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
Variable skeletal phenotypes associated with biallelic variants in PRKG2.
Pagnamenta AT. et al, (2021), J Med Genet
Expanding the phenotypic spectrum of BCS1L-related mitochondrial disease
Hikmat O. et al, (2021), ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
Biallelic variants in SLC38A3 encoding a glutamine transporter cause epileptic encephalopathy.
Marafi D. et al, (2021), Brain
Commentary: GM1-Gangliosidosis Type III Associated Parkinsonism.
Kurian MA. et al, (2021), Mov Disord Clin Pract, 8, S24 - S25
GM1-Gangliosidosis Type III Associated Parkinsonism.
Kaiyrzhanov R. et al, (2021), Mov Disord Clin Pract, 8, S21 - S23