نتایج جستجو برای: glucocerebrosidase
تعداد نتایج: 825 فیلتر نتایج به سال:
Gaucher's disease is a rare, inherited autosomal recessive metabolic disorder due to deficiency of enzyme Glucocerebrosidase resulting in deposition glucosylceramide. Deposition glucosylceramide different organs causes dysfunction and responsible for specific systemic symptoms signs. In the present cases, first case was 24-year-old female who presented with severe weakness abdominal fullness ma...
OBJECTIVE To evaluate the frequency of glucocerebrosidase (GBA) mutations in cases and controls enrolled in the Genetic Epidemiology of Parkinson's Disease (GEPD) study. METHODS We sequenced all exons of the GBA gene in 278 Parkinson disease (PD) cases and 179 controls enrolled in GEPD, with a wide range of age at onset (AAO), and that included a subset of 178 Jewish cases and 85 Jewish contr...
Small molecule chaperones are a promising therapeutic approach for the Lysosomal Storage Disorders (LSDs). Here, we report the discovery of a new series of non-iminosugar glucocerebrosidase inhibitors with chaperone capacity, and describe their structure activity relationship (SAR), selectivity, cell activity phamacokinetics.
Measurements of the activities of lysosomal enzymes in cerebrospinal fluid have recently been proposed as putative biomarkers for Parkinson's disease and other synucleinopathies. To define the operating procedures useful for ensuring the reliability of these measurements, we analyzed several pre-analytical factors that may influence the activity of β-glucocerebrosidase, α-mannosidase, β-mannosi...
β-Glucocerebrosidase deficiency leads to Gaucher disease and is a potential marker of Parkinson's disease. We have identified N-octyl conduritol aziridine as a potent and specific covalent inactivator of GBA1 in living cells. This compound is a promising lead towards a positron emission tomography probe intended to image GBA1 activity.
Abbreviations: TEWL: Transepidermal Water Loss; AD: Atopic Dermatitis; SC: Stratum Corneum; HC: Healthy Control; PiCl: Picryl Chloride; MA: House Dust Mite Antigens; SM: Sphingomyelin; GCer: Glucosylceramide; BGCase: Beta-Glucocerebrosidase; SMase: Acid Sphingomyelinase; CBE: Conduritol B Epoxide; DSP: Despiramine Hydrochloride; PDMP: 1-Phenyl-2-Decanoylamino-3-Morpholino-1Propanol; SPT: Serine...
Gaucher disease (GD) is caused by a deficiency of beta-glucocerebrosidase activity mainly due to mutations in the gene coding for the enzyme. More than 100 mutations have been identified to date and their frequencies have been established in several populations, including Ashkenazi Jews, among whom the disease is particularly prevalent. In order to study the molecular pathology of the disease i...
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