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
The first human importin-beta-related disorder: syndromic thoracic aortic aneurysm caused by bi-allelic loss-of-function variants in IPO8
Van Gucht I. et al, (2022), EUROPEAN JOURNAL OF HUMAN GENETICS, 30, 5 - 6
Clinico-radiological features, molecular spectrum, and identification of prognostic factors in developmental and epileptic encephalopathy due to inosine triphosphate pyrophosphatase (ITPase) deficiency.
Scala M. et al, (2022), Human mutation
SARS-CoV-2 infects the human kidney and drives fibrosis in kidney organoids
Jansen J. et al, (2022), Cell Stem Cell
Variable skeletal phenotypes associated with biallelic variants in PRKG2
Pagnamenta AT. et al, (2021), Journal of Medical Genetics
Expanding the phenotypic spectrum of BCS1L-related mitochondrial disease
Hikmat O. et al, (2021), ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY