Scientific Publications
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Unraveling Cellular Phenotypes of Novel TorsinA/TOR1A Mutations
Here, we report two new, putative TOR1A mutations (p.A14_P15del and p.E121K) that we examined functionally in comparison with wildtype (WT) protein and two known mutations (E and p.R288Q).
Mutation in FAM134B Causing Hereditary Sensory Neuropathy with Spasticity in a Turkish Family
Hereditary sensory and autonomic neuropathy (HSAN) type 2 is a rare autosomal recessive disease that was first described by Ota et al in 1973 (1). We report the clinical and pathological findings of […]
Continuous Cardiac Troponin I Release in Fabry Disease
Fabry disease (FD) is a rare lysosomal storage disorder also affecting the heart. Continuous cTNI elevation seems to occur in a substantial proportion of patients with FD.
Lessons from Everyday Stroke Care for Clinical Research and Vice Versa: Comparison of a Comprehensive and a Research Population of Young Stroke Patients
The comparison of baseline characteristics between the sifap1 study and the GQH registry revealed differences mainly determined by age.
Relative Acidic Compartment Volume as a Biomarker
In this study, we optimized the Lysotracker assay and validated it in a prospective study of more than 100 NPC patients derived from multiple independent clinical cohorts to ensure statistical power. […]
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.