Articles tagged with Glucosylsphingosine
-
Prodromal substantia nigra sonography undermines suggested association between substrate accumulation and the risk for GBA‐related Parkinson's disease
Parkinson’s disease (PD) and Gaucher disease are amongst the primary research foci at Centogene. As both conditions may be caused by mutations in the GBA gene, a common pathomechanism is widely assumed. Based on a combination of several approaches, an international team of GBA experts involving…
-
Glucosylsphingosine Is a Reliable Response Biomarker
Perusing our research quest for selective and specific biomarkers we have designed and performed a research study involving potential biomarkers for Gaucher disease and we have identified a glucosylsphingosine as a reliable responsible biomarker for this disease.
-
Glucosylsphingosine Causes Hematological and Visceral Changes in Mice
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 pathological role of the deacylated form of glucosylceramide, glucosylsphingosine (lyso-Gb1), a…
-
Reductions in Glucosylsphingosine
Gaucher disease (GD), an autosomal recessive lipid storage disorder, arises from mutations in the GBA1 (β-glucocerebrosidase) gene, resulting in glucosylceramide accumulation in tissue macrophages. Lyso-Gb1 (glucosylsphingosine,lyso-GL1), a downstream metabolic product of glucosylceramide, has been…
-
Plasma Glucosylsphingosine: A Specific and Sensitive Biomarker for the Primary Diagnostic and Follow-Up in Patients with Gaucher Disease
Here, we determined the sensitivity and specificity of Glucosylsphingosine for the primary diagnosis and monitoring of Gaucher disease (GD), where a defect in the beta-Glucosidase (GBA) gene leads to the accumulation of glucosylceramide.