Scientific Publications
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The Novel Arylindolylmaleimide PDA-66 Displays Pronounced Antiproliferative Effects in Acute Lymphoblastic Leukemia Cells
PDA-66 displays significant antileukemic activity in ALL cells and classifies as candidate for further evaluation as a potential drug in targeted therapy of ALL.
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 […]
Gene Mutations Versus Clinically Relevant Phenotypes: Lyso-Gb3 Defines Fabry Disease
Our data show that the biomarker lyso-Gb3 may identify the clinically relevant agalA mutations leading to Fabry disease.
Olfactory Deficits in Niemann-Pick Type C1 (NPC1) Disease
Our data demonstrate a pronounced neurodegeneration and glia activation in the olfactory system of NPC1-/-, which is accompanied by sensory deficits.
Glucosylsphingosine is a Highly Sensitive and Specific Biomarker in Gaucher Disease
Only GD patients displayed elevated levels of Glucosylsphingosine higher than 12 ng/ml whereas the comparison controls groups revealed concentrations below the pathological cut-off, verifying the […]
Idiopathic Small Fiber Neuropathy: Phenotype, Etiologies, and the Search for Fabry Disease
The following etiologies were identified in 12 patients: impaired glucose tolerance (58.3%), diabetes mellitus (16.6%), alcohol abuse (8.3%), mitochondrial disease (8.3%), and hereditary neuropathy […]
Fabry Disease – Underestimated in the Differential Diagnosis of Multiple Sclerosis?
There are several anamnestic and clinical hints indicating when Fabry disease should be considered a relevant differential diagnosis of multiple sclerosis, e.g. female patients with asymmetric, […]
Functional Characterisation of Alpha-Galactosidase
In order to predict the metabolic consequence of a given mutation, we combined in vitro enzyme activity with in vivo biomarker data. Furthermore, we used the pharmacological chaperone (PC) […]
Clinical, Genetic, and Brain Sonographic Features Related to Parkinson’s Disease in Gaucher Disease
Here we studied how clinical, genetic, and brain sonographic findings relate to the occurrence of PD in Gaucher disease. We conclude that the combined clinical, genetic, and transcranial sonographic […]