Matteo Ferla
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
Github: github.com/matteoferla
Blog: blog.matteoferla.com/
Twitter: https://twitter.com/matteoferla
Recent publications
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Recurrent de novo missense variants in GNB2 can cause syndromic intellectual disability
Journal article
Tan NB. et al, (2021), Journal of Medical Genetics
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Non-coding region variants upstream of MEF2C cause severe developmental disorder through three distinct loss-of-function mechanisms.
Journal article
Wright CF. et al, (2021), American journal of human genetics
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A human importin-β-related disorder: Syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO8.
Journal article
Van Gucht I. et al, (2021), American journal of human genetics
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Fragment binding to the Nsp3 macrodomain of SARS-CoV-2 identified through crystallographic screening and computational docking.
Journal article
Schuller M. et al, (2021), Science advances, 7
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Pervasive cooperative mutational effects on multiple catalytic enzyme traits emerge via long-range conformational dynamics.
Journal article
Acevedo-Rocha CG. et al, (2021), Nat Commun, 12