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.


  • 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