Article on NATURE GENETICS

DSTC researchers  hit NATURE GENETICS (IF: 30): Dr. Massimiliano Anselmi, Prof. Gianfranco Bocchinfuso and Prof. Lorenzo Stella contributed to identify the gene whose mutations cause Primrose syndrome, a rare genetic disease associated with mental retardation, facial abnormalities and diabetes.

The study stems from a collaboration of groups from Italy, The Netherlands, Sweden, UK, Poland, Brazil and the US. The physical chemists of our Department contributed with a computational study that elucidated the effects of the pathogenic mutations on the interaction between DNA and the protein coded by the ZBTB20 gene.

(Ref: Mutations in ZBTB20 cause Primrose syndrome. Nature Genetics 2014, 46(8), 815-817)