Running title : Plasma glucosylsphingosine in Gaucher disease
نویسندگان
چکیده
Department of Medical Biochemistry, Academic Medical Center, Amsterdam, The Netherlands Department of Internal Medicine Endocrinology and Metabolism, Academic Medical Center, Amsterdam, The Netherlands Leiden Institute of Chemistry, Leiden University, Leiden, The Netherlands Department of Radiology, Academic Medical Center, Amsterdam, The Netherlands Department of Pediatrics, Academic Medical Center, Amsterdam, The Netherlands Department of Metabolic Diseases, Children's Memorial Health Institute, Warsaw, Poland Department of Pediatric Gastroenterology & Hepatology, Yale University School of Medicine, New Haven, USA
منابع مشابه
Biochemical response to substrate reduction therapy versus enzyme replacement therapy in Gaucher disease type 1 patients
BACKGROUND We retrospectively compared biochemical responses in type 1 Gaucher disease patients to treatment with glycosphingolipid synthesis inhibitors miglustat and eliglustat and ERT. METHODS Seventeen GD1 patients were included (n = 6 eliglustat, (two switched from ERT), n = 9 miglustat (seven switchers), n = 4 ERT (median dose 60U/kg/m). Plasma protein markers reflecting disease burden (...
متن کاملGlucosylsphingosine Is a Highly Sensitive and Specific Biomarker for Primary Diagnostic and Follow-Up Monitoring in Gaucher Disease in a Non-Jewish, Caucasian Cohort of Gaucher Disease Patients
BACKGROUND Gaucher disease (GD) is the most common lysosomal storage disorder (LSD). Based on a deficient β-glucocerebrosidase it leads to an accumulation of glucosylceramide. Standard diagnostic procedures include measurement of enzyme activity, genetic testing as well as analysis of chitotriosidase and CCL18/PARC as biomarkers. Even though chitotriosidase is the most well-established biomarke...
متن کاملSubstrate Compositional Variation with Tissue/Region and Gba1 Mutations in Mouse Models–Implications for Gaucher Disease
Gaucher disease results from GBA1 mutations that lead to defective acid β-glucosidase (GCase) mediated cleavage of glucosylceramide (GC) and glucosylsphingosine as well as heterogeneous manifestations in the viscera and CNS. The mutation, tissue, and age-dependent accumulations of different GC species were characterized in mice with Gba1 missense mutations alone or in combination with isolated ...
متن کاملAction myoclonus-renal failure syndrome: diagnostic applications of activity-based probes and lipid analysis
Lysosomal integral membrane protein-2 (LIMP2) mediates trafficking of glucocerebrosidase (GBA) to lysosomes. Deficiency of LIMP2 causes action myoclonus-renal failure syndrome (AMRF). LIMP2-deficient fibroblasts virtually lack GBA like the cells of patients with Gaucher disease (GD), a lysosomal storage disorder caused by mutations in the GBA gene. While GD is characterized by the presence of g...
متن کاملGlucosylsphingosine Causes Hematological and Visceral Changes in Mice—Evidence for a Pathophysiological Role in Gaucher Disease
Glucosylceramide and glucosylsphingosine are the two major storage products in Gaucher disease (GD), an inherited metabolic disorder caused by a deficiency of the lysosomal enzyme glucocerebrosidase. The build-up of glucosylceramide in the endoplasmic reticulum and prominent accumulation in cell lysosomes of tissue macrophages results in decreased blood cell and platelet counts, and skeletal ab...
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تاریخ انتشار 2011