My interest lies with the structural side of protein: how do they function and what effects are mutations having on them?
My role within the group is to try to understand what are the structural effects of various mutations found by the HICF2 WGS sequencing programme and to interface with the Structural Genomics Consortium. This is a fascinating work as every protein has a different story to tell, each with their own secrets and challenges. In fact, only couple of cases have a straightforward delta-Gibbs change that unravels them, instead the effect range from catalytic or interface to altered sorting motifs.
Personal site: www.matteoferla.com
Biallelic MED27 variants lead to variable ponto-cerebello-lental degeneration with movement disorders.
Maroofian R. et al, (2023), Brain
The prevalence and phenotypic range associated with biallelic PKDCC variants.
Pagnamenta AT. et al, (2023), Clin Genet
Iterative computational design and crystallographic screening identifies potent inhibitors targeting the Nsp3 macrodomain of SARS-CoV-2.
Gahbauer S. et al, (2023), Proc Natl Acad Sci U S A, 120
Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities.
Cali E. et al, (2022), Genet Med
Structure-based inhibitor optimization for the Nsp3 Macrodomain of SARS-CoV-2.
Gahbauer S. et al, (2022), bioRxiv