نتایج جستجو برای: glucocerebrosidase
تعداد نتایج: 825 فیلتر نتایج به سال:
background gaucher’s disease (g.d.) is an autosomal recessive disorder resulting from the accumulation of glucocerebrosidase in the cells of macrophage-monocyte system as a result of a deficiency in lysosomal glucocerebrosidase. this enzyme is encoded by a gene on chromosome-1. here we report a case of gaucher’s disease .g.d is rare in yazd. case reports we reported a patient that presented wit...
Mutations in the GBA1 gene are associated with increased risk of Parkinson's disease, and the protein produced by the gene, glucocerebrosidase, interacts with α-synuclein, the protein at the center of the disease etiology. One possibility is that the mutations disrupt a beneficial interaction between the proteins, and a beneficial interaction would imply that the proteins have coevolved. To exp...
UNLABELLED Among the known genetic risk factors for Parkinson disease, mutations in GBA1, the gene responsible for the lysosomal disorder Gaucher disease, are the most common. This genetic link has directed attention to the role of the lysosome in the pathogenesis of parkinsonism. To study how glucocerebrosidase impacts parkinsonism and to evaluate new therapeutics, we generated induced human p...
Mutations in the gene encoding beta-glucocerebrosidase, a lysosomal degrading enzyme, have recently been associated with the development of Parkinson disease. Here we report the results found in a cohort of Portuguese Parkinson disease patients and healthy age-matched controls for mutations in the aforementioned gene. This screening was accomplished by sequencing the complete open-reading frame...
Gaucher disease is an autosomal recessive genetic caused by a deficiency in lysosomal enzyme, beta glucocerebrosidase. This characterized deposits of glucosylceramide liver, spleen and bone marrow cells. The presentation MG very heterogeneous, ranging from the asymptomatic form to lethal form. Neurological forms (types 2 3) are present only 5% patients with less frequent than non-neurological (...
Glucocerebrosidase (GBA) mutations have been associated with Parkinson's disease in numerous studies. However, it is unknown whether the increased risk of Parkinson's disease in GBA carriers is due to a loss of glucocerebrosidase enzymatic activity. We measured glucocerebrosidase enzymatic activity in dried blood spots in patients with Parkinson's disease (n = 517) and controls (n = 252) with a...
Background With pathway-specific trials in PD associated with variants the glucocerebrosidase gene (PDGBA) under way, we need markers that confirm impact of genetic patient-derived biofluids order to allow patient stratification merely based on genetics and might serve as biochemical read-out for target engagement. Objective To explore GBA-pathway-specific biomarker profiles cross-sectionally (...
Glucocerebrosidase is a lysosomal hydrolase involved in the breakdown of glucosylceramide. Gaucher disease, a recessive lysosomal storage disorder, is caused by mutations in the gene GBA1 Dysfunctional glucocerebrosidase leads to accumulation of glucosylceramide and glycosylsphingosine in various cell types and organs. Mutations in GBA1 are also a common genetic risk factor for Parkinson diseas...
Gaucher disease is a heterogeneous disease characterized by impaired activity of the lysosomal enzyme glucocerebrosidase. This heterogeneity is attributed to a large number of mutations in the corresponding gene. In order to test the biochemical properties of some mutations prevalent among Israeli populations, the normal human glucocerebrosidase cDNA and cDNAs carrying mutations N370S, L444P, D...
Mutations in the human glucocerebrosidase gene cause Gaucher disease. A cDNA clone containing the entire human glucocerebrosidase coding region from normal cells has been isolated using lambda gt11 expression libraries. The complete nucleotide sequence, a restriction map, and a hydropathy profile are presented. Hybridization to chromosome-specific DNA localizes the human glucocerebrosidase gene...
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