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
Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability.
Tan NB. et al, (2021), J Med Genet
Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms.
Wright CF. et al, (2021), Am J Hum Genet
A human importin-β-related disorder: Syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO8.
Van Gucht I. et al, (2021), Am J Hum Genet
Fragment binding to the Nsp3 macrodomain of SARS-CoV-2 identified through crystallographic screening and computational docking.
Schuller M. et al, (2021), Sci Adv, 7
Pervasive cooperative mutational effects on multiple catalytic enzyme traits emerge via long-range conformational dynamics.
Acevedo-Rocha CG. et al, (2021), Nat Commun, 12