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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Iterative computational design and crystallographic screening identifies potent inhibitors targeting the Nsp3 macrodomain of SARS-CoV-2.
Journal article
Gahbauer S. et al, (2023), Proc Natl Acad Sci U S A, 120
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Biallelic PRMT7 pathogenic variants are associated with a recognizable syndromic neurodevelopmental disorder with short stature, obesity, and craniofacial and digital abnormalities.
Journal article
Cali E. et al, (2022), Genetics in medicine : official journal of the American College of Medical Genetics
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Structure-based inhibitor optimization for the Nsp3 Macrodomain of SARS-CoV-2.
Journal article
Gahbauer S. et al, (2022), bioRxiv
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The first human importin-beta-related disorder: syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO8
Conference paper
Van Gucht I. et al, (2022), EUROPEAN JOURNAL OF HUMAN GENETICS, 30, 5 - 6
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Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency.
Journal article
Scala M. et al, (2022), Human mutation