Project: Investigating CK2 Activity Across OCNDS Mutations and Disease Models

Dr. Rebholz is an eminent neuroscientist and biochemist based in Paris, France at the Institute of Psychiatry and Neuroscience of Paris. Dr. Rebholz studies the communication between specific subtypes of brain cells, called serotonergic and dopaminergic neurons. She is a leading expert in the role of the protein CK2, partially encoded by the gene CSNK2A1.

Grant Details:

Project funded for 4 years starting in 2018 for a total of $176,000.

Aims of Grant:

Through this work, Dr. Rebholz and her team seek to deeply profile the biochemical and molecular effects of 15 mutations in the gene CSNK2A1 which have been previously found in OCNDS patients. They will accomplish this by using a variety of models, including cell-free systems, immortalized human cell lines, patient samples, and a mouse model. Thus, this work will characterize the functions of diverse mutations in CSNK2A1, revealing similarities and differences across disease models.

Published Results from this Grant to Date:

Dominguez et al., 2021. Okur-Chung neurodevelopmental syndrome-linked CK2α variants have reduced kinase activity. Human Genetics 140:1077-1096. 

Link to Research Explained