Determination of the Pathological Features of NPC1 Variants in a Cellular Complementation Test
Interpretation of genetic variants as pathogenic or benign strongly benefits from functional investigations. Researchers at CENTOGENE, together with colleagues from Rostock University, have developed a pertinent cellular assay for the NPC1 gene, involved in Niemann-Pick disease. The successful application of this assay was recently published in International Journal of Molecular Sciences.
Authors
- Dr. Xiao Feng
- Dr. rer. nat. Claudia Cozma , MD
- Dr. rer. nat. Supansa Pantoom
- Christina Hund
- Katharina Iwanov
- Janine Petters
- Christin Völkner
- Dr. Peter Bauer , MD
- Florian Vogel
- Claudia Bauer
- Dr. rer. nat. Frank Ulrich Weiss , MD
- Prof. Dr. Markus M. Lerch , MD
- Anne-Marie Knospe
- Andreas Hermann , MD
- Moritz J Frech , PhD
- Jiankai Luo , MD
- Prof. Arndt Rolfs , MD
- Jan Lukas , PhD