Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:3.2.1.20 (alpha-glucosidase)
 4,237 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

1,2:5,6-Di-O-isopropylidene-D-glucitol was converted via its 1,4-dimethanesulfonate into the 1-azido-4-methanesulfonate which, after deprotection and treatment with barium hydroxide, afforded a 9:1 mixture of the corresponding 3,4- and 4,5-anhydro derivatives. Reduction of this mixture by transfer hydrogenation using ammonium formate in methanol and Pd/C as catalyst afforded 1,4-dideoxy-1,4-imino-D-glucitol (4), the structure of which was proved after acetylation by 1H-n.m.r. spectroscopy. Compound 4 is a potent alpha-D-glucosidase inhibitor (Ki 7 X 10(-4)M) and a less potent beta-D-glucosidase inhibitor (Ki 1.25 X 10(-4)M), and inhibits beta-D-galactosidase non-competitively.
 ...
PMID:Synthesis of 1,4-dideoxy-1,4-imino-D-glucitol, a glucosidase inhibitor. 309 67

Diarrhoea is a common sequel to vagotomy and pyloroplasty but its cause is unknown. One of our patients who developed this complication had an abnormal lactose barium meal and responded well to a lactose-free diet. This led us to make a systematic study of disaccharidase activity in the small intestine in patients with diarrhoea following vagotomy and pyloroplasty. The small-intestinal disaccharidases have been estimated in jejunal biopsy specimens taken from 23 patients suffering from persistent diarrhoea, either continuous or episodic, after vagotomy and pyloroplasty. The disaccharidase values were normal in all but one of these patients. This patient showed hypolactasia but the sucrase and maltase levels were normal. The jejunal biopsy specimen taken from this patient showed a convoluted pattern under the dissecting microscope and severe partial villous atrophy under the light microscope. A repeat jejunal biopsy taken 20 cm beyond the duodeno-jejunal flexure showed similar appearances and also had a low level of lactase. However, two lactose tolerance tests and a lactose barium meal yielded normal results, suggesting that the low level of lactase in the upper jejunum was not a limiting factor in lactose absorption. The finding of one example of a low lactase level among 23 postvagotomy patients corresponds with what is being found in a study of normal subjects at present in progress. In effect, almost all patients with persistent diarrhoea after vagotomy and pyloroplasty have normal small-intestinal disaccharidase activity.
 ...
PMID:Disaccharidase levels in the small intestine in patients with diarrhoea following vagotomy and pyloroplasty. 554 54

Acid alpha-glucosidase, the product of a housekeeping gene, is a lysosomal enzyme that degrades glycogen. A deficiency of this enzyme is responsible for a recessively inherited myopathy and cardiomyopathy, glycogenesis type II. We have previously demonstrated that the human acid alpha-glucosidase gene expression is regulated by a silencer within intron 1, which is located in the 5'-untranslated region. In this study, we have used deletion analysis, electrophoretic mobility shift assay, and footprint analysis to further localize the silencer to a 25-base pair element. The repressive effect on the TK promoter was about 50% in both orientations in expression plasmid, and two transcriptional factors were identified with antibodies binding specifically to the element. Mutagenesis and functional analyses of the element demonstrated that the mammalian homologue 1 of Drosophila hairy and Enhancer of split (Hes-1) binding to an E box (CACGCG) and global transcription factor-YY1 binding to its core site function as a transcriptional repressor. Furthermore, the overexpression of Hes-1 significantly enhanced the repressive effect of the silencer element. The data should be helpful in understanding the expression and regulation of the human acid alpha-glucosidase gene as well as other lysosomal enzyme genes.
 ...
PMID:Transcriptional regulation of the human acid alpha-glucosidase gene. Identification of a repressor element and its transcription factors Hes-1 and YY1. 1103 50