Personalized Treatment for Infantile Ascending Hereditary Spastic Paralysis Based on In Silico Strategies.

ABSTRACT: Infantile onset hereditary spastic paralysis (IAHSP) is a rare neurological disease diagnosed in less than 50 children worldwide. It is transmitted with a recessive pattern and originates from mutations of the ALS2 gene, encoding for the protein alsin and involved in differentiation and maintenance of the upper motoneuron. The exact pathogenic mechanisms of IAHSP and other neurodevelopmental diseases are still largely unknown. However, previous studies revealed that, in the cytosolic compartment, alsin is present as an active tetramer, first assembled from dimer pairs. The C-terminal VPS9 domain is a key interaction site for alsin dimerization. Here, we present an innovative drug discovery strategy, which identified a drug candidate to potentially treat a patient harboring two AL

SUBMITTER: Rossi Sebastiano M 

PROVIDER: S-EPMC9609931 | biostudies-literature | 2022 Oct

REPOSITORIES: biostudies-literature