Background: Gaucher's disease is a rare Lysosomal Storage Disorder (LSD) caused by the accumulation of glucosylceramide/glucocerebroside. There are several types Gaucher, such as non-neuronopathic, infantile-onset neuronopathic and juvenile-onset neuronopathic. This case study aims to evaluate in 4-year-old child at Sanglah General Hospital, Bali, Indonesia.Case Presentation: A 4-years-old admi...

An extracellular beta-glucosidase from Thermoascus aurantiacus was purified to homogeneity by DEAE-Sepharose, Ultrogel AcA 44 and Mono-P column chromatography. The enzyme was a homotrimer, with a monomer molecular mass of 120 kDa; only the trimer was optimally active at 80 degrees C and at pH 4.5. At 90 degrees C, the enzyme showed 70% of its optimal activity. It was stable at pH 5.2 and at tem...

The gene encoding for an extremely thermostable oligo-1,6-glucosidase from Bacillus thermoglucosidasius KP1006 (DSM2542, obligate thermophile) was sequenced. The amino acid sequence deduced from the nucleotide sequence of the gene (1686 base pairs) corresponded to a protein of 562 amino acid residues with a Mr of 66,502. Its predicted amino acid composition, Mr, and N-terminal sequence of 12 re...

We used immunoelectron microscopy to localize glucosidase II in pig hepatocytes. The enzyme trims the two inner alpha 1,3-linked glucoses from N-linked oligosaccharide precursor chains of glycoproteins. Immunoreactive enzyme was concentrated in rough (RER) and smooth (SER) endoplasmic reticulum but not detectable in Golgi apparatus cisternae. Transitional elements of RER and smooth membraned st...

1. The activities of lysosomal enzymes in the cortexes and medullas and the principal subcellular fractions of rat kidney were measured. 2. A method is described for the isolation of rat-kidney lysosomes and a detailed analysis of the enzymic composition of the lysosomes is reported. Enzyme analysis of the other principal subcellular fractions is included for comparison. 3. Studies of the distr...

Glycogen storage disease (GSD) type III is caused by deficiency of the enzyme amylo-1,6 glucosidase (debranching enzyme) leading to the storage of an abnormal glycogen with short outer chains called limit dextrins(l). Clinical manifestations are usually due to decreased hepatic glycogenolysis and occasionally due to a myopathy associated with an increase in muscle glycogen. We report a case of ...

of glucosylceramide and glucosylsphingosine in lysosomes of tissue macrophages and consequently leads to multisystemic manifestations. Clinical symptoms of GD1 include hepatosplenomegaly, anemia, thrombocytopenia, pulmonary diseases, immune dysfunction and bone disease. The diagnosis of GD1 is confirmed by demonstrating decreased activity of acid β-glucosidase in leukocytes and/or by molecular ...

High concentrations of red blood cell glycogen were visualized by el.ctron microscopy and demonstrated biochemically in amylo1 ,6-glucosidaseand phosphorylase-deficient red blood cells. Glycogen concentration decreased as a function of cell age. Similar incorporation rates of ‘4C-U-glucose into glycogen were observed in amylo-1 ,6-glucosidase-deflcient and normal erythrocytes, characterized by ...

AIM/INTRODUCTION To assess the overall safety and efficacy of lixisenatide in combination with background oral antidiabetic drug treatment in Japanese patients with type 2 diabetes, as required by Japanese guidelines. MATERIALS AND METHODS A phase 3, multicenter, uncontrolled, open-label, four-arm, parallel-group study of Japanese outpatients with type 2 diabetes was carried out; patients rec...

in an endeavor to find a novel series of antihyperglycemic agents, new benzimidazole and pyrimidine derivatives were successfully synthesized efficiently in high yield with high purity, starting from amino acids in the presence of phosphorus oxychloride (pocl3). the synthesized compounds were identified by 1h-nmr, 13c-nmr, ft-ir spectroscopic techniques and elemental analysis. all products were...