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1,262 Possible Causes for (NAD, ), 3alpha(17beta) hydroxysteroid, dehydrogenase

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  • Atypical HSD10 Disease

    NAD Please wait a moment until the data is sorted.[] […] dehydrogenases (HSDs) reveal multiple specificities in bile acid and steroid hormone metabolism: characterization of multifunctional 3alpha/7alpha/7beta/17beta/20beta/21-[] Clinical variability in 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency . Ann. Neurol. 51 , 656–659 (2002). 11.[] […] µM for chenodeoxycholic acid (in the presence of 1 mM NAD, at pH 9.3 and 25 degrees Celsius) K M 1.7 µM for dehydrocorticosterone (in the presence of 1 mM NAD, at pH 9.3[]

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  • Sjogren-Larsson Syndrome

    The definitive test for SLS is considered the measurement of FALDH or fatty alcohol: NAD oxidoreductase in cultured skin fibroblasts.[] Studies of mutations in SLS should prove useful for understanding structure-function correlations in FALDH and other aldehyde dehydrogenase proteins.[] Biochemical studies have pinpointed the pathogenesis resulting in the deficiency of the fatty aldehyde dehydrogenase (FALDH) component of the fatty alcohol NAD oxidoreductase[] METHODS: FALDH activity was determined by incubating fibroblast homogenates with omega-hydroxy-C22:0 in the presence of NAD( ).[]

    Missing: ) 3alpha(17beta) hydroxysteroid
  • Influenza

    The main statistical model used was as follows: \[\mathrm{NAD}{ }\mathrm{{\alpha}}{ }\mathrm{{\beta}}_{\mathrm{H}3}\mathrm{H}3{ }\mathrm{{\beta}}_{\mathrm{H}1}\mathrm{H}1{[] […] lymphopenia, elevated amino-transaminases, thrombocytopenia, prolonged prothrombin time and activated partial thromboplastin time, increased D-Dimer, increased serum lactate dehydrogenase[] […] lymphopenia, elevated amino‐transaminases, thrombocytopenia, prolonged prothrombin time and activated partial thromboplastin time, increased D‐Dimer, increased serum lactate dehydrogenase[] The importance of IMP dehydrogenase inhibition in the broad spectrum antiviral activity of ribavirin and selenazofurin .[]

    Missing: ) 3alpha(17beta) hydroxysteroid
  • 3-Phosphoglycerate Dehydrogenase Deficiency

    SARS GARS L-Cysteine 3- Phosphoglyceric acid Pyruvic acid Pyruvic acid Pyruvic acid Dissipation L-Serine Aminoacetone Oxygen Water Ammonia Hydrogen peroxide Pyruvaldehyde NAD[] Abstract 3-phosphoglycerate dehydrogenase deficiency is a severe but treatable disorder of serine synthesis, first described in 1996 (Jaeken et al. 1996a).[] Abstract 3-Phosphoglycerate dehydrogenase (3-PGDH) deficiency is considered to be a rare cause of congenital microcephaly, infantile onset of intractable seizures and severe[] Abstract 3-phosphoglycerate-dehydrogenase (3-PGDH) deficiency is an L-serine biosynthesis disorder, characterised by congenital microcephaly, severe psychomotor retardation[]

    Missing: ) 3alpha(17beta) hydroxysteroid
  • Malignant Neoplasm

    Vaziri H, Dessain SK, Ng Eaton E, Imai SI, Frye RA, et al. (2001) hSIR2(SIRT1) functions as an NAD-dependent p53 deacetylase. Cell 107: 149–159.[] Age, white blood count, and serum albumin, alkaline phosphatase, and lactate dehydrogenase levels were selected as the best predictors.[] […] stratification: The FL International Prognostic Index prognostic model for FL uses five independent predictors of inferior survival: age 60 years, hemoglobin 12 g/dL, serum lactate dehydrogenase[] Expression cloning and characterization of human 17ß-hydroxysteroid dehydrogenase type 2, a microsomal enzyme possessing 20α-hydroxysteroid dehydrogenase activity.[]

    Missing: ) 3alpha(17beta) hydroxysteroid
  • Aldehyde

    Here we report the first crystal structure of human ALDH1A3 complexed with NAD and the product all-trans retinoic acid (REA).[] These enzymes include alcohol dehydrogenase (ADH) and aldehyde dehydrogenase (ALDH), which play a significant role in the metabolism of many biological substances and exist[] Furthermore, HPLC-MS/MS and computational modeling elucidate a potential role for acetyl-Lys369 on ALDH2 in perturbing normal β-nicotinamide adenine dinucleotide (NAD ) cofactor[] Abstract Aldehyde dehydrogenase 7A1 (ALDH7A1) catalyzes the terminal step of lysine catabolism, the NAD -dependent oxidation of α-aminoadipate semialdehyde to α-aminoadipate[]

    Missing: ) 3alpha(17beta) hydroxysteroid
  • Congenital Lactic Acidosis

    […] elevated plasma alanine, who had a moderate to profound decrease in the ability of mitochondria from four organs to oxidize pyruvate, malate plus glutamate, citrate, and other NAD[] Abstract We report an inborn error of the tricarboxylic acid cycle, alpha-ketoglutarate dehydrogenase deficiency, in three siblings with hypotonia, metabolic acidosis, and[] CO 2 NADH H 2 O Citric acid CoA Isocitric acid NAD CO 2 NADH H NAD CoA Succinyl-CoA NADH H CO 2 P i GDP CoA GTP L-Malic acid H 2 O NAD NADH H ATP HCO 3 - ADP P i Q FAD QH[] One cause of congenital lactic acidosis is a mutation in the E1 alpha-subunit of the pyruvate dehydrogenase multienzyme complex.[]

    Missing: ) 3alpha(17beta) hydroxysteroid
  • Xanthinuria

    Abstract Xanthine oxidoreductase (XOR) catalyzes the conversion of hypoxanthine to xanthine and xanthine to uric acid with concomitant reduction of either NAD or O(2).[] The duodenal mucosa from the subject had no xanthine dehydrogenase protein while the mRNA level was not reduced.[] Reversible conversion of xanthine dehydrogenase into oxidase occurs by sulfhydryl group oxidation, which results in loss of the NAD binding site.[] Abstract Xanthinuria due to xanthine dehydrogenase (XDH) deficiency is a rare genetic disorder characterized by hypouricemia and the accumulation of xanthine in the urine.[]

    Missing: ) 3alpha(17beta) hydroxysteroid
  • 2-Hydroxyglutaric Aciduria

    (p.K136SfsTer3) and c.699_c700 ins A (p.D234RfsTer42), in the L-2-hydroxyglutarate dehydrogenase (L2HGDH) gene, leading to premature termination codons and truncated FAD/NAD[] […] mutations in the d-2-hydroxyglutarate dehydrogenase gene cause d-2-hydroxyglutaric aciduria.[] […] potential of the 2-hydroxyglutarate/alpha-ketoglutarate couple is such that L-2-hydroxyglutarate could potentially be produced through the reduction of alpha-ketoglutarate by a NAD[] Interestingly, duranin has high homology with other oxidoreductases using either NAD or FAD as hydrogen acceptor.[]

    Missing: ) 3alpha(17beta) hydroxysteroid
  • Apparent Mineralocorticoid Excess

    Two isoforms of human 11 beta-HSD have been described, but it is the NAD-dependent type 2 isoform (11 beta-HSD2), first characterised in placental tissue, that is expressed[] CONVERSION OF CORTISOL TO CORTISONE: 11 beta-Hydroxysteroid dehydrogenase (11 beta-HSD) is a microsomal enzyme complex which, in humans, catalyses the interconversion between[] A second NAD-dependent isoenzyme is present in kidney and placenta and catalyzes dehydrogenation only.[] NAD -dependent isoform of 11 beta hydroxysteroid dehydrogenase: cloning and characterization of cDNA from sheep kidney. J Biol Chem . 1994 ; 269 :25959-25962.[]

    Missing: ) 3alpha(17beta) hydroxysteroid