نتایج جستجو برای: glucocerebrosidase
تعداد نتایج: 825 فیلتر نتایج به سال:
Gaucher, the most prevalent lysosomal disorder, is an autosomal recessive inherited disorder due to a deficiency of glucocerebrosidase. Glucocerebrosidase deficiency leads to the accumulation of glucosylceramide primarily in cells of mononuclear-macrophage lineage. Clinical alterations are visceral, hematological, and skeletal. Bone disorder in Gaucher disease produces defects on bone metabolis...
A 27-year-old womanwas admitted for further examination of thrombocytopenia. Symptomswere absent, but physical examination demonstrated hepatosplenomegaly without neurological abnormalities. Bone marrow examination revealed many Gaucher cells, and glucocerebrosidase activity from cultured skin fibroblasts was markedly reduced. A 1448C (L444P) mutation was detected on one allele of the glucocere...
Recently, the development of Parkinson’s disease (PD) has Background: been linked to a number of genetic risk factors, of which the most common is glucocerebrosidase (GBA) mutations. We investigated PD and Gaucher Disease (GD) patient derived skin Methods: fibroblasts using biochemistry assays. PD patient derived skin fibroblasts have normal glucocerebrosidase Results: (GCase) activity, whilst ...
Gaucher disease is caused by inherited deficiency of lysosomal glucocerebrosidase. Proteome analysis of laser-dissected splenic Gaucher cells revealed increased amounts of glycoprotein nonmetastatic melanoma protein B (gpNMB). Plasma gpNMB was also elevated, correlating with chitotriosidase and CCL18, which are established markers for human Gaucher cells. In Gaucher mice, gpNMB is also produced...
Recently, the development of Parkinson’s disease (PD) has Background: been linked to a number of genetic risk factors, of which the most common is glucocerebrosidase (GBA) mutations. We investigated PD and Gaucher Disease (GD) patient derived skin Methods: fibroblasts using biochemistry assays. PD patient derived skin fibroblasts have normal glucocerebrosidase Results: (GCase) activity, whilst ...
INTRODUCTION Gaucher disease is the first lysosomal disease to benefit from enzyme replacement therapy, thus serving as model for numerous other lysosomal diseases. Alglucerase was the first glucocerebrosidase purified from placental extracts, and this was then replaced by imiglucerase - a Chinese hamster ovary cell-derived glucocerebrosidase. AIM The aim was to review the evidence underlying...
Background: Recently, the development of Parkinson's disease (PD) has been linked to a number of genetic risk factors, of which the most common is glucocerebrosidase (GBA) mutations. Methods: We investigated PD and Gaucher Disease (GD) patient derived skin fibroblasts using biochemistry assays. Results: PD patient derived skin fibroblasts have normal glucocerebrosidase (GCase) activity, whilst ...
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