhetinic acid are inhibitory |
| 1.1.1.188 | prostaglandin-F synthase |
medicine |
peri- and postimplantation conceptus. Prostaglandin H synthase and prostaglandin E synthase are down-regulated, and prostaglandin G synthase, prostaglandin F synthase and carbonyl reductase/prostaglandin 9-reductase are down-regulated in conceptuses during trophoblasic elongation. After initiation of implantation, expression of prostaglandin G synthase, prostaglandin F synthase and carbonyl reductase/prostaglandin 9-reductase in conceptuses increases and remains higher until days 24-25 of pregnancy |
| 1.1.1.188 | prostaglandin-F synthase |
medicine |
AKR1C3 likely plays important roles in the development of hormone-dependent, and possibly hormone-independent, breast cancer. It is highly expressed in normal breast and upregulated in breast cancer, where its expression is associated with a worse prognosis |
| 1.1.1.188 | prostaglandin-F synthase |
medicine |
lentiviral vector-mediated delivery of the prostaglandin F synthase (PGFS) gene resultes in long-term reduction of intraocular pressure and may eliminate off-target tissue effects and the need for daily topical PGF2alpha self-administration |
| 1.1.1.188 | prostaglandin-F synthase |
medicine |
estradiol causes a short-term increase in cyclooxygenase COX-2, which stimulates PGE2 and PGF2alpha secretion, and a subsequent decrease in COX-2 and an increase in cyclooxygenase COX-1 produce a high PGE2 : PGF2alpha ratio |
| 1.1.1.188 | prostaglandin-F synthase |
medicine |
mice infected with PGFS overexpressing parasites show an early parasitemia peak and higher heart muscle parasitic load |
| 1.1.1.188 | prostaglandin-F synthase |
medicine |
significantly higher expression of the prostaglandin-endoperoxide synthase PTGS 2 gene is detected in repeat-breeding cows with subclinical endometritis, whereas there is no significant difference in the expression of prostaglandin F2alpha synthase PTGFS and prostaglandin E2 microsomal synthase mPTGES 1 mRNAs between repeat-breeding cows with subclinical endometritis and those without it |
| 1.1.1.189 | prostaglandin-E2 9-reductase |
medicine |
peri- and postimplantation conceptus. Prostaglandin H synthase and prostaglandin E synthase are down-regulated, and prostaglandin G synthase, prostaglandin F synthase and carbonyl reductase/prostaglandin 9-reductase are down-regulated in conceptuses during trophoblasic elongation. After initiation of implantation, expression of prostaglandin G synthase, prostaglandin F synthase and carbonyl reductase/prostaglandin 9-reductase in conceptuses increases and remains higher until days 24-25 of pregnancy |
| 1.1.1.205 | IMP dehydrogenase |
medicine |
the enzyme is a major therapeutic target |
| 1.1.1.205 | IMP dehydrogenase |
medicine |
the enzyme is a target for immunosuppression therapy suing mycophenolic acid, prodrug is mycophenolate mofetil |
| 1.1.1.205 | IMP dehydrogenase |
medicine |
changes in expression of IMPDH1 and IMPDH2 in patient samples after initiation of an immunosuppressive regimen that includes calcineurin inhibitors, mycophenolate mofetil, and stroids |
| 1.1.1.205 | IMP dehydrogenase |
medicine |
in patients with kidney transplantation, type I IMPDH activity and gene expression increases during the first three months following transplantation and reaches its maximal level during acute rejection episodes, whereas type II mRNA is stable. Patients with a prolonged mycophenolate mofetil treatment exhibit an increase in the induction potency of both IMPDH activity and gene expression. Measurement of IMPDH mRNAs may provide reliable information to predict acute rejection |
| 1.1.1.205 | IMP dehydrogenase |
medicine |
in renal transplant patients, transplantation and initiation of immunosuppressive therapy is associated with increased isoform IMPDH1 and decreased IMPDH2 expression. In CD4+ cells, however, IMPDH2 expression increases. Two weeks posttransplant, mycophenolic acid-treated patients display elevated IMPDH1 and IMPDH2 expression in reticulocyte. Patients with acute rejection during follow-up demonstrate higher IMPDH2 expression in Cd4+ cells pretransplant than nonrejecting patients |
| 1.1.1.205 | IMP dehydrogenase |
medicine |
in stable kidney transplant recipients, inosine 5'-phosphate dehydrogenase activity is 17.5 versus 46.6 nmol XMP/h/microgramm protein in diabetic and nondiabetic patients, respectively. Activity in diabetic patients is significantly lower irrespective of concomitant therapy with cyclosporine or tacrolimus and independent of the bound or unbound mycophenolic acid |
| 1.1.1.205 | IMP dehydrogenase |
medicine |
study on inosine 5'-phosphate activity in thiopurine-treated patients with inflammatory bowel disease. Negative correlation between inosine 5'-phosphate dehydrogenase activity and dose-normalized 6-methylthioinosine concentrations, no evident correlation to 6-thioguanine nucleotide or the 6-methylthioinosine/6-thioguanine nucleotide ratio |
| 1.1.1.205 | IMP dehydrogenase |
medicine |
a poorer response to mycophenolic acid therapy in some individuals may be due to the presence of the rs11706052 polymorphism |
| 1.1.1.205 | IMP dehydrogenase |
medicine |
IMPDH activity in erythrocytes may be useful indicator of short-term immunosuppression and long-term exposure of the immunosuppressant mycophenolic acid |
| 1.1.1.205 | IMP dehydrogenase |
medicine |
inhibition of IMPDH may represent a novel strategy to reduce adipose tissue mass |
| 1.1.1.205 | IMP dehydrogenase |
medicine |
modified method for the measurement of IMPDH activity, that is less labor-intensive, more robust in general, and capable of yielding a better reproducibility, which can be used reliably in multicenter trials and in longitudinal studies to evaluate the additional value of any pharmacodynamic monitoring among a diversity of patients treated with mycophenolic acid |
| 1.1.1.205 | IMP dehydrogenase |
medicine |
study on a target range for inosine 5'-monophosphate dehydrogenase activity in maintenance therapy with tacrolimus, on patients with renal transplants and healthy volunteers. Inosine 5'-monophosphate dehydrogenase activity in cell lysates can be reliably determined indirectly by measuring xanthosine 5'-monophophate in cell lysates supplemented with IMP and beta-nicotine adenine dinucleotide using an HPLC method. Cell lysates show a 5-6 nmol /l IC50 mycophenolic acid concentration. Tacrolimus, cyclosporine and prednisolone do not affect IMPDH activity. The peak mycophenolic acid concentration is achieved at 1 h after dosing. IMPDH activity decreases to 75% and 67% at 1 and 2 h after dosing respectively |
| 1.1.1.205 | IMP dehydrogenase |
medicine |
MPDH inhibitors are used as immunosuppressive, antiviral, and anticancer agents |
| 1.1.1.211 | long-chain-3-hydroxyacyl-CoA dehydrogenase |
medicine |
inverse correlation between enzyme activity and gestational age during second and third trimester of pregnancy, involvement of enzyme defects in a subset of pregnancy complications |
| 1.1.1.211 | long-chain-3-hydroxyacyl-CoA dehydrogenase |
medicine |
treatment of patients with defects in enzymic activity, provision of odd-chain species of medium fatty acids decreases the build-up of long-chain fatty acid oxidation intermediates in an in vitro skin fibroblast model |
| 1.1.1.211 | long-chain-3-hydroxyacyl-CoA dehydrogenase |
medicine |
case study on a Korean male newborn who presented with severe lactic acidosis, seizures, and heart failure and an increase of 3-hydroxy species: 3-OH-palmitoylcarnitine, at 0.44 nmol/ml, 3-hydroxylinoleylcarnitine, at 0.31 nmol/ml, and 3-hydroxyoleylcarnitine, at 0.51 nmol/ml. The findings suggest either long-chain 3-hydroxyacyl-coA dehydrogenase deficiency or complete MTP deficiency. The patient was a compound heterozygote for c.358dupT and c.1364T>G mutations. Although the patient was treated by reduction of glucose administration and supplementation of a medium-chain triglyceride-based diet with L-carnitine, he died 2 months after birth due to advanced cardiac failure |
| 1.1.1.213 | 3alpha-hydroxysteroid 3-dehydrogenase (Re-specific) |
medicine |
exposure of HCT-15 cells to cisplatin results in aquisition of cisplatin resistance and concomitant induction of isoform AKR1C3 and aldo-keto reductase AKR1C1 expression. The resistance lowers the sensitivity toward cellular damages evoked by oxidative stress-derived aldehydes, 4-hydroxy-2-nonenal and 4-oxo-2-nonenal that are detoxified by AKR1C1 and AKR1C3. Overexpression of AKR1C1 or AKR1C3 in the parental HCT15 cells mitigates the cytotoxicity of the aldehydes and cisplatin. Knockdown of both AKR1C1 and AKR1C3 in the resistant cells or treatment of the cells with specific inhibitors of the aldo-keto reductases increases the sensitivity to ciplatin toxicity. Pretreatment of the resistant cells with proteasome inhibitor Z-Leu-Leu-Leu-al augments the cisplatin sensitization elicited by aldo-keto reductase inhibitors |
| 1.1.1.213 | 3alpha-hydroxysteroid 3-dehydrogenase (Re-specific) |
medicine |
positive isoform AKR1C3 immunoreactivity is extensively present in both adenocarcinoma and squamous cell carcinoma arising from the lung and the gastroesophageal junction. Isoform AKR1C3 immunoreactivity is absent in small cell carcinoma of the lung |
