Pubblicazioni

Compound heterozygosis in AADC deficiency: A complex phenotype dissected through comparison among heterodimeric and homodimeric AADC proteins

2021 - MOLECULAR GENETICS AND METABOLISM

Longo, C.; Montioli, R.; Bisello, G.; Palazzi, L.; Mastrangelo, M.; Brennenstuhl, H.; de Laureto, P. P.; Opladen, T.; Leuzzi, V.; Bertoldi, M.

The novel R347G pathogenic mutation of aromatic amino acid decarboxylase provides additional molecular insights into enzyme catalysis and deficiency

2016 - BIOCHIMICA ET BIOPHYSICA ACTA-PROTEINS AND PROTEOMICS

Montioli, Riccardo; Paiardini, Alessandro; Kurian, Manju A.; Dindo, Mirco; Rossignoli, Giada; Heales, Simon J. R.; Pope, Simon; Voltattorni, Carla Borri; Bertoldi, Mariarita