Group of Purine Metabolism Disorders

Skupina poruch metabolismu purinů / Purine Research Group

Vedoucí skupiny / Principal Investigator (PI): Marie Zikánová, Ph.D.

Pracoviště / Affiliation:
1. lékařská fakulta Univerzity Karlovy
First Faculty of Medicine, Charles University, Prague, Czech Republic

Web výzkumné skupiny / Research Group Website:
Purine Research Group – official website

Univerzitní profil / University Profile:
Marie Zikánová – Charles University

ORCID: 0000-0002-9375-800X

Research Activities

Our research group, led by Principal Investigator Marie Zikánová, Ph.D., investigates inherited disorders of purine metabolism, particularly adenylosuccinate lyase (ADSL) deficiency. Our research combines molecular genetics, metabolomics, functional studies, disease models, and the development of experimental therapies.